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CONGENITAL
ABNORMALITIES
      BY:
 ERUM KHOWAJA
   SANAM AKBAR

NURSE MIDWIFERY
   STUDENT
  AKUSONAM
    GARDEN
1
                        Define congenital
                        abnormalities

 Congenital    2        Describe causes of
                        congenital abnormalities
abnormalitie
                         Describe congenital
     s             3
                         abnormalities related to GI,
                         Respiratory, cardiac, CNS,
                         muscoskeletal, skin,
                         genitourinary.

                   4.     Describe their causes and
                          treatment
DEFINITION
 The word "congenital" means "at birth." "Anomaly"
  comes from the Greek word "anomalos" meaning
  "uneven" or "irregular.“
 (Something that is unusual or different at birth. )
 A congenital abnormality is any defect in form,
  structure or function. (Myles)
1. Chromosomal
                                    abnormalities




       Numerical abnormalities              Structural abnormalities


                                               1.   Deletion
                       Sex                     2.   Duplication
  Autosomes
                   chromosomes                 3.   Inversion
                                               4.   Translocation



                       Turner
Down syndrome                                          Congenital
                     syndrome
                                                     abnormalities
                                                    (if unbalanced)
2. Single gene defect
                      (Mendelian inheritance)




Autosomal dominant     Autosomal recessive          x_-linked




        Congenital                              Duchenne muscular
      spherocytosis       Cystic fibrosis
                                                    dystrophy
3. Mitochondrial DNA disorders




   4. Multifactorial diseases




              DM
              HTN
          Spina bifida



        5. Teratogens
These include..
-Gastroschisis
-Atresias
-Exomphalos
Gastroschisis




    In the womb, fetal intestines develop outside
    of the abdomen for a brief time. In normal
    cases, the intestines return to the abdominal
    cavity,and the baby's abdomen closes before
    birth.
GASTROSCHISIS


     Gastroschisis is an abdominal-wall defect that
  occurs on the side of the umbilical cord (umbilicus).
The baby is born with intestines protruding through this
        defect, and no protective sac is present.
   Gastroschisis is rarely associated with other birth
                         defects.
       Gastroschisis is a life-threatening defect,
           requiring immediate intervention.
Before Operation




        Artrificial Sac
Post Operation

    The infant is cared for post-operatively in a
neonatal intensive-care unit. He is placed in an
isolette (incubator) to keep warm and avoid infection
Oxygen is provided, often through mechanical
ventilation. Intravenous fluids, antibiotics, and
pain medications are also given. A nasogastric tube
is inserted to keep the stomach emptied of gastric
secretions. Feedings through the nasogastric tube
begin as soon as bowel function resumes.
These feedings are approached very slowly, and
often infants are reluctant to eat. They may need
feeding therapy and lots of encouragement.
   It is a defect in which the bowel or other
    viscera protrude through the umbilicus.
    (Myles)
Exomphalos is a weakness of the baby‘s abdominal
wall where the umbilical cord joins it. This weakness
allows the abdominal contents, mainly the bowel and
the liver to protrude outside the abdominal cavity
where they are contained in a loose sac that
surrounds the umbilical cord.
.   An infant with exomphalos (omphalocoele) has no
  abdominal wall muscle around the base of the
  umbilical cord.
. The normal abdominal wall is replaced by a thin
  membrane through which the bowel may be seen.
 The covering membrane may burst at delivery. After
  birth the cord should be clamped well away from the
  exomphalos.
 The abnormality should be covered with sterile gauze
  or plastic wrapping.
 Whether the exomphalos is big or small, all these
  infants must be transferred urgently to a level 2 or 3
  hospital for management.
   It may b defined as a congenital absence or
    abnormal narrowing of a body opening.
    (medical dictionary)
    It can affect different sites in the GI tract.
   oesophageal
   duodenal
   small bowel
   colonic
   anorectal.
   Oesophageal atresia is an obstruction of the oesophagus due
    to a section of the oesophagus which is missing. It is usually
    associated with a connection (fistula) between the lower
    oesophagus and the bronchi of the lungs.

   Polyhydramnios is almost always present during pregnancy as
    the fetus cannot swallow. After birth these infants also cannot
    swallow as the oesophagus ends in a blind pouch.

   The feed, which cannot be swallowed, is inhaled into the
    lungs. Gastric acid passes from the stomach into the bronchi,
    via a fistula, especially when the infants lie down. Both
    inhaled feeds and the reflux of gastric acid result in
    respiratory distress.
   Do not feed any infant that you suspect of having an
    oesophageal atresia.

   The diagnosis is confirmed by the inability to pass a
    nasogastric tube.

   Whenever polyhydramnios is diagnosed, a
    nasogastric tube must be passed at birth to exclude
    oesophageal atresia before the first feed is given.

       Polyhydramnios always
     suggests oesophageal Atresia
   Duodenal atresia is an obstruction of the
    duodenum.
   Polyhydramnios may have been present and the
    amniotic fluid may also be bile stained due to the
    fetus vomiting.
   Soon after delivery the infant starts vomiting. The
    vomit is often bile stained
   The diagnosis is easily confirmed by an
    abdominal X-ray that shows 2 bubbles of air only
    in the bowel. These infants must be kept nil per
    mouth, the stomach should be emptied via a
    nasogastric tube.
   Imperforate anus is a defect that is present
    from birth (congenital) in which the opening
    to the anus is missing or blocked.
   The rectum may end in a blind pouch that does not
    connect with the colon.

   The rectum may have openings to the urethra,
    bladder, base of the penis or scrotum in boys, or
    vagina in girls.

   There may be narrowing (stenosis) of the anus or no
    anus.

   The problem is caused by abnormal development of
    the fetus. Many forms of imperforate anus occur with
    other birth defects.
   Anal opening very near the vagina opening in
    girls.

   Baby does not pass first stool within 24 - 48
    hours after birth.

   Missing or moved opening to the anus.

   Stool passes out of the vagina, base of penis,
    scrotum, or urethra.

   Swollen belly area.
   A doctor can diagnose this condition during a physical
    exam. Imaging tests may be recommended.

 TREATMENT
   The infant should be checked for other problems,
    especially those affecting the genitals, urinary tract, and
    spine.

   Surgery to correct the defect is needed. If the rectum
    connects with other organs, these organs will also need to
    be repaired.

    A temporary colostomy (connecting the end of the large
    intestine to the abdomen wall so that stool can be
    collected in a bag) is often needed.
1.MALROTATION/             2.MECONIUM ILEUS
   VOLVULUS                 (CYSTIC FIBROSIS)




             3.HIRSCHSPRUNG‘S
                  DISEASE
   A volvulus is a bowel obstruction with a loop of bowel that
    has abnormally twisted on itself.
           SINGS AND SYMPTOMS
….Bowel obstruction, manifested as abdominal distension and
 vomiting.

….Ischemia (loss of blood flow) to the affected portion of
 intestine.

….severe pain and progressive injury to the intestinal wall, with
 accumulation of gas and fluid in the portion of the bowel
 obstructed.
                    TREATMENT
                             Sigmoidoscopy

                                 Laparotomy
   In meconium ileus the meconium is
    particularly viscous and causes intestinal
    obstruction.
   Symptoms include emesis that may be
    bilious, abdominal distention, and failure to
    pass meconium.
   Diagnosis is based on clinical presentation
    and x-rays.
   Treatment is enemas with dilute contrast
    under fluoroscopy and surgery if enemas fail.
   Hirschsprung's disease is a blockage of the
    large intestine due to improper muscle
    movement in the bowel. It is a congenital
    condition.
   CAUSES:
   Muscle contractions in the gut help digested materials move
    through the intestine. This is called peristalsis. Nerves in
    between the muscle layers trigger the contractions.

   In Hirschsprung's disease, the nerves are missing from a part
    of the bowel. Areas without such nerves cannot push material
    through. This causes a blockage. Intestinal contents build up
    behind the blockage, causing the bowel and abdomen to
    become swollen.

   Hirschsprung's disease is sometimes associated with other
    inherited or congenital conditions, such as Down syndrome.
Symptoms that may be present in newborns and infants
                             include:
 Difficulty with bowel movements
 Failure to pass meconium shortly after birth
 Failure to pass a first stool within 24 - 48 hours after
  birth
 Infrequent but explosive stools
 Jaundice
 Poor feeding
 Poor weight gain
 Vomiting
 Watery diarrhea (in the newborn)
 Symptoms in older children:
 Constipation that gradually gets worse
 Fecal impaction
 Malnutrition
 Slow growth
 Swollen belly
   During a physical examination, the doctor may be able to
    feel loops of bowel in the swollen belly. A rectal
    examination may reveal a loss of muscle tone in the rectal
    muscles.

   Tests used to help diagnose Hirschsprung's
    disease may include:
   Abdominal x-ray
   Anal manometry (a balloon is inflated in the rectum to
    measure pressure in the area)
   Barium enema
   Rectal biopsy
   Colostomy is usually performed in the sigmoid
    colon at a site identified intraoperatively (by
    frozen section pathology) as containing ganglion
    cells.

   A variety of subsequent corrective operations are
    carried out at approximately 1 year of age,
    although the recent trend is to perform this as a
    one stage procedure in the neonatal period.

   All procedures have in common the aim of
    bringing innervated bowel to, or close to the anal
    margin with minimal disruption of neural
    anatomy.
CLEFT LIP
The congenital deformity of a cleft in
the upper lip, on one or both sides of
the midline.


CLEFT PALATE
A fissure in the midline of the
palate due to failure of the two
sides to fuse in embryonic
development. It may be
accompanied by a cleft lip and
disturbance of tooth formation .
Unilateral     Unilateral complete   Bilateral complete
incomplete




 Incomplete        Unilateral
 cleft palate   complete lip and Bilateral
                    palate       complete
   Diagnosed until the soft tissues of the fetal face
    can be clearly visualized sonographically (13 to
    14 weeks).

   The majority of infants with cleft lip also have
    palatal involvement:
MANAGEMENT




Cleft lip repair. The edges of the cleft between the lip and nose are cut (A and B). The
  bottom of the nostril is formed with suture (C). The upper part of the lip tissue is
  closed (D), and the stitches are extended down to close the opening entirely (E).
   Diaphragmatic Hernia

   Choanal Atresia

   Laryngeal Stridor
A diaphragmatic hernia is
a birth defect in which
there is an abnormal
opening in the
diaphragm, the muscle
that helps you breathe.
The opening allows part
of the organs from the
belly
(stomach, spleen, liver, a
nd intestines) to go up
into the chest cavity near
the lungs.
   Diaphragmatic hernia is caused by the
    improper joining of structures during fetal
    development. As a result, the abdominal
    organs such as the stomach, small intestine,
    spleen, part of the liver, and the kidney
    appear in the chest cavity. The lung tissue on
    the affected side is thus not allowed to
    completely develop.
   Most affect the left side.
   Severe breathing difficulty
   Bluish colored skin due to lack of oxygen
   Rapid breathing (tachypnea)
   Fast heart rate (tachycardia)
                   DIAGNOSIS
   The pregnant mother may have excessive amounts
    of amniotic fluid. Fetal ultrasound may show
    abdominal contents in the chest cavity.
             Examination of the infant shows:
   Irregular chest movements
   Absent breath sounds on affected side
   Bowel sounds heard in the chest
   Abdomen feels less full on examination by touch
    (palpation)
   A chest x-ray may show abdominal organs in chest
    cavity.
1
The chest cavity includes
the heart and lungs. The
abdominal cavity
includes the liver, the
stomach, and the small
and large intestines. The
two regions are
separated by the
diaphragm, the large
dome-shaped muscle.
2
When the diaphragm develops with a hole in
it, the abdominal organs can pass into the
chest cavity. The lung tissue on the affected
side is compressed, fails to grow normally,
and is unable to expand after birth. As the
child begins to breathe, cry, and swallow, air
enters the intestines that are protruding into
the chest. The increasing size of the intestines
puts pressure on the other side of the chest,
lung, and heart and can quickly cause a life-
threatening situation.
The indications for a diaphragmatic hernia
repair include:
1.chest X-rays showing diaphragmatic hernia
2.severe breathing difficulty (respiratory
3.distress) shortly after birth
4.prenatal ultrasound often identifies a
diaphragmatic hernia
3                                   4




An incision is made in the upper
abdomen, under the ribs. The         The hole in the diaphragm is repaired
abdominal organs are gently pulled   and the incision is stitched closed. A
down through the opening in the      tube is placed in the chest to allow air,
diaphragm and positioned into the    blood, and fluid to drain so the lung
abdominal cavity.                    can re-expand
5




    The lung tissue may be underdeveloped on
    the affected side, and the outcome depends
    upon the development of the lung tissue.
    Infants who survive may have some long-
    term lung disease.
   Choanal atresia describes a unilateral or bilateral narrowing of the
    nasal passage(s) with a web of tissue or bone occluding the
    nasopharynx. (Myles)


                                SYMPTOMS
   Newborns generally prefer to breathe through their nose.
    Typically, infants only mouth breathe when they cry. Babies
    with choanal atresia have difficulty breathing unless they are
    crying
   Chest retracts
    crying Difficulty
   Cyanosis (bluish discoloration)
   Inability to nurse and breathe at same time
   Inability to pass a catheter through each side of the nose into
    the throat
   Persistent one-sided nasal blockage or discharge
   The immediate concern is to resuscitate the baby
    if necessary. An airway may need to be placed so
    that the infant can breathe. In some cases,
    intubation or tracheostomy may be needed.
   An infant can learn to mouth breathe, which can
    delay the need for immediate surgery.
   Surgery to remove the obstruction cures the
    problem. Surgery may be delayed if the infant
    can tolerate mouth breathing. The surgery may
    be done through the nose (transnasal) or through
    the mouth (transpalatal).
   Laryngomalacia (also called congenital laryngeal
    stridor) results from a congenital (present at birth)
    anomaly of the larynx (voice box). A weakness in
    the structures in the larynx, can cause stridor.
   Stridor is a high-pitched sound that is heard best
    when the child breaths in (inspiration).
                        CAUSE
   Laryngomalacia is a defect that is present at
    birth. During fetal development, the structures
    in the larynx may not fully develop. As a result,
    there is a weakness in these structures at birth,
    causing them to collapse during breathing
   In most cases, laryngomalacia is a harmless condition that
    resolves on its own, without medical intervention. The
    condition usually improves by the time the infant is 18
    months old, but Each child's case is unique.

           The most helpful way to determine if your child's
           laryngomalacia is causing significant problems is:


   your baby requires frequent breaks while feeding
   your baby is having difficulty gaining weight
   Your child should be seen by an ENT if these are present.
   your child has significant retractions (chest sucking in)
   breathing problems
   A congenital heart defect is a problem with the
    structure of the heart. It is present at birth.
    Congenital heart defects are the most common type
    of major birth defect.

   A baby's heart begins to develop shortly after
    conception. During development, structural defects
    can occur. These defects can involve the walls of the
    heart, the valves of the heart and the arteries and
    veins near the heart. Congenital heart defects can
    disrupt the normal flow of blood through the heart.
                       The blood flow can
   Slow down
   Go in the wrong direction or to the wrong place
   Be blocked completely
   Chromosomal and genetic factors
   Teratogens
   PRENATAL DETECTION:
 Detailed ultrasound
            POSTNATAL RECOGNITION:
 Clinically babies with cardiac anomalies can
  be divided into two groups
1.Central Cyanosis
2.Acyanotic Cardiac Defects
 Defects included in this group are:
1.   Transportion of the great arteries
2.   Pulmonary atresia
3.   Tetra logy of fallot
4.   Tricuspid atresia
5.   Total anomalous pulmonary venous drainage
6.   Univentricular/complex heart
   "transposed" literally means "swapped―
    (exchanged or substitute)
   A congenital abnormality of the heart in which
    the aorta arises from the right ventricle and the
    pulmonary artery from the left ventricle.
                                                (Myles)


   In TGA the oxygenated blood is circulated back
    into the systemic circuit.
   Life is impossible unless there is an additional
    abnormality, such as septal defect, that permits
    the mixing of blood.
Factors in the mother that may increase the
             risk of this condition include:
   Age over 40
   Alcoholism
   Diabetes
   Poor nutrition during pregnancy (prenatal
    nutrition)
   Rubella or other viral illness during pregnancy
   Blueness of the skin
   Clubbing of the fingers or toes
   Poor feeding
   Shortness of breath
   The health care provider may detect a heart
    murmur while listening to the chest with a
    stethoscope. The baby's mouth and skin will be a
    blue color.
   Tests often include the following:
   Cardiac catheterization
   Chest x-ray
   ECG
   Echocardiogram (if done before birth, it is called
    a fetal echocardiogram)
   Pulse oximetry (to check blood oxygen level)
   The baby will immediately receive a medicine called
    prostaglandin through an IV (intravenous line). This
    medicine helps keep a blood vessel called the ductus
    arteriosus open, allowing some mixing of the two
    blood circulations.
   A procedure using a long, thin flexible tube (balloon
    atrial septostomy) may be needed to create a large
    hole in the atrial septum to allow blood to mix.
   A surgery called an arterial switch procedure is used
    to permanently correct the problem within the baby's
    first week of life. This surgery switches the great
    arteries back to the normal position and keeps the
    coronary arteries attached to the aorta.
   Women who plan to become pregnant should
    be immunized against rubella if they are not
    already immune. Eating well, avoiding
    alcohol, and controlling diabetes both before
    and during pregnancy may be helpful.
   Pulmonary atresia is a form of heart disease that
    occurs from birth in which the pulmonary valve
    does not form properly. (The pulmonary valve is
    an opening on the right side of the heart that
    regulates blood flow from the right ventricle
    (right side pumping chamber) to the lungs.)
                   SYMPTOMS
   Symptoms usually occur in the first few hours of
    life, although it may take up to a few days.
   Bluish colored skin (cyanosis)
   Fast breathing
   Fatigue
   Poor eating habits (babies may get tired while
    nursing or sweat during feedings)
   Shortness of breath
   prostaglandin E1 is usually used to help the
    blood move (circulate) into the lungs. This
    medicine keeps a blood vessel open between
    the pulmonary artery and aorta.
   Palliative blalock shunt
   It usually occurs with a ventricular septal
    defect or an atrial septal defect, or both,
    allowing mixing of the circulation.
   Potentially more distressing for parents are
    the defects that do not initially present with
    marked cyanosis. These babies may for a
    long time be considered to be healthy.
Tetralogy of Fallot (TOF) is a
congenital heart defect
which is classically
understood to involve four
anatomical abnormalities
(although only three of
them are always present).
In this condition there is a
pulmonary outflow tract
obstruction, a ventricular
septal defect, right
ventricular hypertrophy and
an overriding aorta.
1. Persistant                  2.Ventricular
    ductus                       or atrial
 arteriosus                       septal
   (arterial                      defects
     duct)

                     3.
                Coarctation
                of the aorta

                                    5.
  4.Aotric                     Hypoplastic
  stenosis                      left heart
                                syndrome
   Patent ductus arteriosus (PDA) is a congenital
    disorder in the heart wherein a neonate's
    ductus arteriosus fails to close after birth.
    Early symptoms are uncommon, but in the
    first year of life include increased work of
    breathing and poor weight gain. With age, the
    PDA may lead to congestive heart failure if
    left uncorrected.
   A ventricular septal defect (VSD) is a defect in the
    ventricular septum, the wall dividing the left and
    right ventricles of the heart.
   Ventricular septal defect is usually symptomless
    at birth. It usually manifests a few weeks after
    birth.
   Most cases do not need treatment and heal at the
    first years of life. Treatment is either conservative
    or surgical. Smaller congenital VSDs often close
    on their own, as the heart grows, and in such
    cases may be treated conservatively.
   Coarctation of the aorta, or aortic coarctation, is a
    congenital condition whereby the aorta narrows in the area
    where the ductus arteriosus inserts.
   In mild cases, children may show no signs or symptoms at
    first and their condition may not be diagnosed until later
    in life.
   Some children born with coarctation of the aorta have
    other heart defects, too, such as aortic stenosis,
    ventricular septal defect, patent ductus arteriosus or mitral
    valve abnormalities.
   Coarctation is about twice as common in boys as it is in
    girls. It‘s common in girls who have Turner syndrome.
   Therapy/Treatment is conservative if asymptomatic, but
    may require surgical resection of the narrow segment if
    there is arterial hypertension.
   Aortic valve stenosis (AS) is a disease of the
    heart valves in which the opening of the
    aortic valve is narrowed.
   Treatment is generally not necessary in
    people without symptoms. In some cases,
    echocardiography is performed every 1–2
    years to monitor the progression.
Hypo plastic left heart
syndrome (also known
as HLHS), is a rare
congenital heart
defect in which the
left ventricle of the
heart is severely
underdeveloped.           Infant with cyanosis
                          due to hypo plastic
                          left heart syndrome
Ingestion of folic acid supplements prior to
conception and during the early stages of
pregnancy has helped prevent such abnormalities.
If patient do not take folic acid in early stages
they end up with ―. Termination Of Pregnancy.‖
The abnormalities include:
• Anencephaly

• Spina bifida

• Hydrocephalus

• Microcephaly
 Anencephaly:-
The absence of the forebrain and vault of the skull. It is the
  condition that is incompatible with sustained life but
  occassionally such a baby is born alive.


   Management:-
The Midwife should wrap the baby carefully before showing the
   baby to the mother.
It is recognized that seeing and holding the baby will facilitate
   the grieving process.
Spina      bifida


   Spina Bifida is failure of
    the vertebral column.
    There is no skin covering
    the defect, which allows
    protrusion of the
    meninges.
   Long Term Effects


The long term effects are;
 loss of sensation, paralysis,
 mental retardation,
 permanent loss of bowel
 and bladder control,
 seizures and weakness.
 Curing              and Care:-
    Often times surgery is performed within twenty-four to
    forty-eight hours of birth to close any openings in the child‘s
    lower back and reconstruct the spine and other tissues in the
    area.
   Problems with feet and legs may also be deal with surgically.
    There is fluid in the child‘s brain it can be drained.
   Bladder and bowel function can be regulated, by
    catheterization.
   Mental health and physical therapy experts can also help with
    learning disabilities, physical therapy, and emotional
    adjustments.
   Hydrocephalus
This condition arises from a blockage in the circulation and
  absorption of cerebrospinal fluid, which is produced from the
  choroid plexuses within the lateral ventricles of the brain. The
  large lateral ventricles increase in size and eventually,
  compress the surrounding brain tissues.

   Sign And Symptoms
  Large tense anterior fontanelle
 Splayed skull suture

 Inappropriate increase in occipito frontol

 circumference
 Sun setting appearance to the eye

 Irritability or abnormal movements.
 Microcephaly
Abnormal smallness of the head in
  relation to the size of the rest of the
  body. A congenital condition in which
  the brain is not fully developed.

                     OR
The occipitofrontal circumference is
  more than two standard deviations
  below normal for gestational age, the
  disproportionally small head.
   Causes
 Intrauterine infection
e.g.
Rubella.
 Alcohol syndrome.
 Some trisomic disorders,
That is chromosomal defect
e.g.
Down syndrome.
 Sign      and symptoms
Depending on the severity of the accompanying syndrome,
  children with microcephaly may have:
 mental retardation

 delayed motor functions and speech

 facial distortions

 Dwarfism or short stature

 Hyperactivity

 Seizures

 difficulties with coordination and balance

 other brain or neurological abnormalities.
   Polydactyly
More than the normal number of fingers or toes. From the
 Greek "polys" (many) + "dactylos" (finger) = many fingers or,
 medically, too many fingers. Polydactyly is the opposite of
 oligodactyly (too few fingers or toes).
                      (medicinenet.com)
   Syndactyly
A condition in which fingers or toes are partially joined
  together. Syndactyly can involve the bones or just the
  skin. With partial syndactyly, the connection extends
  from the base only partway up the involved digits.
                          (medicinenet.com)
   MANAGEMENT

   Polydactyly
   Can be corrected surgically to improve appearance and functioning
   Usually done at 1 year of age so skeletal development is complete and accurate
    anatomic assessment can be done
   May require reconstruction of any associated abnormalities in remaining digit
   Cast and soft dressing may be used until healed

   Syndactyly
   Treatment aimed at maintaining and improving function with cosmetic
    benefits
   Involves surgery and may require skin graft from groin area.
   Surgery usually done after one year and may be delayed as late as 18-24
    months.
   Whether or not any surgical division needs to be carried out depends on the
    degree of fusion.
 Limb       reduction anomaly
 Limb reduction anomalies is a condition in which a baby is
  born with a limb deficit.
                                OR
A birth defect where all or part of a limb is absent.

 Sign       and symptoms
   Underdeveloped limb bones
   Partial absence of limb
   Complete absence of limb
   Short limbs
   Short digits
   Absent digits
   Partially absent digits
   Malformed limbs
   Bowed limbs.
   Causes:-
 Talipes

―Deformity is an ankle in a state of insufficient
  dorsiflexion to perform normal gait.‖ (journals.lww.com)

                               OR

―Talipes equinovarus is the descriptive term for a deformity
  of the foot where the ankle is bent downwards (planter
  flexed) and the front part of the turned inwards (inverted).‖
―Talipes calcaneovalgus describes the opposite
  position where the foot id dorsiflexed and
  everted.‖

   Causes

   The causes of talipes is the abnormal position
    of the feet and limited space in the womb
    during fetal development, which can result in
    malformed tendons, muscles and bones.
   the lack of amniotic fluid in the sac surrounding
    the fetus, or oligohydramnios, can increase
    pressure on the feet, leading to talipes as well.
   Treatment

Treatment for talipes should commence
  immediately after birth. The goal is to restore
  the feet to their normal position to enable
  proper function as well as eliminate pain and
  deformity. The treatments available are:
 Serial plaster casting and splinting
 Surgery.
   Developmental hip dysplasia:-
Hip dysplasia is the medical name used to describe a problem
  with formation of the hip joint in children. The location of the
  problem can be either the ball of the hip joint (femoral head),
  the socket of the hip joint (the acetabulum), or both.
   Causes
   Breech presentation
   Primigravida
   Oligohydramnios
   It is more in girls than boys.
   Symptoms

    Some babies born with a dislocated hip will show no outward
    signs:

    Legs of different lengths

    Uneven skin folds on the thigh

    Less mobility or flexibility on one side

    Limping, toe walking, or a waddling, duck-like gait .
   Treatment
   Non surgical treatment

    Treatment methods depend on the child's age.

    Newborns

    Newborns are placed in a Pavlik harness for 1 to 2 months to
    treat DDH.

    Newborns are placed in a Pavlik harness for 1 to 2 months to
    treat DDH. The baby is placed in a soft positioning device, a
    Pavlik harness, for 1 to 2 months to keep the thighbone in the
    socket. This will help tighten the ligaments around the hip joint
    and promote normal hip socket formation.

    1 to 6 months

    The baby's thighbone is repositioned in the socket using a
    harness or similar device. The method is usually successful. But
    if it is not, the doctor may have to anesthetize the baby and
    move the thighbone into proper position, and then put the baby
    into a body cast (spica).

    Surgical treatment
Can be done under anesthesia. Open surgery is sometimes
    necessary. Afterwards, the child is placed into a body cast
    (spica) to maintain the hip position.
   Achondroplasia
―An inherited skeletal disorder beginning before
  birth; cartilage is converted to bone resulting in
  dwarfism.‖
   Symptoms
   a form of dwarfism
   short arms, short legs, and an enlarged head.
   Obesity is one of the most common symptoms of
    achondroplasia.
   Causes
   The causes of dwarfism are quite variable, although
    most are genetic.
   Dwarfism is not necessarily inherited, often arising
    from spontaneous mutations.
   Metabolic disorders can also lead to dwarfism. If
    people cannot absorb nutrients, this leads to
    dwarfism as a result of malnutrition.
 Management

   Achondroplasia treatment does not include the use of human
    growth hormone to increase height. This kind of hormone
    therapy is considered viable only in cases of proportionate
    dwarfism, in which the limbs and head are appropriately
    proportioned to the size of the torso. The use of growth
    hormone has not been shown to significantly increase adult
    height when used in children with achondroplasia.

   Individuals with achondroplasia might require therapeutic
    support for issues related to social adjustment.

   Some individuals elect to undergo this surgery to achieve
    greater height for cosmetic and social purposes, but this
    procedure is not considered medically necessary.
   Osteogenesis Imperfecta
Osteogenesis imperfecta, also called Brittle Bone
  Disease, is a genetic protein deficiency that results
  in fragile bones. The protein affected is usually
  Type-I collagen. The disorder is typically a
  dominant genetic trait that is passed through the
  parents, but it may also be a de novo mutation,
  with no family history. There are also two rare and
  recently discovered forms of osteogenesis
  imperfecta that are recessive genetic traits.
 Type II OI is the most severe form, in which
  collagen is of insufficient quality and quantity.
  Deformities and respiratory problems are severe,
  and most cases die within the first year of life.
 In types III, IV, V, and VI OI, collagen is produced in
  normal quantities, but its quality is poor. Sufferers
  of Types III, IV, V, and VI OI are characteristically
  short in stature, with a curved spine and a barrel-
  shaped rib cage. Type III is distinguished by being
  progressive; deformities and other symptoms may
  be slight at birth but develop over time.
 Management                    and
            treatment
Osteogenesis imperfecta is an incurable
 condition. Treatments to manage the
 disease include surgery, physical
 therapy, and physical aids. Bone
 infections are managed with antibiotics
 and antiseptics when they occur.
 Medication, either oral or intravenous, is
 also used to treat osteogenesis
 imperfecta.
   Vascular naevi:
These defects in the development of
  the skin can be divided into two
  main types:

   Capillary malformations:
These are due to defects in the dermal
  capillaries. The most commonly
  observed are ‗stork marks‘. These
  are usually found on the neck of the
  skin. They are generally small and
  will fade. No treatment is necessary.
   Port wine stain:
A port wine stain is usually a large flat patch of purple or dark
  red skin with well-defined borders. At birth the surface of the
  port-wine stain is flat, but in time it becomes bumpy and
  often more unsightly. The face is most commonly affected
  although they can occur anywhere on the body.




Laser treatment and the use skilful cosmetics will help to
  prevent this problem.
   Capillary haemangiomata (strawberry
    marks):-
A capillary hemangioma, also called a strawberry
  mark, is a red birthmark that is either present at the
  time of birth or develops within the first few weeks of
  life. Most of these marks begin to fade by the time
  the child is between 12 and 15 months old, and
  some of the marks disappear completely. These
  birthmarks are more common in girls and babies who
  are born prematurely. Most capillary hemangioma do
  not cause problems, though they can create vision
  problems if present on or near the eye or breathing
  problems if they are near the nostrils or mouth.
   Treatment:-
No treatment is normally required unless the haem-
angioma is situated in an awkward area where it is
likely to be subject to the abresion,such as on the lip
or around the eye where it may interfere with vision.
Treatment with steroids or pulsed laser therapy is
possible.
   Pigmented (melanocytic) naevi:-
These are brown, sometimes hairy , marks on the skin that vary
  in size and may be flat or raised. A percentage of this type of
  birth mark may become malignant.
   Treatment:-
Surgical excision may be recommended to pre empts this. This
  birth mark will be carried out in the immediate neonatal
  period except in the case of large pigment naevi. Laser
  removal is a more common procedure but is not always
  successful.
Genitourinary is a word that refers to the urinary and genital
  organs. Most neonatal genitourinary problems are due to
  congenital anomalies, it is may be finding a single umbilical
  artery in the umbilical cord. The first clues to urinary
  dysfunction are the quantity and quality of the urinary
  stream, and this should be scrutinized in every newborn.
  Common signs of dysfunction include anuria, hematuria, and
  masses. Anuria may be caused by obstruction, a vascular
  disorder, or renal agenesis or dysplasia. In the male,
  obstruction is commonly caused by posterior urethral valves.
   Posterior uretheral valves:-
This is an abnormality affecting boys the presence of valves in
  the posterior urethra prevents the normal outflow of urine. As
  a result the bladder distention causing back pressure on the
  ureters and to the kidneys.
   Sign and symptoms:-
   Inability to void is a common presentation.
   an enlarged bladder that may be detectable through the
    abdomen as a large mass
   painful urination
   weak urine stream
   bedwetting or wetting pants after the child has been toilet-
    trained
   poor weight gain



   Causes:-
   PUV are the most common cause of severe types of
    urinary tract obstruction in children. It is thought to
    develop in the early stages of fetal development. The
    abnormality affects only male infants. This disorder is
    usually sporadic (occurs by chance). However, some
    cases have been seen in twins and siblings,
    suggesting a genetic component.
   Treatment:-
   Initially, treatment may focus on relieving your child's symptoms.
   If child has a urinary tract infection, is dehydrated, and/or has electrolyte
    irregularities, these conditions will be treated first.
   child may have a catheter placed in his bladder (a small hollow tube that is
    inserted into the penis through the urethra and is threaded up into the
    bladder).
   child may also receive antibiotic therapy and intravenous (IV) fluids.
   An urologist may perform a procedure called an endoscopic ablation. During
    this procedure, the urologist will insert an endoscope, a small, flexible tube
    with a light and a camera lens at the end. With this tube he/she will examine
    the obstruction and remove the valve leaflets through a small incision.
   In certain situations, a different procedure called a vesicostomy may be
    required. A vesicostomy is a small opening made in the bladder through the
    abdomen. Usually this opening is repaired at a later time when the valves
    can be cut more safely.
   Potter‘s syndrome:-

―Potter's Syndrome is one of several serious or fatal kidney abnormalities. In
    Potter's (or Potter) syndrome the baby's kidneys do not develop in the first
    few weeks of life in the womb. The baby's kidneys are essential for the
    production of amniotic fluid in the womb. If there are no kidneys, there is
    little or no amniotic fluid (this is known as oligohydramnios) to expand the
    womb around the baby and to allow the baby to grow and move. The womb
    remains small and in its confined space the baby's lungs cannot develop
    properly. Many babies with Potter's syndrome are stillborn. In those who
    are born alive, the immediate cause of death is failure to breathe (respiratory
    failure) due to underdeveloped (hypoplastic) lungs, usually one or two days
    after delivery. Even if this problem is treated the baby cannot survive
    without kidneys. (Potter's syndrome is also known as Renal Agenesis, which
    simply means that the kidneys did not developed.‖
   Treatment:
   Nutrition: Adequate nutrition is required. Nasogastric feeding may be
    indicated in infants.
   Electrolyte abnormalities such as hypocalcemia and
    hyperphosphatemia can be treated with medications, including
    calcium carbonate and vitamin D.
   Anemia is treated with oral or parenteral iron and erythropoietin
    stimulating agents.
   Growth: The use of growth hormone is indicated in children with a
    low birth weight who do not grow at a healthy rate.
   POLYCYSTIC KIDNEYS:-
   Polycystic kidney disease (PKD) is a genetic disorder characterized by the
    growth of numerous cysts in the kidneys.
   Sign and symptoms:-

    Blood in the urine

    Urinary tract infection

    Kidney stones

    Drowsiness

    Nail abnormalities
   Increased abdominal guts
   Kidneys will be palpable.
   Causes:-
   PKD is caused by an inherited gene.
   Children have a 50% chance of developing PKD if one parent carries the
    gene.
   If a person has the PKD gene, he or she will have some form of the
    disease in his or her lifetime
   There is also a rare form of PKD, called autosomal recessive polycystic
    kidney disease, that affects newborns, infants, and children. This form of
    PKD can cause death in the first month of life.

    Treatment:-
Most treatments for PKD treat the disease symptoms or prevent
  complications. Some of these treatment options may include:

  Pain medications must be used cautiously, since some of them can
  cause further damage to the kidneys.

  Antibiotics—In the event of a urinary tract infection, aggressive
  treatment with antibiotics is required to avoid further damage to the
  kidneys.

  Surgery—Cysts may be drained through surgery to relieve pain,
  blockage, infection, or bleeding. Cyst drainage may also temporarily
  lower blood pressure. Sometimes, one or both kidneys may be
  removed, called a nephrectomy , if pain is severe.

  Diet—A low-protein diet may reduce stress on the kidney. Avoiding
  salt can help maintain normal blood pressure and drinking lots of
  water can help reduce the risk of kidney stones .
 Dialysis and transplantation—More than half of PKD patients develop
  kidney failure and require dialysis . Dialysis is used to remove wastes
  from the blood, since the kidneys cannot. At this stage, dialysis will
  be a lifelong requirement unless a kidney transplant from a donor
  can be arranged and performed successfully.
   Hypospadias:-
   Hypospadias is a birth defect of the penis that commonly has four
    characteristics: The urethral opening is located on the underside of
    the penis, instead of the tip, and may exit the penis anywhere along
    its shaft as high as the scrotum.
   The urethral opening is unusually narrow.
   The entire foreskin may be bunched on the topside of the penis.
   The penis itself may be curved to one side.
   Causes:-
The causes of hypospadias are unknown. There seems to be a genetic
  association, since a baby boy with a family history of hypospadias is
  slightly more likely to be born with the condition.
   Treatment:-
   Hypospadias is treated with surgery, usually when the child is
    between six and 18 months old.
   The aims of surgery include repositioning the urethral opening at the
    tip of the penis, removing the abnormal foreskin (which gives a
    circumcised appearance), and correcting the bend in the penis (if it is
    present) to allow sexual function.
    It is important not to have your son circumcised before the
    hypospadias repair, in case the foreskin is needed.
   Cryptorchidism:-
―The condition in which the testes failed to descend into the scrotum
  and are retained within the abdomen or inguinal canal.‖
   Causes:-
About five per cent of all boys are born with this condition. Premature
  and low birth weight babies are at increased risk.

   Sign and symptoms:-
   The symptoms of undescended testicles include:The scrotum is
    empty on the affected side.
   Sometimes, the scrotum is empty on both sides.
   The condition is painless.
   Urination is not affected.
   Treatment:-
   Operation of orchidopexy is necessary to bring testes into the
    scrotum before puberty.
   INTERSEX:-
―Intersex‖ is a general term used for a variety of conditions in which a
   person is born with a reproductive or sexual anatomy that doesn‘t
   seem to fit the typical definitions of female or male. For example, a
   person might be born appearing to be female on the outside, but
   having mostly male-typical anatomy on the inside.
   Causes:-
   There are many causes of intersex conditions in infants. They can be
    roughly divided into prenatal (before birth) and postnatal
    (immediately following birth).
    the most frequent and disturbing of postnatal causes are
    circumcision accidents that result in the permanent loss of an infant
    boy‘s penis.
   Prenatal causes of intersex conditions include many genetic and
    chromosomal conditions.
Treatment:-
 Ideally, a team of health care
  professionals with expertise in intersex
  should work together to understand and
  treat the child with intersex -- and to
  understand, counsel, and support the
  entire family.



   Parents should understand controversies
    and changes in treating intersex in
    recent years.
   Surgery was often recommended.
    It was considered easier to reconstruct
    female genitalia than functioning male
    genitalia, so if the "correct" choice was
    not clear, the child was often assigned to
    be a girl.
   AMBIGIUOUS GENITALIA:-
Ambiguous genitalia is a birth defect where the outer
  genitals do not have the typical appearance of either
  a boy or a girl.
   Sign and Symptoms:-
   Usually, ambiguous genitalia in genetic females
    (babies with two X chromosomes) has the following
    features:
   An enlarged clitoris that looks like a small penis
   The urethral opening (where urine comes out) can
    be along, above, or below the surface of the clitoris.
   he labia may look like a scrotum
   The infant may be thought to be a male with
    undescended testicles
   Sometimes a lump of tissue is felt in the labia,
    further making it look like a scrotum with testicles.
   In a genetic male (one X and one Y chromosome),
    ambiguous genitalia usually include the following
    features:
   A small penis (less than 2-3 centimeters or 0.8-1.2
    inches) that looks like an enlarged clitoris (the
    clitoris of a newborn female is normally somewhat
    enlarged at birth).
   The urethral opening may be along, above, or below
    the penis; it can be as low as on the peritoneum,
    further making the infant appear to be female.
   There may be a small scrotum that is separated and
    looks like labia.
   Undescended testicles commonly occur with
    ambiguous genitalia.
   Causes:-
   Pseudohermaphroditism. The genitalia are of one sex, but some physical
    characteristics of the other sex are present.
   Mixed gonadal dysgenesis (MGD). An intersex condition in which there
    are some male structures (gonad, testis), as well as a uterus, vagina, and
    fallopian tubes
   Congenital adrenal hyperplasia. This condition has several forms, but the
    most common form causes the genetic female to appear male. Many
    states test for this potentially life-threatening condition during newborn
    screening exams.
   Lack of testosterone cellular receptors. Even if the body makes the
    hormones needed to develop into a physical male, the body cannot
    respond to those hormones. This produces a female body-type, even if
    the genetic sex is male.
   Lack of production of certain hormones can cause the embryo to develop
    with a female body type, regardless of genetic sex
   If the mother takes certain medications (such as androgenic steroids),
    they may make a genetic female look more male
   Chromosomal abnormalities
   Treatment:-
   Medications
    Hormone medications may help correct the hormonal imbalance. In
    some children, hormones may be administered shortly after birth
    and may be the only treatment necessary.
   Surgery
    In children with ambiguous genitalia, surgery may be used to:
   Preserve normal sexual function
   Create more natural-looking genitals
   For girls with ambiguous genitalia, the sex organs often work
    normally despite the ambiguous outward appearance. If a girl's
    vagina is hidden under her skin, surgery in childhood can help with
    sexual function later. For boys, surgery to reconstruct an incomplete
    penis may improve appearance and make erections possible.
   CONGENITAL ADRENAL HYPERPLASIA:-
―Congenital adrenal hyperplasia refers to a group of inherited disorders
  of the adrenal gland. It is an autosomic recessive condition.‖
   Causes:-
   People have 2 adrenal glands, one located on top of each of their
    kidneys. These glands make hormones, cortisol and aldosterone,
    that are essential for life. People with congenital adrenal hyperplasia
    lack an enzyme the adrenal gland needs to make the hormones.
   At the same time, the body produces more androgen, a type of male
    sex hormone. This causes male characteristics to appear early (or
    inappropriately).
   Sign and symptoms:-
   Symptoms will vary, depending on the type of congenital adrenal
    hyperplasia someone has and their age when the disorder is
    diagnosed.
   Girls with a more severe form often have abnormal genitals at birth
    and may be diagnosed before symptoms appear.
   Boys will appear normal at birth even if they have a more severe
    form.
   In children with the more severe form of the disorder,
    symptoms often develop within 2 or 3 weeks after birth.
   Poor feeding or vomiting
   Dehydration
   Electrolyte changes (abnormal levels of sodium
    and potassium in the blood)
   Abnormal heart rhythm
   Girls with the milder form will usually have normal
    female reproductive organs (ovaries, uterus, and
    fallopian tubes). They may also have the following
    changes:
   Abnormal menstrual periods or failure to menstruate
   Early appearance of pubic or armpit hair
   Excessive hair growth or facial hair
   Failure to menstruate
   Some enlargement of the clitoris
   Boys with the milder form often appear normal at birth.
    However, they may appear to enter puberty early.
    Symptoms may include:
   Deepening voice
   Early appearance of pubic or armpit hair
   Enlarged penis but normal testes
   Well-developed muscles
   Both boys and girls will be tall as children but much
    shorter than normal as adults.
   Treatment:-
   The goal of treatment is to return hormone levels to normal, or near normal.
    This is done by taking a form of cortisol, most often hydrocortisone, three
    times per day. People may need additional doses of medicine during times of
    stress, such as severe illness or surgery.
   The health care provider will determine the genetic sex of the baby with
    abnormal genitalia by checking the chromosomes. Girls with male-looking
    genitals may have surgery during infancy to correct the abnormal
    appearance.
   Steroids used to treat congenital adrenal hyperplasia do not usually cause
    side effects, such as obesity or week bones.
   It is important for parents to report signs of infection and stress to child's
    health care provider because the child may need more medication.
   Steroids cannot be stopped suddenly because doing so may lead to adrenal
    insufficiency.
   TERATOGENIC CAUSES:-
―Teratogens are substances or other factors that can cause congenital
  abnormalities, which are also called birth defects. Usually these
  abnormalities arise in the third to eighth weeks of pregnancy, when the
  major organ systems are forming. Examples of teratogens include
  certain chemicals, medications, and infections or other diseases in the
  mother.‖
 Chemicals and medications
 It is difficult to determine whether a particular chemical or medication
  causes congenital abnormalities. This is because many women take
  medications during pregnancy, and most studies have to rely on the
  mother‘s memory of what she took while she was pregnant.
 Some anti-epileptic drugs are associated with a wide array of birth
  defects, such as cardiovascular abnormalities, cleft palate, and
  microcephaly, which is a condition where the brain is too small. These
  drugs include phenytoin, valproic acid, and trimethadione. Women with
  epilepsy need special monitoring and care during pregnancy, which may
  include a change in medication.
 Warfarin, a blood-thinning drug, is a teratogen. Warfarin can cause
  central nervous system defects, including mental retardation, as well as
  problems with the optic nerves.
 Drugs called angiotensin-converting enzyme (ACE) inhibitors, which are
  used to treat high blood pressure, can cause a number of problems
  during pregnancy. ACE inhibitors can cause fetal growth restriction,
  problems with the baby‘s kidneys, and sometimes death of the baby
  during pregnancy.
   Isotretinoin, which is used to treat severe acne, is also linked with a
    number of congenital abnormalities. These include cleft palate, heart
    defects, abnormalities of the outer ears, and underdevelopment of
    the lower jaw. Isotretinoin is also linked with neural tube defects.
   Some types of tranquilizers, such as phenothiazine and lithium, are
    thought to be teratogens. Similarly, drugs used to treat anxiety, such
    as diazepam, are linked with congenital abnormalities such as cleft
    lip or palate.
   Hormones called androgens and progestins have been shown to
    make female fetuses more masculine. The baby‘s clitoris may be
    larger than normal, and the outer lips surrounding her genitals may
    be fused.
   Another hormone called diethylstilbestrol (DES), which is a form of
    estrogen, can cause abnormalities of the uterus, vagina, and cervix in
    girls.
Alcohol, smoking, and other drugs
Alcohol use is a well-known cause of congenital abnormalities during
pregnancy.

Abnormalities caused by alcohol in pregnancy include deformities of the face,
arms, and legs, heart conditions, mental retardation, and fetal growth
restriction.

Cigarette smoking is linked with fetal growth restriction and premature birth.
Smoking may also cause problems with the development of the brain,
cardiovascular system, and respiratory system.

Exposure to marijuana during pregnancy may result in low birth weight,
intracranial bleeding, jitteriness, low blood sugar, low levels of calcium in the
blood, or an infection of the blood called sepsis.

The use of opioid drugs, such as heroin or methadone, during pregnancy can
lead to fetal growth restriction, premature birth, and low birth weight.
Cocaine use is known to cause numerous problems during pregnancy. These
include miscarriage, fetal growth restriction, and problems with the
development of the urinary system or genital tract
Infections in the mother

   ―CHEAP TORCHES‖ is an acronym for a special group of infections
    that can affect the developing baby during pregnancy. CHEAP
    TORCHES stands for the following:
   C: Chickenpox and shingles
    H: Hepatitis B, C, D, E
    E: Enteroviruses, a group of viruses including poliovirus
    A: AIDS
    P: Parvovirus B19, also known as fifth disease
   T: Toxoplasmosis
    O: Other infections such as group B streptococcus, listeria, candida
    R: Rubella
    C: Cytomegalovirus
    H: Herpes simplex virus
    E: Everything else sexually transmitted such as gonorrhea and
    chlamydia
    S: Syphilis
   Myles (text book of midwifes)
   Medical dictionary
   Adam.com
   Medlineplus medical encyclopedia
   Medicine.net
   Kidshealth.com

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Congenital abnormalities by Erum Khowaja

  • 1. CONGENITAL ABNORMALITIES BY: ERUM KHOWAJA SANAM AKBAR NURSE MIDWIFERY STUDENT AKUSONAM GARDEN
  • 2. 1 Define congenital abnormalities Congenital 2 Describe causes of congenital abnormalities abnormalitie Describe congenital s 3 abnormalities related to GI, Respiratory, cardiac, CNS, muscoskeletal, skin, genitourinary. 4. Describe their causes and treatment
  • 3. DEFINITION  The word "congenital" means "at birth." "Anomaly" comes from the Greek word "anomalos" meaning "uneven" or "irregular.“  (Something that is unusual or different at birth. )  A congenital abnormality is any defect in form, structure or function. (Myles)
  • 4. 1. Chromosomal abnormalities Numerical abnormalities Structural abnormalities 1. Deletion Sex 2. Duplication Autosomes chromosomes 3. Inversion 4. Translocation Turner Down syndrome Congenital syndrome abnormalities (if unbalanced)
  • 5. 2. Single gene defect (Mendelian inheritance) Autosomal dominant Autosomal recessive x_-linked Congenital Duchenne muscular spherocytosis Cystic fibrosis dystrophy
  • 6. 3. Mitochondrial DNA disorders 4. Multifactorial diseases DM HTN Spina bifida 5. Teratogens
  • 8. Gastroschisis  In the womb, fetal intestines develop outside of the abdomen for a brief time. In normal cases, the intestines return to the abdominal cavity,and the baby's abdomen closes before birth.
  • 9. GASTROSCHISIS Gastroschisis is an abdominal-wall defect that occurs on the side of the umbilical cord (umbilicus). The baby is born with intestines protruding through this defect, and no protective sac is present. Gastroschisis is rarely associated with other birth defects. Gastroschisis is a life-threatening defect, requiring immediate intervention.
  • 10.
  • 11. Before Operation Artrificial Sac
  • 12.
  • 13. Post Operation The infant is cared for post-operatively in a neonatal intensive-care unit. He is placed in an isolette (incubator) to keep warm and avoid infection Oxygen is provided, often through mechanical ventilation. Intravenous fluids, antibiotics, and pain medications are also given. A nasogastric tube is inserted to keep the stomach emptied of gastric secretions. Feedings through the nasogastric tube begin as soon as bowel function resumes.
  • 14. These feedings are approached very slowly, and often infants are reluctant to eat. They may need feeding therapy and lots of encouragement.
  • 15. It is a defect in which the bowel or other viscera protrude through the umbilicus. (Myles)
  • 16. Exomphalos is a weakness of the baby‘s abdominal wall where the umbilical cord joins it. This weakness allows the abdominal contents, mainly the bowel and the liver to protrude outside the abdominal cavity where they are contained in a loose sac that surrounds the umbilical cord.
  • 17. . An infant with exomphalos (omphalocoele) has no abdominal wall muscle around the base of the umbilical cord. . The normal abdominal wall is replaced by a thin membrane through which the bowel may be seen.  The covering membrane may burst at delivery. After birth the cord should be clamped well away from the exomphalos.  The abnormality should be covered with sterile gauze or plastic wrapping.  Whether the exomphalos is big or small, all these infants must be transferred urgently to a level 2 or 3 hospital for management.
  • 18. It may b defined as a congenital absence or abnormal narrowing of a body opening. (medical dictionary) It can affect different sites in the GI tract.  oesophageal  duodenal  small bowel  colonic  anorectal.
  • 19. Oesophageal atresia is an obstruction of the oesophagus due to a section of the oesophagus which is missing. It is usually associated with a connection (fistula) between the lower oesophagus and the bronchi of the lungs.  Polyhydramnios is almost always present during pregnancy as the fetus cannot swallow. After birth these infants also cannot swallow as the oesophagus ends in a blind pouch.  The feed, which cannot be swallowed, is inhaled into the lungs. Gastric acid passes from the stomach into the bronchi, via a fistula, especially when the infants lie down. Both inhaled feeds and the reflux of gastric acid result in respiratory distress.
  • 20. Do not feed any infant that you suspect of having an oesophageal atresia.  The diagnosis is confirmed by the inability to pass a nasogastric tube.  Whenever polyhydramnios is diagnosed, a nasogastric tube must be passed at birth to exclude oesophageal atresia before the first feed is given. Polyhydramnios always suggests oesophageal Atresia
  • 21. Duodenal atresia is an obstruction of the duodenum.  Polyhydramnios may have been present and the amniotic fluid may also be bile stained due to the fetus vomiting.  Soon after delivery the infant starts vomiting. The vomit is often bile stained  The diagnosis is easily confirmed by an abdominal X-ray that shows 2 bubbles of air only in the bowel. These infants must be kept nil per mouth, the stomach should be emptied via a nasogastric tube.
  • 22. Imperforate anus is a defect that is present from birth (congenital) in which the opening to the anus is missing or blocked.
  • 23. The rectum may end in a blind pouch that does not connect with the colon.  The rectum may have openings to the urethra, bladder, base of the penis or scrotum in boys, or vagina in girls.  There may be narrowing (stenosis) of the anus or no anus.  The problem is caused by abnormal development of the fetus. Many forms of imperforate anus occur with other birth defects.
  • 24. Anal opening very near the vagina opening in girls.  Baby does not pass first stool within 24 - 48 hours after birth.  Missing or moved opening to the anus.  Stool passes out of the vagina, base of penis, scrotum, or urethra.  Swollen belly area.
  • 25. A doctor can diagnose this condition during a physical exam. Imaging tests may be recommended.  TREATMENT  The infant should be checked for other problems, especially those affecting the genitals, urinary tract, and spine.  Surgery to correct the defect is needed. If the rectum connects with other organs, these organs will also need to be repaired.  A temporary colostomy (connecting the end of the large intestine to the abdomen wall so that stool can be collected in a bag) is often needed.
  • 26. 1.MALROTATION/ 2.MECONIUM ILEUS VOLVULUS (CYSTIC FIBROSIS) 3.HIRSCHSPRUNG‘S DISEASE
  • 27. A volvulus is a bowel obstruction with a loop of bowel that has abnormally twisted on itself. SINGS AND SYMPTOMS ….Bowel obstruction, manifested as abdominal distension and vomiting. ….Ischemia (loss of blood flow) to the affected portion of intestine. ….severe pain and progressive injury to the intestinal wall, with accumulation of gas and fluid in the portion of the bowel obstructed. TREATMENT  Sigmoidoscopy  Laparotomy
  • 28. In meconium ileus the meconium is particularly viscous and causes intestinal obstruction.  Symptoms include emesis that may be bilious, abdominal distention, and failure to pass meconium.  Diagnosis is based on clinical presentation and x-rays.  Treatment is enemas with dilute contrast under fluoroscopy and surgery if enemas fail.
  • 29. Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition.  CAUSES:  Muscle contractions in the gut help digested materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions.  In Hirschsprung's disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen.  Hirschsprung's disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.
  • 30. Symptoms that may be present in newborns and infants include:  Difficulty with bowel movements  Failure to pass meconium shortly after birth  Failure to pass a first stool within 24 - 48 hours after birth  Infrequent but explosive stools  Jaundice  Poor feeding  Poor weight gain  Vomiting  Watery diarrhea (in the newborn)  Symptoms in older children:  Constipation that gradually gets worse  Fecal impaction  Malnutrition  Slow growth  Swollen belly
  • 31. During a physical examination, the doctor may be able to feel loops of bowel in the swollen belly. A rectal examination may reveal a loss of muscle tone in the rectal muscles.  Tests used to help diagnose Hirschsprung's disease may include:  Abdominal x-ray  Anal manometry (a balloon is inflated in the rectum to measure pressure in the area)  Barium enema  Rectal biopsy
  • 32. Colostomy is usually performed in the sigmoid colon at a site identified intraoperatively (by frozen section pathology) as containing ganglion cells.  A variety of subsequent corrective operations are carried out at approximately 1 year of age, although the recent trend is to perform this as a one stage procedure in the neonatal period.  All procedures have in common the aim of bringing innervated bowel to, or close to the anal margin with minimal disruption of neural anatomy.
  • 33. CLEFT LIP The congenital deformity of a cleft in the upper lip, on one or both sides of the midline. CLEFT PALATE A fissure in the midline of the palate due to failure of the two sides to fuse in embryonic development. It may be accompanied by a cleft lip and disturbance of tooth formation .
  • 34. Unilateral Unilateral complete Bilateral complete incomplete Incomplete Unilateral cleft palate complete lip and Bilateral palate complete
  • 35. Diagnosed until the soft tissues of the fetal face can be clearly visualized sonographically (13 to 14 weeks).  The majority of infants with cleft lip also have palatal involvement:
  • 36. MANAGEMENT Cleft lip repair. The edges of the cleft between the lip and nose are cut (A and B). The bottom of the nostril is formed with suture (C). The upper part of the lip tissue is closed (D), and the stitches are extended down to close the opening entirely (E).
  • 37. Diaphragmatic Hernia  Choanal Atresia  Laryngeal Stridor
  • 38. A diaphragmatic hernia is a birth defect in which there is an abnormal opening in the diaphragm, the muscle that helps you breathe. The opening allows part of the organs from the belly (stomach, spleen, liver, a nd intestines) to go up into the chest cavity near the lungs.
  • 39. Diaphragmatic hernia is caused by the improper joining of structures during fetal development. As a result, the abdominal organs such as the stomach, small intestine, spleen, part of the liver, and the kidney appear in the chest cavity. The lung tissue on the affected side is thus not allowed to completely develop.  Most affect the left side.
  • 40. Severe breathing difficulty  Bluish colored skin due to lack of oxygen  Rapid breathing (tachypnea)  Fast heart rate (tachycardia) DIAGNOSIS  The pregnant mother may have excessive amounts of amniotic fluid. Fetal ultrasound may show abdominal contents in the chest cavity. Examination of the infant shows:  Irregular chest movements  Absent breath sounds on affected side  Bowel sounds heard in the chest  Abdomen feels less full on examination by touch (palpation)  A chest x-ray may show abdominal organs in chest cavity.
  • 41. 1 The chest cavity includes the heart and lungs. The abdominal cavity includes the liver, the stomach, and the small and large intestines. The two regions are separated by the diaphragm, the large dome-shaped muscle.
  • 42. 2 When the diaphragm develops with a hole in it, the abdominal organs can pass into the chest cavity. The lung tissue on the affected side is compressed, fails to grow normally, and is unable to expand after birth. As the child begins to breathe, cry, and swallow, air enters the intestines that are protruding into the chest. The increasing size of the intestines puts pressure on the other side of the chest, lung, and heart and can quickly cause a life- threatening situation. The indications for a diaphragmatic hernia repair include: 1.chest X-rays showing diaphragmatic hernia 2.severe breathing difficulty (respiratory 3.distress) shortly after birth 4.prenatal ultrasound often identifies a diaphragmatic hernia
  • 43. 3 4 An incision is made in the upper abdomen, under the ribs. The The hole in the diaphragm is repaired abdominal organs are gently pulled and the incision is stitched closed. A down through the opening in the tube is placed in the chest to allow air, diaphragm and positioned into the blood, and fluid to drain so the lung abdominal cavity. can re-expand
  • 44. 5 The lung tissue may be underdeveloped on the affected side, and the outcome depends upon the development of the lung tissue. Infants who survive may have some long- term lung disease.
  • 45. Choanal atresia describes a unilateral or bilateral narrowing of the nasal passage(s) with a web of tissue or bone occluding the nasopharynx. (Myles)  SYMPTOMS  Newborns generally prefer to breathe through their nose. Typically, infants only mouth breathe when they cry. Babies with choanal atresia have difficulty breathing unless they are crying  Chest retracts  crying Difficulty  Cyanosis (bluish discoloration)  Inability to nurse and breathe at same time  Inability to pass a catheter through each side of the nose into the throat  Persistent one-sided nasal blockage or discharge
  • 46. The immediate concern is to resuscitate the baby if necessary. An airway may need to be placed so that the infant can breathe. In some cases, intubation or tracheostomy may be needed.  An infant can learn to mouth breathe, which can delay the need for immediate surgery.  Surgery to remove the obstruction cures the problem. Surgery may be delayed if the infant can tolerate mouth breathing. The surgery may be done through the nose (transnasal) or through the mouth (transpalatal).
  • 47. Laryngomalacia (also called congenital laryngeal stridor) results from a congenital (present at birth) anomaly of the larynx (voice box). A weakness in the structures in the larynx, can cause stridor.  Stridor is a high-pitched sound that is heard best when the child breaths in (inspiration).  CAUSE  Laryngomalacia is a defect that is present at birth. During fetal development, the structures in the larynx may not fully develop. As a result, there is a weakness in these structures at birth, causing them to collapse during breathing
  • 48. In most cases, laryngomalacia is a harmless condition that resolves on its own, without medical intervention. The condition usually improves by the time the infant is 18 months old, but Each child's case is unique.  The most helpful way to determine if your child's laryngomalacia is causing significant problems is:  your baby requires frequent breaks while feeding  your baby is having difficulty gaining weight  Your child should be seen by an ENT if these are present.  your child has significant retractions (chest sucking in)  breathing problems
  • 49. A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of major birth defect.  A baby's heart begins to develop shortly after conception. During development, structural defects can occur. These defects can involve the walls of the heart, the valves of the heart and the arteries and veins near the heart. Congenital heart defects can disrupt the normal flow of blood through the heart. The blood flow can  Slow down  Go in the wrong direction or to the wrong place  Be blocked completely
  • 50. Chromosomal and genetic factors  Teratogens
  • 51. PRENATAL DETECTION:  Detailed ultrasound  POSTNATAL RECOGNITION:  Clinically babies with cardiac anomalies can be divided into two groups 1.Central Cyanosis 2.Acyanotic Cardiac Defects
  • 52.  Defects included in this group are: 1. Transportion of the great arteries 2. Pulmonary atresia 3. Tetra logy of fallot 4. Tricuspid atresia 5. Total anomalous pulmonary venous drainage 6. Univentricular/complex heart
  • 53. "transposed" literally means "swapped― (exchanged or substitute)  A congenital abnormality of the heart in which the aorta arises from the right ventricle and the pulmonary artery from the left ventricle.  (Myles)  In TGA the oxygenated blood is circulated back into the systemic circuit.  Life is impossible unless there is an additional abnormality, such as septal defect, that permits the mixing of blood.
  • 54. Factors in the mother that may increase the risk of this condition include:  Age over 40  Alcoholism  Diabetes  Poor nutrition during pregnancy (prenatal nutrition)  Rubella or other viral illness during pregnancy
  • 55. Blueness of the skin  Clubbing of the fingers or toes  Poor feeding  Shortness of breath
  • 56. The health care provider may detect a heart murmur while listening to the chest with a stethoscope. The baby's mouth and skin will be a blue color.  Tests often include the following:  Cardiac catheterization  Chest x-ray  ECG  Echocardiogram (if done before birth, it is called a fetal echocardiogram)  Pulse oximetry (to check blood oxygen level)
  • 57. The baby will immediately receive a medicine called prostaglandin through an IV (intravenous line). This medicine helps keep a blood vessel called the ductus arteriosus open, allowing some mixing of the two blood circulations.  A procedure using a long, thin flexible tube (balloon atrial septostomy) may be needed to create a large hole in the atrial septum to allow blood to mix.  A surgery called an arterial switch procedure is used to permanently correct the problem within the baby's first week of life. This surgery switches the great arteries back to the normal position and keeps the coronary arteries attached to the aorta.
  • 58. Women who plan to become pregnant should be immunized against rubella if they are not already immune. Eating well, avoiding alcohol, and controlling diabetes both before and during pregnancy may be helpful.
  • 59. Pulmonary atresia is a form of heart disease that occurs from birth in which the pulmonary valve does not form properly. (The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs.)  SYMPTOMS  Symptoms usually occur in the first few hours of life, although it may take up to a few days.  Bluish colored skin (cyanosis)  Fast breathing  Fatigue  Poor eating habits (babies may get tired while nursing or sweat during feedings)  Shortness of breath
  • 60. prostaglandin E1 is usually used to help the blood move (circulate) into the lungs. This medicine keeps a blood vessel open between the pulmonary artery and aorta.  Palliative blalock shunt
  • 61. It usually occurs with a ventricular septal defect or an atrial septal defect, or both, allowing mixing of the circulation.  Potentially more distressing for parents are the defects that do not initially present with marked cyanosis. These babies may for a long time be considered to be healthy.
  • 62. Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four anatomical abnormalities (although only three of them are always present). In this condition there is a pulmonary outflow tract obstruction, a ventricular septal defect, right ventricular hypertrophy and an overriding aorta.
  • 63. 1. Persistant 2.Ventricular ductus or atrial arteriosus septal (arterial defects duct) 3. Coarctation of the aorta 5. 4.Aotric Hypoplastic stenosis left heart syndrome
  • 64. Patent ductus arteriosus (PDA) is a congenital disorder in the heart wherein a neonate's ductus arteriosus fails to close after birth. Early symptoms are uncommon, but in the first year of life include increased work of breathing and poor weight gain. With age, the PDA may lead to congestive heart failure if left uncorrected.
  • 65. A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.  Ventricular septal defect is usually symptomless at birth. It usually manifests a few weeks after birth.  Most cases do not need treatment and heal at the first years of life. Treatment is either conservative or surgical. Smaller congenital VSDs often close on their own, as the heart grows, and in such cases may be treated conservatively.
  • 66. Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts.  In mild cases, children may show no signs or symptoms at first and their condition may not be diagnosed until later in life.  Some children born with coarctation of the aorta have other heart defects, too, such as aortic stenosis, ventricular septal defect, patent ductus arteriosus or mitral valve abnormalities.  Coarctation is about twice as common in boys as it is in girls. It‘s common in girls who have Turner syndrome.  Therapy/Treatment is conservative if asymptomatic, but may require surgical resection of the narrow segment if there is arterial hypertension.
  • 67. Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is narrowed.  Treatment is generally not necessary in people without symptoms. In some cases, echocardiography is performed every 1–2 years to monitor the progression.
  • 68. Hypo plastic left heart syndrome (also known as HLHS), is a rare congenital heart defect in which the left ventricle of the heart is severely underdeveloped. Infant with cyanosis due to hypo plastic left heart syndrome
  • 69. Ingestion of folic acid supplements prior to conception and during the early stages of pregnancy has helped prevent such abnormalities. If patient do not take folic acid in early stages they end up with ―. Termination Of Pregnancy.‖ The abnormalities include: • Anencephaly • Spina bifida • Hydrocephalus • Microcephaly
  • 70.  Anencephaly:- The absence of the forebrain and vault of the skull. It is the condition that is incompatible with sustained life but occassionally such a baby is born alive.  Management:- The Midwife should wrap the baby carefully before showing the baby to the mother. It is recognized that seeing and holding the baby will facilitate the grieving process.
  • 71. Spina bifida  Spina Bifida is failure of the vertebral column. There is no skin covering the defect, which allows protrusion of the meninges.
  • 72. Long Term Effects The long term effects are; loss of sensation, paralysis, mental retardation, permanent loss of bowel and bladder control, seizures and weakness.
  • 73.  Curing and Care:-  Often times surgery is performed within twenty-four to forty-eight hours of birth to close any openings in the child‘s lower back and reconstruct the spine and other tissues in the area.  Problems with feet and legs may also be deal with surgically.  There is fluid in the child‘s brain it can be drained.  Bladder and bowel function can be regulated, by catheterization.  Mental health and physical therapy experts can also help with learning disabilities, physical therapy, and emotional adjustments.
  • 74. Hydrocephalus This condition arises from a blockage in the circulation and absorption of cerebrospinal fluid, which is produced from the choroid plexuses within the lateral ventricles of the brain. The large lateral ventricles increase in size and eventually, compress the surrounding brain tissues.  Sign And Symptoms  Large tense anterior fontanelle  Splayed skull suture  Inappropriate increase in occipito frontol circumference  Sun setting appearance to the eye  Irritability or abnormal movements.
  • 75.  Microcephaly Abnormal smallness of the head in relation to the size of the rest of the body. A congenital condition in which the brain is not fully developed. OR The occipitofrontal circumference is more than two standard deviations below normal for gestational age, the disproportionally small head.  Causes  Intrauterine infection e.g. Rubella.  Alcohol syndrome.  Some trisomic disorders, That is chromosomal defect e.g. Down syndrome.
  • 76.  Sign and symptoms Depending on the severity of the accompanying syndrome, children with microcephaly may have:  mental retardation  delayed motor functions and speech  facial distortions  Dwarfism or short stature  Hyperactivity  Seizures  difficulties with coordination and balance  other brain or neurological abnormalities.
  • 77. Polydactyly More than the normal number of fingers or toes. From the Greek "polys" (many) + "dactylos" (finger) = many fingers or, medically, too many fingers. Polydactyly is the opposite of oligodactyly (too few fingers or toes). (medicinenet.com)  Syndactyly A condition in which fingers or toes are partially joined together. Syndactyly can involve the bones or just the skin. With partial syndactyly, the connection extends from the base only partway up the involved digits. (medicinenet.com)
  • 78. MANAGEMENT  Polydactyly  Can be corrected surgically to improve appearance and functioning  Usually done at 1 year of age so skeletal development is complete and accurate anatomic assessment can be done  May require reconstruction of any associated abnormalities in remaining digit  Cast and soft dressing may be used until healed  Syndactyly  Treatment aimed at maintaining and improving function with cosmetic benefits  Involves surgery and may require skin graft from groin area.  Surgery usually done after one year and may be delayed as late as 18-24 months.  Whether or not any surgical division needs to be carried out depends on the degree of fusion.
  • 79.  Limb reduction anomaly  Limb reduction anomalies is a condition in which a baby is born with a limb deficit. OR A birth defect where all or part of a limb is absent.  Sign and symptoms  Underdeveloped limb bones  Partial absence of limb  Complete absence of limb  Short limbs  Short digits  Absent digits  Partially absent digits  Malformed limbs  Bowed limbs.
  • 80. Causes:-
  • 81.  Talipes ―Deformity is an ankle in a state of insufficient dorsiflexion to perform normal gait.‖ (journals.lww.com) OR ―Talipes equinovarus is the descriptive term for a deformity of the foot where the ankle is bent downwards (planter flexed) and the front part of the turned inwards (inverted).‖
  • 82. ―Talipes calcaneovalgus describes the opposite position where the foot id dorsiflexed and everted.‖  Causes  The causes of talipes is the abnormal position of the feet and limited space in the womb during fetal development, which can result in malformed tendons, muscles and bones.  the lack of amniotic fluid in the sac surrounding the fetus, or oligohydramnios, can increase pressure on the feet, leading to talipes as well.  Treatment Treatment for talipes should commence immediately after birth. The goal is to restore the feet to their normal position to enable proper function as well as eliminate pain and deformity. The treatments available are:  Serial plaster casting and splinting  Surgery.
  • 83. Developmental hip dysplasia:- Hip dysplasia is the medical name used to describe a problem with formation of the hip joint in children. The location of the problem can be either the ball of the hip joint (femoral head), the socket of the hip joint (the acetabulum), or both.  Causes  Breech presentation  Primigravida  Oligohydramnios  It is more in girls than boys.  Symptoms  Some babies born with a dislocated hip will show no outward signs:  Legs of different lengths  Uneven skin folds on the thigh  Less mobility or flexibility on one side  Limping, toe walking, or a waddling, duck-like gait .
  • 84. Treatment  Non surgical treatment  Treatment methods depend on the child's age.  Newborns  Newborns are placed in a Pavlik harness for 1 to 2 months to treat DDH.  Newborns are placed in a Pavlik harness for 1 to 2 months to treat DDH. The baby is placed in a soft positioning device, a Pavlik harness, for 1 to 2 months to keep the thighbone in the socket. This will help tighten the ligaments around the hip joint and promote normal hip socket formation.  1 to 6 months  The baby's thighbone is repositioned in the socket using a harness or similar device. The method is usually successful. But if it is not, the doctor may have to anesthetize the baby and move the thighbone into proper position, and then put the baby into a body cast (spica).  Surgical treatment Can be done under anesthesia. Open surgery is sometimes necessary. Afterwards, the child is placed into a body cast (spica) to maintain the hip position.
  • 85. Achondroplasia ―An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.‖  Symptoms  a form of dwarfism  short arms, short legs, and an enlarged head.  Obesity is one of the most common symptoms of achondroplasia.  Causes  The causes of dwarfism are quite variable, although most are genetic.  Dwarfism is not necessarily inherited, often arising from spontaneous mutations.  Metabolic disorders can also lead to dwarfism. If people cannot absorb nutrients, this leads to dwarfism as a result of malnutrition.
  • 86.  Management  Achondroplasia treatment does not include the use of human growth hormone to increase height. This kind of hormone therapy is considered viable only in cases of proportionate dwarfism, in which the limbs and head are appropriately proportioned to the size of the torso. The use of growth hormone has not been shown to significantly increase adult height when used in children with achondroplasia.  Individuals with achondroplasia might require therapeutic support for issues related to social adjustment.  Some individuals elect to undergo this surgery to achieve greater height for cosmetic and social purposes, but this procedure is not considered medically necessary.
  • 87. Osteogenesis Imperfecta Osteogenesis imperfecta, also called Brittle Bone Disease, is a genetic protein deficiency that results in fragile bones. The protein affected is usually Type-I collagen. The disorder is typically a dominant genetic trait that is passed through the parents, but it may also be a de novo mutation, with no family history. There are also two rare and recently discovered forms of osteogenesis imperfecta that are recessive genetic traits.  Type II OI is the most severe form, in which collagen is of insufficient quality and quantity. Deformities and respiratory problems are severe, and most cases die within the first year of life.  In types III, IV, V, and VI OI, collagen is produced in normal quantities, but its quality is poor. Sufferers of Types III, IV, V, and VI OI are characteristically short in stature, with a curved spine and a barrel- shaped rib cage. Type III is distinguished by being progressive; deformities and other symptoms may be slight at birth but develop over time.
  • 88.  Management and treatment Osteogenesis imperfecta is an incurable condition. Treatments to manage the disease include surgery, physical therapy, and physical aids. Bone infections are managed with antibiotics and antiseptics when they occur. Medication, either oral or intravenous, is also used to treat osteogenesis imperfecta.
  • 89. Vascular naevi: These defects in the development of the skin can be divided into two main types:  Capillary malformations: These are due to defects in the dermal capillaries. The most commonly observed are ‗stork marks‘. These are usually found on the neck of the skin. They are generally small and will fade. No treatment is necessary.
  • 90. Port wine stain: A port wine stain is usually a large flat patch of purple or dark red skin with well-defined borders. At birth the surface of the port-wine stain is flat, but in time it becomes bumpy and often more unsightly. The face is most commonly affected although they can occur anywhere on the body. Laser treatment and the use skilful cosmetics will help to prevent this problem.
  • 91. Capillary haemangiomata (strawberry marks):- A capillary hemangioma, also called a strawberry mark, is a red birthmark that is either present at the time of birth or develops within the first few weeks of life. Most of these marks begin to fade by the time the child is between 12 and 15 months old, and some of the marks disappear completely. These birthmarks are more common in girls and babies who are born prematurely. Most capillary hemangioma do not cause problems, though they can create vision problems if present on or near the eye or breathing problems if they are near the nostrils or mouth.  Treatment:- No treatment is normally required unless the haem- angioma is situated in an awkward area where it is likely to be subject to the abresion,such as on the lip or around the eye where it may interfere with vision. Treatment with steroids or pulsed laser therapy is possible.
  • 92. Pigmented (melanocytic) naevi:- These are brown, sometimes hairy , marks on the skin that vary in size and may be flat or raised. A percentage of this type of birth mark may become malignant.  Treatment:- Surgical excision may be recommended to pre empts this. This birth mark will be carried out in the immediate neonatal period except in the case of large pigment naevi. Laser removal is a more common procedure but is not always successful.
  • 93. Genitourinary is a word that refers to the urinary and genital organs. Most neonatal genitourinary problems are due to congenital anomalies, it is may be finding a single umbilical artery in the umbilical cord. The first clues to urinary dysfunction are the quantity and quality of the urinary stream, and this should be scrutinized in every newborn. Common signs of dysfunction include anuria, hematuria, and masses. Anuria may be caused by obstruction, a vascular disorder, or renal agenesis or dysplasia. In the male, obstruction is commonly caused by posterior urethral valves.  Posterior uretheral valves:- This is an abnormality affecting boys the presence of valves in the posterior urethra prevents the normal outflow of urine. As a result the bladder distention causing back pressure on the ureters and to the kidneys.
  • 94. Sign and symptoms:-  Inability to void is a common presentation.  an enlarged bladder that may be detectable through the abdomen as a large mass  painful urination  weak urine stream  bedwetting or wetting pants after the child has been toilet- trained  poor weight gain  Causes:-  PUV are the most common cause of severe types of urinary tract obstruction in children. It is thought to develop in the early stages of fetal development. The abnormality affects only male infants. This disorder is usually sporadic (occurs by chance). However, some cases have been seen in twins and siblings, suggesting a genetic component.
  • 95. Treatment:-  Initially, treatment may focus on relieving your child's symptoms.  If child has a urinary tract infection, is dehydrated, and/or has electrolyte irregularities, these conditions will be treated first.  child may have a catheter placed in his bladder (a small hollow tube that is inserted into the penis through the urethra and is threaded up into the bladder).  child may also receive antibiotic therapy and intravenous (IV) fluids.  An urologist may perform a procedure called an endoscopic ablation. During this procedure, the urologist will insert an endoscope, a small, flexible tube with a light and a camera lens at the end. With this tube he/she will examine the obstruction and remove the valve leaflets through a small incision.  In certain situations, a different procedure called a vesicostomy may be required. A vesicostomy is a small opening made in the bladder through the abdomen. Usually this opening is repaired at a later time when the valves can be cut more safely.
  • 96. Potter‘s syndrome:- ―Potter's Syndrome is one of several serious or fatal kidney abnormalities. In Potter's (or Potter) syndrome the baby's kidneys do not develop in the first few weeks of life in the womb. The baby's kidneys are essential for the production of amniotic fluid in the womb. If there are no kidneys, there is little or no amniotic fluid (this is known as oligohydramnios) to expand the womb around the baby and to allow the baby to grow and move. The womb remains small and in its confined space the baby's lungs cannot develop properly. Many babies with Potter's syndrome are stillborn. In those who are born alive, the immediate cause of death is failure to breathe (respiratory failure) due to underdeveloped (hypoplastic) lungs, usually one or two days after delivery. Even if this problem is treated the baby cannot survive without kidneys. (Potter's syndrome is also known as Renal Agenesis, which simply means that the kidneys did not developed.‖
  • 97. Treatment:  Nutrition: Adequate nutrition is required. Nasogastric feeding may be indicated in infants.  Electrolyte abnormalities such as hypocalcemia and hyperphosphatemia can be treated with medications, including calcium carbonate and vitamin D.  Anemia is treated with oral or parenteral iron and erythropoietin stimulating agents.  Growth: The use of growth hormone is indicated in children with a low birth weight who do not grow at a healthy rate.
  • 98. POLYCYSTIC KIDNEYS:-  Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys.  Sign and symptoms:-  Blood in the urine  Urinary tract infection  Kidney stones  Drowsiness  Nail abnormalities  Increased abdominal guts  Kidneys will be palpable.  Causes:-  PKD is caused by an inherited gene.  Children have a 50% chance of developing PKD if one parent carries the gene.  If a person has the PKD gene, he or she will have some form of the disease in his or her lifetime  There is also a rare form of PKD, called autosomal recessive polycystic kidney disease, that affects newborns, infants, and children. This form of PKD can cause death in the first month of life.
  • 99. Treatment:- Most treatments for PKD treat the disease symptoms or prevent complications. Some of these treatment options may include:  Pain medications must be used cautiously, since some of them can cause further damage to the kidneys.  Antibiotics—In the event of a urinary tract infection, aggressive treatment with antibiotics is required to avoid further damage to the kidneys.  Surgery—Cysts may be drained through surgery to relieve pain, blockage, infection, or bleeding. Cyst drainage may also temporarily lower blood pressure. Sometimes, one or both kidneys may be removed, called a nephrectomy , if pain is severe.  Diet—A low-protein diet may reduce stress on the kidney. Avoiding salt can help maintain normal blood pressure and drinking lots of water can help reduce the risk of kidney stones .  Dialysis and transplantation—More than half of PKD patients develop kidney failure and require dialysis . Dialysis is used to remove wastes from the blood, since the kidneys cannot. At this stage, dialysis will be a lifelong requirement unless a kidney transplant from a donor can be arranged and performed successfully.
  • 100. Hypospadias:-  Hypospadias is a birth defect of the penis that commonly has four characteristics: The urethral opening is located on the underside of the penis, instead of the tip, and may exit the penis anywhere along its shaft as high as the scrotum.  The urethral opening is unusually narrow.  The entire foreskin may be bunched on the topside of the penis.  The penis itself may be curved to one side.  Causes:- The causes of hypospadias are unknown. There seems to be a genetic association, since a baby boy with a family history of hypospadias is slightly more likely to be born with the condition.  Treatment:-  Hypospadias is treated with surgery, usually when the child is between six and 18 months old.  The aims of surgery include repositioning the urethral opening at the tip of the penis, removing the abnormal foreskin (which gives a circumcised appearance), and correcting the bend in the penis (if it is present) to allow sexual function.  It is important not to have your son circumcised before the hypospadias repair, in case the foreskin is needed.
  • 101. Cryptorchidism:- ―The condition in which the testes failed to descend into the scrotum and are retained within the abdomen or inguinal canal.‖  Causes:- About five per cent of all boys are born with this condition. Premature and low birth weight babies are at increased risk.  Sign and symptoms:-  The symptoms of undescended testicles include:The scrotum is empty on the affected side.  Sometimes, the scrotum is empty on both sides.  The condition is painless.  Urination is not affected.  Treatment:-  Operation of orchidopexy is necessary to bring testes into the scrotum before puberty.
  • 102. INTERSEX:- ―Intersex‖ is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn‘t seem to fit the typical definitions of female or male. For example, a person might be born appearing to be female on the outside, but having mostly male-typical anatomy on the inside.  Causes:-  There are many causes of intersex conditions in infants. They can be roughly divided into prenatal (before birth) and postnatal (immediately following birth).  the most frequent and disturbing of postnatal causes are circumcision accidents that result in the permanent loss of an infant boy‘s penis.  Prenatal causes of intersex conditions include many genetic and chromosomal conditions.
  • 103. Treatment:-  Ideally, a team of health care professionals with expertise in intersex should work together to understand and treat the child with intersex -- and to understand, counsel, and support the entire family.  Parents should understand controversies and changes in treating intersex in recent years.  Surgery was often recommended.  It was considered easier to reconstruct female genitalia than functioning male genitalia, so if the "correct" choice was not clear, the child was often assigned to be a girl.
  • 104. AMBIGIUOUS GENITALIA:- Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.  Sign and Symptoms:-  Usually, ambiguous genitalia in genetic females (babies with two X chromosomes) has the following features:  An enlarged clitoris that looks like a small penis  The urethral opening (where urine comes out) can be along, above, or below the surface of the clitoris.  he labia may look like a scrotum  The infant may be thought to be a male with undescended testicles  Sometimes a lump of tissue is felt in the labia, further making it look like a scrotum with testicles.  In a genetic male (one X and one Y chromosome), ambiguous genitalia usually include the following features:  A small penis (less than 2-3 centimeters or 0.8-1.2 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth).  The urethral opening may be along, above, or below the penis; it can be as low as on the peritoneum, further making the infant appear to be female.  There may be a small scrotum that is separated and looks like labia.  Undescended testicles commonly occur with ambiguous genitalia.
  • 105. Causes:-  Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present.  Mixed gonadal dysgenesis (MGD). An intersex condition in which there are some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes  Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams.  Lack of testosterone cellular receptors. Even if the body makes the hormones needed to develop into a physical male, the body cannot respond to those hormones. This produces a female body-type, even if the genetic sex is male.  Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex  If the mother takes certain medications (such as androgenic steroids), they may make a genetic female look more male  Chromosomal abnormalities
  • 106. Treatment:-  Medications Hormone medications may help correct the hormonal imbalance. In some children, hormones may be administered shortly after birth and may be the only treatment necessary.  Surgery In children with ambiguous genitalia, surgery may be used to:  Preserve normal sexual function  Create more natural-looking genitals  For girls with ambiguous genitalia, the sex organs often work normally despite the ambiguous outward appearance. If a girl's vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may improve appearance and make erections possible.
  • 107. CONGENITAL ADRENAL HYPERPLASIA:- ―Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland. It is an autosomic recessive condition.‖  Causes:-  People have 2 adrenal glands, one located on top of each of their kidneys. These glands make hormones, cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal gland needs to make the hormones.  At the same time, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).  Sign and symptoms:-  Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has and their age when the disorder is diagnosed.  Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before symptoms appear.  Boys will appear normal at birth even if they have a more severe form.
  • 108. In children with the more severe form of the disorder, symptoms often develop within 2 or 3 weeks after birth.  Poor feeding or vomiting  Dehydration  Electrolyte changes (abnormal levels of sodium and potassium in the blood)  Abnormal heart rhythm  Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:  Abnormal menstrual periods or failure to menstruate  Early appearance of pubic or armpit hair  Excessive hair growth or facial hair  Failure to menstruate  Some enlargement of the clitoris  Boys with the milder form often appear normal at birth. However, they may appear to enter puberty early. Symptoms may include:  Deepening voice  Early appearance of pubic or armpit hair  Enlarged penis but normal testes  Well-developed muscles  Both boys and girls will be tall as children but much shorter than normal as adults.
  • 109. Treatment:-  The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking a form of cortisol, most often hydrocortisone, three times per day. People may need additional doses of medicine during times of stress, such as severe illness or surgery.  The health care provider will determine the genetic sex of the baby with abnormal genitalia by checking the chromosomes. Girls with male-looking genitals may have surgery during infancy to correct the abnormal appearance.  Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects, such as obesity or week bones.  It is important for parents to report signs of infection and stress to child's health care provider because the child may need more medication.  Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency.
  • 110. TERATOGENIC CAUSES:- ―Teratogens are substances or other factors that can cause congenital abnormalities, which are also called birth defects. Usually these abnormalities arise in the third to eighth weeks of pregnancy, when the major organ systems are forming. Examples of teratogens include certain chemicals, medications, and infections or other diseases in the mother.‖  Chemicals and medications  It is difficult to determine whether a particular chemical or medication causes congenital abnormalities. This is because many women take medications during pregnancy, and most studies have to rely on the mother‘s memory of what she took while she was pregnant.  Some anti-epileptic drugs are associated with a wide array of birth defects, such as cardiovascular abnormalities, cleft palate, and microcephaly, which is a condition where the brain is too small. These drugs include phenytoin, valproic acid, and trimethadione. Women with epilepsy need special monitoring and care during pregnancy, which may include a change in medication.  Warfarin, a blood-thinning drug, is a teratogen. Warfarin can cause central nervous system defects, including mental retardation, as well as problems with the optic nerves.  Drugs called angiotensin-converting enzyme (ACE) inhibitors, which are used to treat high blood pressure, can cause a number of problems during pregnancy. ACE inhibitors can cause fetal growth restriction, problems with the baby‘s kidneys, and sometimes death of the baby during pregnancy.
  • 111. Isotretinoin, which is used to treat severe acne, is also linked with a number of congenital abnormalities. These include cleft palate, heart defects, abnormalities of the outer ears, and underdevelopment of the lower jaw. Isotretinoin is also linked with neural tube defects.  Some types of tranquilizers, such as phenothiazine and lithium, are thought to be teratogens. Similarly, drugs used to treat anxiety, such as diazepam, are linked with congenital abnormalities such as cleft lip or palate.  Hormones called androgens and progestins have been shown to make female fetuses more masculine. The baby‘s clitoris may be larger than normal, and the outer lips surrounding her genitals may be fused.  Another hormone called diethylstilbestrol (DES), which is a form of estrogen, can cause abnormalities of the uterus, vagina, and cervix in girls.
  • 112. Alcohol, smoking, and other drugs Alcohol use is a well-known cause of congenital abnormalities during pregnancy. Abnormalities caused by alcohol in pregnancy include deformities of the face, arms, and legs, heart conditions, mental retardation, and fetal growth restriction. Cigarette smoking is linked with fetal growth restriction and premature birth. Smoking may also cause problems with the development of the brain, cardiovascular system, and respiratory system. Exposure to marijuana during pregnancy may result in low birth weight, intracranial bleeding, jitteriness, low blood sugar, low levels of calcium in the blood, or an infection of the blood called sepsis. The use of opioid drugs, such as heroin or methadone, during pregnancy can lead to fetal growth restriction, premature birth, and low birth weight. Cocaine use is known to cause numerous problems during pregnancy. These include miscarriage, fetal growth restriction, and problems with the development of the urinary system or genital tract
  • 113. Infections in the mother  ―CHEAP TORCHES‖ is an acronym for a special group of infections that can affect the developing baby during pregnancy. CHEAP TORCHES stands for the following:  C: Chickenpox and shingles H: Hepatitis B, C, D, E E: Enteroviruses, a group of viruses including poliovirus A: AIDS P: Parvovirus B19, also known as fifth disease  T: Toxoplasmosis O: Other infections such as group B streptococcus, listeria, candida R: Rubella C: Cytomegalovirus H: Herpes simplex virus E: Everything else sexually transmitted such as gonorrhea and chlamydia S: Syphilis
  • 114. Myles (text book of midwifes)  Medical dictionary  Adam.com  Medlineplus medical encyclopedia  Medicine.net  Kidshealth.com