Gnm nursing

2. Congenital anomalies can be defined
as structural or functional anomalies that occur
during intrauterine life. Also called birth
defects, congenital disorders, or congenital
malformations, these conditions develop
prenatally and may be identified before or at
birth, or later in life.

3. 1. Spina Bifida
Definition: Spina bifida is a birth defect that occurs when the spine and
spinal cord don't form properly. It's a type of neural tube defect. The
neural tube is the structure in a developing embryo that eventually
becomes the baby's brain, spinal cord and the tissues that enclose them.
Types
1. Spina bifida occulta: Occulta means hidden
2. Myelomeningocele: The spinal canal is open along several
vertebrae in the lower or middle back.
3. Meningocele: This rare type of spina bifida is characterized by a
sac of spinal fluid bulging through an opening in the spine. No
nerves are affected in this type, and the spinal cord isn't in the fluid
sac.

4. Cont…
Causes of spina bifida
• Myelomeningocele has genetic and micronutrient causes. Mothers who
have had a baby with spina bifida have up to a 4 percent risk of recurrence
in subsequent pregnancies.
Signs and Symptoms:
• Depending on the lesion’s location, myelomeningocele may cause:
• Bladder and bowel problems (incontinence)
• Sexual dysfunction
• Weakness and loss of sensation below the defect
• Inability to move the lower legs (paralysis) and other cognitive
impairments
• Orthopaedic malformations such as club feet or problems of the knees or
hips
• The brain develops an Arnold-Chiari II malformation, in which the
hindbrain herniates or descends into the upper portion of the spinal canal in
the neck.

6. Cont…
Complications: Severity is affected by:
• The size and location of the neural tube defect
• Whether skin covers the affected area
• Which spinal nerves come out of the affected area of the spinal
cord
• Walking and mobility problems.
• Orthopedic complications.
• Bowel and bladder problems.
• Accumulation of fluid in the brain (hydrocephalus).
• Shunt malfunction.
• Meningitis
• Sleep-disordered breathing.

7. Cont…
Diagnosis of spina bifida:
• High-resolution level II ultrasound — to confirm the diagnosis and
determine the location of the lesion, and to assess for any other birth
defects such as club feet
• Ultrafast fetal MRI — to confirm presence of the Chiari II
malformation and to screen for evidence of any other neurologic
abnormalities
• Fetal echocardiogram — to determine any problems with the heart
• Amniocentesis — to confirm the presence of elevated amniotic fluid
alpha-fetoprotein (AFAFP) levels and acetylcholinesterase (AChE),
which indicate open neural tube defects
• Maternal serum alpha-fetoprotein (MSAFP) test — to confirm
elevated AFP levels in the mother’s blood

8. Cont…
Spina bifida treatment:
The two main spina bifida treatment options are fetal surgery during
pregnancy or surgery on the baby right after birth.
1. Spina bifida surgery after birth: Traditional spina bifida
treatment takes the form of surgical repair 24 to 48 hours after
birth. The child will undergo general anesthesia. A pediatric
neurosurgeon removes the MMC sac, if one is present, and closes
the surrounding tissue and skin over the defect to protect the spinal
cord.
2. Spina bifida surgery before birth: Prenatal repair of
myelomeningocele (MMC), the most common and severe form
of spina bifida, is a delicate surgical procedure where fetal surgeons
open the uterus and close the opening in the baby's back while they
are still in the womb. Because spinal cord damage is progressive
during gestation, prenatal repair of myelomeningocele may prevent
further damage.

9. 2. Meningocele:
• Meningocele is one of the common congenital neural tube defects.
Meningocele is the simplest form of open neural tube defects characterized
by cystic dilatation of meninges containing cerebrospinal fluid without any
neural tissue.
• The prognosis of patients with meningocele is excellent with simple
surgical repair of the meninges.
Causes:
• Folate deficiency, likely combined with genetic and environmental risk
factors.
• Genetic syndromes associated with meningocele include HARD
(hydrocephalus, agyria, and retinal dysplasia), Meckel-Gruber syndrome,
trisomy 13 or 18. Maternal factors allied with an elevated risk for neural
tube defects include advanced and young maternal age, low socioeconomic
status, maternal alcohol use during pregnancy, smoking, caffeine use,
obesity, high glycemic index, or gestational diabetes.

10. Cont…
Signs and Symptoms:
• Most babies with a meningocele do not have any symptoms.
Although it doesn’t happen very often, sometimes the nerves around
the spine are damaged. This can lead to problems with movement
and controlling when pee and poop comes out and other medical
issues.
Diagnosis:
• A blood test called alpha-fetoprotein (AFP) done during pregnancy
can tell if a baby is at risk for a meningocele. A prenatal
ultrasound or fetal MRI can show whether a baby has one.
• A meningocele that's not diagnosed during pregnancy is seen when
the baby is born.

11. Cont…
How Is Meningocele Treated?
• A baby born with a meningocele will need surgery. The
surgeon puts the meningocele back into the spine area.
Usually, no other treatment is needed.

12. 3. Hydrocephalus
• Hydrocephalus is a buildup of fluid in the brain, or more
precisely, cerebrospinal fluid in the ventricular system, which
causes potentially damaging increased pressure in the head.
Most children who have it are born with it. It occurs in one or
two per 1,000 live births.
• Hydrocephalus is the most common reason for brain surgery in
children.
• Hydrocephalus comes from Greek words “hydro,” meaning
“water,” and “cephalus,” meaning “head.

13. Cont…
Causes:
• Inborn irregularities of the nervous system, such as
o Chiari malformation
o Neural tube defects, such as spina bifida
o Dandy-Walker syndrome (a congenital brain malformation involving the cerebellum and
the fluid-filled spaces around it)
• Arachnoid cysts
• Infection, such as meningitis
• Interventricular hemorrhage, which can affect premature
babies
• Tumor in the back of the brain (posterior fossa)
• Head injury
Signs and Symptoms:

14. Cont…
Infants: Toddlers and older children
• bulging fontanel, which is the
soft spot on the surface of the
skull
• a rapid increase in head
circumference
• eyes that are fixed downward
• seizures
• extreme fussiness
• vomiting
• excessive sleepiness
• poor feeding
• low muscle tone and strength
• short, high-pitched cries
• personality changes
• changes in facial structure
• crossed eyes
• headaches
• muscle spasms
• delayed growth
• trouble eating
• extreme sleepiness
• irritability

15. Cont…
Diagnosing hydrocephalus
1. Physical examination
• In children, doctors check for:
• eyes that are sunken in
• slow reflexes
• a bulging fontanel
• a head circumference that’s larger than usual for their age
2. Ultrasound scan
3. Magnetic resonance imaging (MRI) scans
4. Computerized tomography (CT) scans

16. Cont…
Complication:
• Headache.
• Vision problems.
• Nausea or vomiting.
• Feeling tired.
Or new symptoms, such as:
• Soreness of your neck or shoulder muscles.
• Seizures.
• Redness or tenderness along the shunt area.
• Low fever.

17. Cont…
Treatment for hydrocephalus:
1. Shunt insertion
• In most cases, a surgeon surgically inserts a shunt.
• The shunt is a drainage system consisting of a long tube with a valve. The
valve helps CSF flow at a normal rate and in the right direction. Your
doctor inserts one end of the tube in your brain and the other end into your
chest or abdominal cavity.
• Excess fluid then drains from the brain and out the other end of the tube,
where it becomes easier to absorb. A shunt implant is typically permanent
and requires regular monitoring.
2. Ventriculostomy
• A surgeon can perform a procedure called a Ventriculostomy as an
alternative to shunt insertion. This involves making a hole at the bottom of
a ventricle or in between ventricles, allowing CSF to leave the brain and
relieving pressure.

18. Cont…
Prevention of hydrocephalus:
• Prenatal care. Make sure you get prenatal care during pregnancy.
This can help reduce your chance of going into premature labor,
which can lead to hydrocephalus.
• Vaccinations. Getting vaccinations can help prevent illnesses and
infections that are linked to hydrocephalus. Having regular
screenings can also ensure that you get prompt treatment for
illnesses or infections that could increase your risk of
hydrocephalus.
• Safety equipment. Use safety equipment, like helmets, to prevent
head injuries when doing activities like riding a bike. You can also
lower your risk of head injuries by always wearing a seat belt.
• Buying safe gear for younger children. It’s essential to secure
young children in a car seat. You can also prevent head injuries by
making sure your baby equipment, like strollers, meets safety
standards.

19. 4. Cerebral palsy
• Cerebral palsy (CP) refers to a group of disorders that affect muscle
movement and coordination. In many cases, cerebral palsy also affects
vision, hearing, and sensation.
• The word “cerebral” means having to do with the brain. The word “palsy”
means weakness or problems with body movement.
Causes:
• Gene mutations that result in genetic disorders or differences in brain
development
• Maternal infections that affect the developing fetus
• Fetal stroke, a disruption of blood supply to the developing brain
• Bleeding into the brain in the womb or as a newborn
• Infant infections that cause inflammation in or around the brain
• Traumatic head injury to an infant, such as from a motor vehicle
accident, fall or physical abuse
• Lack of oxygen to the brain related to difficult labor or delivery, although
birth-related asphyxia is much less commonly a cause than historically
thought

20. Cont…
Common symptoms include:
• delays in reaching motor skill milestones, such as rolling
over, sitting up alone, or crawling
• difficulty walking
• variations in muscle tone, such as being too floppy or too stiff
• spasticity, or stiff muscles and exaggerated reflexes
• ataxia, or a lack of muscle coordination
• Tremors or involuntary movements
• delays in speech development and difficulty speaking
• excessive drooling and problems with swallowing
• favoring one side of the body, such as reaching with one hand
• neurological issues, such as seizures, intellectual disabilities,
and blindness

21. Cont…
Complications:
• Contracture.
• Malnutrition.
• Mental health conditions.
• Heart and lung disease.
• Osteoarthritis.
• Osteoporosis.
• Other complications: These can include sleep disorders,
chronic pain, skin breakdown, intestinal problems and issues
with oral health.

22. Cont…
Diagnosis:
• Brain scans: MRI, Cranial Ultrasound
• Electroencephalogram (EEG)
• Laboratory tests
• Additional tests: Vision, Hearing, Speech, Intellect, Development,
Movement, Other medical conditions.
Treatment:
• Muscle or nerve injections. To treat tightening of a specific
muscle, your doctor might recommend injections of
onabotulinumtoxinA (Botox), or another agent. The injections
will need to be repeated about every three months.
• Oral muscle relaxants. Drugs such as baclofen, tizanidine (Zanaflex),
diazepam (Valium) or dantrolene (Dantrium) are often used to relax
muscles.
• Medications to reduce drooling. One option is Botox injections into the
salivary glands.

23. Cont…
Surgical procedures:
• Orthopedic surgery: Children with severe contractures or
deformities might need surgery on bones or joints to place
their arms, spine, hips or legs in their correct positions.
• Cutting nerve fibers (selective dorsal rhizotomy). In some
severe cases, when other treatments haven't helped, surgeons
might cut the nerves serving specific spastic muscles in a
procedure called selective dorsal rhizotomy. This relaxes the
muscle in the legs and reduces pain, but can cause numbness.

25. Cleft lip and Cleft palate:
Cleft Lip: A cleft lip is a physical split or separation of the two sides
of the upper lip and appears as a narrow opening or gap in the skin of
the upper lip.
 This separation often extends beyond the base of the nose and
includes the bones of the upper jaw and/or upper gum.
Cleft palate: A cleft palate is a split or opening in the roof of the
mouth.
 A cleft palate can involve the hard palate (the bony front portion of
the roof of the mouth), and/or the soft palate (the soft back portion
of the roof of the mouth).
Cleft lip and cleft palate can occur on one or both sides of the mouth.
Because the lip and the palate develop separately, it is possible to have
a cleft lip without a cleft palate, a cleft palate without a cleft lip, or both
together.

28. Cont…
Causes:
• Inheritance
• Medication like: ant seizure medications, acne treatment
medications containing Accutane®, or methotrexate, a drug
commonly used for treating cancer, arthritis and psoriasis
Other factors that can contribute to the development of a cleft include:
• Vitamin deficiency (folic acid).
• Having obesity.
• Smoking or tobacco use during pregnancy.
• Substance abuse.
• Birth disorders

29. Cont…
• Signs and Symptoms:
• Signs and symptoms of sub mucous cleft palate may include:
• Difficulty with feedings
• Difficulty swallowing, with potential for liquids or foods to come
out the nose
• Nasal speaking voice
• Chronic ear infections
Diagnosis:
• Prenatal ultrasound can diagnose most clefts of the lip because clefts
cause physical changes in the fetus's face. Isolated cleft palate (no
cleft lip present) is detected in only 7% of babies with the condition
during the prenatal ultrasound because it's difficult to see.
• If a cleft has not been detected in an ultrasound before the baby is
born, a physical exam of the mouth, nose and palate can diagnose
cleft lip or cleft palate after birth.

30. Cont…
Complications
• Children with cleft lip with or without cleft palate face a variety of
challenges, depending on the type and severity of the cleft.
• Difficulty feeding. One of the most immediate concerns after birth
is feeding. While most babies with cleft lip can breast-feed, a cleft
palate may make sucking difficult.
• Ear infections and hearing loss. Babies with cleft palate are
especially at risk of developing middle ear fluid and hearing loss.
• Dental problems. If the cleft extends through the upper gum, tooth
development may be affected.
• Speech difficulties. Because the palate is used in forming sounds,
the development of normal speech can be affected by a cleft palate.
Speech may sound too nasal.
• Challenges of coping with a medical condition. Children with
clefts may face social, emotional and behavioral problems due to
differences in appearance and the stress of intensive medical care.

31. Cont…
Treatment: Treatment involves surgery to repair the defect and
therapies to improve any related conditions.
Surgery to correct cleft lip and palate is based on your child's
particular situation. Following the initial cleft repair, your doctor may
recommend follow-up surgeries to improve speech or improve the
appearance of the lip and nose.
Surgeries typically are performed in this order:
• Cleft lip repair — within the first 3 to 6 months of age
• Cleft palate repair — by the age of 12 months, or earlier if possible
• Follow-up surgeries — between age 2 and late teen years
• Cleft lip and palate surgery takes place in a hospital.
Your child will receive a general anesthetic, so he or she won't
feel pain or be awake during surgery. Several different surgical
techniques and procedures are used to repair cleft lip and palate,
reconstruct the affected areas, and prevent or treat related
complications.

32. Cont…
Treatment for complications:
• Your doctor may recommend additional treatment for complications
caused by cleft lip and cleft palate. Examples include:
• Feeding strategies, such as using a special bottle nipple or feeder
• Speech therapy to correct difficulty with speaking
• Orthodontic adjustments to the teeth and bite, such as having braces
• Monitoring by a pediatric dentist for tooth development and oral
health from an early age
• Monitoring and treatment for ear infections, which may include ear
tubes
• Hearing aids or other assistive devices for a child with hearing loss
• Therapy with a psychologist to help the child cope with the stress of
repeated medical procedures or other concerns

34. Tracheoesophageal fistula:
• Tracheoesophageal fistula (TEF) and esophageal atresia (EA)
is spectrum of congenital malformations involving trachea and
esophagus with or without abnormal communication between
the two.
• TEF is usually Et lip associated with anomalies of vertebra,
ano-rectum, heart, kidney and skeleton.
• .

35. Cont…
Types:
1. Tracheoesophageal fistula with esophageal atresia. This is the
commonest variety seen in more than 80% cases. The upper
part of esophagus ends blindly and the lower part is
connected to the trachea by a fistula
2. Esophageal atresia without fistula.
3. Tracheoesophageal fistula without atresia (H type fistula).
4. Proximal tracheoesophageal fistula with esophageal atresia.
5. Proximal and distal fistula with esophageal atresia.

37. Cont…
• DIAGNOSIS:
A. Prenatal Diagnosis : Diagnosis before birth is possible by ultrasound
examination of the fetus. The mother has polyhydramnios and there is
small or absent gastric bubble in the fetal abdomen. In such a case, mother
is transported to a tertiary care centre for delivery and surgical
management of the newborn.
B. Diagnosis after Birth Suspect TEF in a child who has continuous drooling
and frothing of saliva from the mouth. The newborn develops choking and
coughing on feeds and may regurgitate. This may be associated with
cyanosis, respiratory distress, and inability to accept feeds. Abdomen is
distended, if the distal fistula is present and scaphoid, if there is no fistula.
• The diagnosis can be confirmed by inserting a nasogastric tube in the upper
pouch and taking a radiograph that demonstrates coiling of the tube in the
upper pouch. Contrast study is rarely necessary for the diagnosis.
• Bronchoscopy is done on the operating table to document the fistula. This
is especially useful to demonstrate H type fistula.

38. Cont…
Preoperative Nursing Care
• Shift the child to NICU, maintain temperature and start IV
fluids.
• Position the child in a slightly head-up posture. Feeds are
withheld.
• Insert a sump catheter (double lumen) like Replogle tube in the
upper pouch and connect to continuous slow suction apparatus
to prevent aspiration of saliva. If not available, perform
intermittent suction of the upper pouch with a soft-tip suction
catheter.
• Give broad-spectrum antibiotics as per antibiotics policy.
• Chest physiotherapy and humidification is very important.

39. Cont…
Surgical Treatment:
• The definitive treatment of the condition includes
thoracotomy, division of the tracheoesophageal fistula and
end-to-end anastomosis of the esophagus. This procedure
gives the best results. This can be performed also.
• A staged procedure is done, only sick to stand the stress of the
surgery. In this, fistula is ligated after thoracotomy and
gastrostomy is performed. The gap between the two ends of
esophagus is bridged at a later stage using stomach or colon..
• In case a primary, anastomosis cannot be performed primarily
esophagosotomy and gastrostomy is performed followed by
esophageal reconstruction at later age.

40. Cont…
Post-operative Nursing Care:
• Take care of temperature, fluid resuscitation and administer
antibiotics.
• Maintain the child in slightly upright position to prevent aspiration
of saliva.
• Do continuous slow suction or intermittent suction. Take care to
avoid injury to the upper pouch by vigorous suctioning.
• Perform chest physiotherapy to improve the chest condition.
• Feeding through the trans-anastomotic tube is started after 48 to 72
hours of repair. Expressed breast-milk of the mother is the best feed.
• In case of accidental removal of the feeding tube, do not attempt to
re-insert it. Inform the surgeon who shall take decision about further
management.
• In case a gastrostomy is performed, care of the tube is important.
Clean the tube with clear fluid after each milk feed to prevent
blockage.

41. 2. HYPERTROPHIC PYLORIC STENOSIS
This in which there is increased thickening of the circular
muscles of the pylorus of the stomach. This leads to obstruction
of the lumen and decreases the forward flow of the stomach
contents into the duodenum.
CLINICAL FEATURES:
• Occurs in first month of life and is more common in males.
• There projectile vomiting, which is non-bilious. Child is
otherwise healthy and remains hungry after vomiting.
• Visible peristaltic waves may be seen moving from left to right
in upper abdomen.
• Careful examination reveals a mass in the upper abdomen.
Some babies may have jaundice.
• Ultrasound or barium meal upper GIT are used for
confirmation of the diagnosis.

44. Cont…
TREATMENT:
• Correct fluid and electrolyte balance, prior to the operation. Usually,
there is associated metabolic alkalosis that needs correction. Stop
feeding and do a stomach-wash to reduce edema of stomach wall.
• The operative procedure done is Ramstedt's pyloromyotomy. In this
procedure, the thickened muscles of the pylorus are divided along
the length of pylorus till the mucosa is seen.
• After surgery, the baby can be fed after 18-24 hours with small
quantity of clear fluids, which can be increased gradually, if the
patient tolerates. Feeds should be withheld in case of vomiting.
Antibiotics are given as per advice.
Common postoperative complications include
(i) vomiting due to incomplete myotomy;
(ii) perforation of the pyloric mucosa;
(iii) hemorrhage;
(iv) wound infection.

45. 3. Congenital diaphragmatic hernia
• Congenital diaphragmatic hernia (CDH) is characterized by a defect
in the diaphragm. The diaphragmatic defect leads to herniation of
the abdominal contents into thoracic cavity. Exact cause of this
anomaly is unknown. The defect is more common on the left side
(80%) and is rarely bilateral. The lung development is defective
resulting in their hypoplasia.
Causes:
• A congenital diaphragmatic hernia (CDH) is due to the abnormal
development of the diaphragm while the fetus is forming. A defect
in the diaphragm of the fetus allows one or more of their abdominal
organs to move into the chest and occupy the space where their
lungs should be.
• Chromosomal and genetic abnormalities, environmental exposures
and nutritional problems may all have a role in the formation of
these hernias.

47. Cont…
Symptoms:
• Difficulty breathing
• Tachypnea (rapid breathing)
• Blue discoloration of the skin
• Tachycardia (rapid heart rate)
• Diminished or absent breath sounds
• Bowel sounds in the chest area
• Less full abdomen

48. Cont…
Diagnosis:
• Physical Examination
• X-ray
• ultrasound scan (uses sound waves to produce images of the
thoracic and abdominal cavities and their contents)
• CT scan (allows for direct viewing of the abdominal organs)
• Arterial blood gas test (takes blood directly from an artery and
tests for levels of oxygen, carbon dioxide, and acidity, or pH
level)
• MRI (for more focused evaluation of organs especially in a
fetus)

49. Cont…
• Management:
1. Fetal Endoscopic Tracheal Occlusion (FETO) is a treatment
reserved for a few babies with very severe CDH. Using a tiny
fetoscope, a small detachable balloon is placed in the baby's trachea
during the mid-second trimester. Since the fetal lung normally
produces fluid, the balloon prevents this fluid from escaping the
lungs. In turn, the gentle pressure from the fluid build-up causes
the small lung to expand and grow.
2. Postnatal treatment of congenital diaphragmatic hernia
• All babies with congenital diaphragmatic hernia are at high risk of
severe breathing problems due to the underdevelopment of the
lungs. Managing any degree of breathing distress is the first and
most important step in caring for these babies.

50. Cont…
• A breathing tube is immediately placed after birth to assist the baby
with breathing. A small tube is then inserted into the stomach to
prevent air build up that could cause pressure on the lungs. Repair of
the CDH is delayed until the baby is stable from a heart and lung
standpoint.
3. Surgery:
• These smaller defects are repaired primarily with sutures. However,
many babies require a standard abdominal incision to repair the
diaphragm. The larger defects often require a special patch to
complete the closure.
• Operative procedure consists of laparotomy, reduction of the
thoracic contents and repair of the diaphragm with non-absorbable
sutures for the left sided hernia. For the right-sided defects,
thoracotomy and repair of the defect is preferred. Repair of
congenital diaphragmatic hernia can be performed thoracoscopically
or laparoscopically also.

51. Cont…
NURSING CARE OF DIAPHRAGMATIC HERNIA:
1. Preoperative Nursing Care:
• Resuscitation of the child is of paramount importance. If the child does not
cry, no attempt should be made to put the child upside down and tap the
back, as is general practice as this aggravates the hernia and subsequent
distress.
• If artificial respiration is needed, bag and mask ventilation with ambu bag
should not be done. This may push air into the intestines and worsen the
respiration. Endotracheal intubation is the preferred method for ventilation.
• Nasogastric tube is inserted to decompress the stomach.
• Blood samples are taken for hematological and biochemical parameters
including acid-base status.
• Attention is given for maintenance of proper temperature (rectal 37°C),
normal glucose levels (between 60-90 mg/dL) and blood volume (as
indicated by good pulses).
• Metabolic disturbances are corrected adequately.• Mechanical ventilation
may be required for babies with severe distress for stabilization prior to
surgery.

52. Cont…
2. Postoperative Nursing Care:
• Provide general nursing care including vital signs monitoring. Many
times the patients require ventilator support in the postoperative
period to overcome respiratory embarrassment.
• Postoperative X-ray chest is done to document lung expansion.
Nasogastric aspiration is continued.
• Adequate fluid resuscitation is given. Care of the intercostal tube
inserted during the surgery is done.
• Underwater seal is connected to the chest tube.
• The bag should not be raised above the level of patient to prevent
backflow of fluid.
• Connecting tube should be clamped during and reopened after the
transfer. This tube can be removed after 48-72 hours.

53. 4. ANORECTAL MALFORMATIONS:
• This is either absent or located abnormally. These defects
present at birth and need early diagnosis by careful
examination by the attending physician or the nursing
personnel. These can be associated with other congenital
cardiac, gastrointestinal, vertebral, genitourinary, and limb
anomalies.
• The anorectal malformations are classified into low,
intermediate and high type depending on their relation with the
levator muscles.

55. Cont…
CLINICAL FEATURES:
• The presentation can be different in the male and the female newborn
babies:
1. Male: The male child usually presents with an absent anal opening and is
diagnosed at birth. There may be a history of passage of meconium or air
bubbles through the urethral opening, if there is a high anomaly with
fistula. The intermediate type also usually presents like high type. In low
anomalies, there is covered anus, bucket handle anomaly or ano-cutaneous
fistula .
2. The girl child usually has a fistula in the perineum. Cloacal anomaly
presents with a single opening in the perineum through which the baby
passes both meconium and urine. In some cases, there is an opening in the
vagina or vestibule and the baby passes meconium through this fistulous
site in the vestibule. In low anomalies, the anus is placed anteriorly or
there is anovestibular fistula.

56. Cont…
TREATMENT:
General Measures:
• Do an invertogram (X-ray of the infant, held upside down) or
prone cross-table X-ray in doubtful cases.
• Insert nasogastric tube to rule out esophageal atresia and
decompress stomach.
• Do not feed the child and start intravenous fluids.
• Give vitamin K 1 mg, antibiotics (ampicillin and gentamicin)
and metronidazole.
• Reassure the parents and explain the nature of anomaly.
Emphasize that the child may require multiple surgical
procedures to correct the malformation."

57. Cont…
Management:
• Most babies with an anorectal malformation will need to have
surgery to correct the problem. The type and number of surgeries
needed will vary. It depends on the type of problem your child has.
These problems include the following:
1. Narrow anal passage
• Surgery may not be needed. A procedure known as anal dilation may
be done from time to time. This helps to stretch the anal muscles so
stool can pass through.
2. Anal membrane
• Surgery is done to remove the membrane. Anal dilations may need
to be done to help with any narrowing of the anal passage.

58. Cont…
3. Lack of rectal or anal connection, with or without a fistula
• A series of surgeries is done to repair the problem. These
surgeries include:
• Colostomy
• Attaching the rectum to the anus.
• Closing the colostomies.

60. 1. PHIMOSIS AND
PARAPHIMOSIS
• Prepuce is the skin that covers the glans penis and can be
retracted over it. It has a protective function and prevents
injury to glans by friction and the urine that can cause meatal
ulceration. At birth, the prepuce is retractable only in about 5%
boys. In the rest, there is preputial adhesion that separates with
age. Physiological adhesions of the prepuce do not need
treatment as these resolve with increasing age of the any child.

62. Cont…
PHIMOSIS:
• Phimosis is characterized by an opening of the prepuce that is
so tight that it causes a voiding problem or inflammation of the
glans, prepuce or both.
• Forceful retraction of the prepuce causes preputial ulceration
that heals by fibrosis and worsens the condition. The child is
brought to the hospital because of very tight prepuce or
ballooning of the prepuce during the act of micturition.
• The treatment of choice for phimosis is circumcision. Local
application of steroid ointment has been found to be helpful in
some cases.

63. Cont…
CIRCUMCISION:
• Circumcision is the treatment of choice for phimosis and indicated in
following situations:
i. Voiding problems;
ii. Retention of urine
iii. Recurrent urinary tract infections
iv. Collection of smegma under prepuce
v. Religious reasons. Muslims and Jewish population practice circumcision
as a ritual.Routine circumcision in the neonatal period is said to decrease
the incidence of urinary tract infection, paraphimosis, zipper injuries,
penile carcinoma and sexually transmitted diseases.
• Following circumcision, the child should be watched for bleeding and
protected from secondary infection.
• Avoid abrasion injuries to the glans.
• Hypospadias is an absolute contraindication for circumcision. Nursing care
for circumcision is encased

64. Cont…
Nursing Care for Circumcision
1. Keep the area clean.
2. Do not perform forceful retraction of the prepuce.
3. After circumcision, care of the dressing should be done.
4. Allow the dressing to fall off by wetting and do not strip it
away.
5. Adequate pain relief is given to the child.
6. Parents of a child with hypospadias should be counseled
against circumcision.

65. Cont…
Paraphimosis:
• Paraphimosis is defined as entrapment of tight prepuce behind the
glans penis. Once a tight prepuce is retracted behind the glans, it
becomes swollen and cannot be replaced over the glans penis. This
is painful.
Treatment:
• This is an emergency condition.
• The aim should be to replace the prepuce over the glans after
reducing the edema.
• Cold compresses or local injection of hyaluronidase in the prepuce
may reduce the swelling.
• As a last resort, dorsal slit or emergency circumcision may be done.

66. 2. ECTOPIA VESICAE:
DEFINITION:
• Ectopia vesicae is an abnormality of the bladder and the lower
abdominal wall in which the anterior wall of the urinary
bladder is absent. This is associated with epispadias, i.e.
presence of urethral meatus on the dorsal (upper) aspect of the
penis.
• Ectopia vesicae (also known as exstrophy of bladder) and
epispadias are presented together since they are related in
embryological origin and management.

68. Cont…
CLINICAL FEATURES:
• The posterior wall of the urinary bladder is exposed with widely separated
pubic symphysis bones.
• Urine is seen leaking continuously from the opening on this reddish mucosal
membrane.
• In males, there is associated epispadias while in females, it is associated with
bifid clitoris. Hernia may also be present.
Management:
• The treatment of the condition is surgical and its objectives are to obtain
(a) Secure bladder wall closure
(b) Urinary continence with the preservation of renal function
(c) Reconstruction of a functional and cosmetically acceptable penis in the male.
In the staged functional closure, the bladder is closed immediately after birth and
preferably within 72 hours.
The epispadias is closed at about 1 year and procedure to achieve continence are
done at about 4 years of age.

69. Cont…
NURSING CARE FOR A CHILD WITH ECTOPIA VESICAE
• Role of the nursing personnel begins soon after the birth of the
child. This is a psychologically disturbing period for the parents.
They feel guilty holding themselves responsible for the abnormality
in the child. Provide emotional support and reassurance and explain
about the further treatment.
• Prevent hypothermia and infection.
• Feeds are given till the child is taken up for surgery. Intravenous
fluids and antibiotics are given.
• Cover the exposed bladder mucosa with non-adherent gauze or wet
gauze piece to prevent adhesion and drying up of the mucosa. The
skin around the exposed bladder is protected.
• .

70. Cont…
• Keep the child dry as urine is dribbling all the time but take
care not to rub the bladder mucosa as it can cause bleeding.
• After the surgery, apart from the general nursing measures,
take care to prevent dislodgement of various catheters.
• If an osteotomy has been performed, the child is kept in
traction. As the child cannot be moved, maintain local hygiene
and avoid any contamination of the dressing with fecal matter.
• If a conduit has been provided, explain the parents about its
management, possible complications like excoriation,
prolapse, stenosis, etc. and application of urine collection bag

71. 3. Hypospadias and
Epispadias
• Hypospadias refers to a condition in which the urethral meatus
opens at an abnormal site on the ventral aspect of the penis
This is usually associated with hooded prepuce and chordee
(bend in the shaft) of the penis.
• Epispadias is a rare birth defect, a condition a baby is born
with. It affects the urethra, the tube that carries urine outside of
the body from the bladder. In a baby with epispadias, the
urethra doesn’t fully develop.
• Epispadias usually happens in males, though epispadias in
females is rarer.

74. Cont…
Hypospadias:
Causes:
• The problem occurs during pregnancy. The penis begins to develop
at around the eighth week of pregnancy. The urethra defect happens
between weeks nine and 12.
• Certain factors in the mother can increase the risk of the baby
having hypospadias, including moms who:
• Carry extra weight (obesity).
• Are over age 35.
• Use fertility treatment to get pregnant (possibly because of exposure
to progesterone, a hormone used during fertilization).
• Use other hormones before or during pregnancy.
• Have exposure to pesticides.
• Smoke.

75. Cont…
Signs and Symptoms:
In children with hypospadias, symptoms include:
• Chordee: Penis curves downward.
• Undescended testicle: One of the testicles doesn’t fully
descend into the scrotum (in about 10% of cases)
• Undeveloped foreskin: The skin that covers the head of the
penis isn’t complete. Babies with hypospadias should not
be circumcised.
• Abnormal urination: Urine doesn’t spray in a straight stream

76. Cont…
Management:
• Surgery can correct hypospadias. With newer surgical methods,
children can have corrective surgery at an earlier age.
• The goal of hypospadias repair is a straight penis with a urethra in
the right spot, at the penis tip. Babies with hypospadias should not
be circumcised. The surgeon may use extra skin from the
uncircumcised foreskin to do the repair.
1. During the surgery, the urologist:
2. Straightens the penis shaft.
3. Builds a new urethra.
4. Positions the urethral opening at the tip of the penis.
5. Reconstructs the foreskin.

77. Cont…
Epispadias:
Causes:
• It occurs when a developing baby has a problem with the
cloacal membrane. This membrane covers the cloaca, which
normally develops into the gastrointestinal, urinary and
reproductive organs.
How does epispadias affect males?
• A baby boy with epispadias has:
• A penis that’s short, wide and curves up, called dorsal chordee.
• A meatus on top of the penis rather than at the tip. The meatus
is the hole or opening of the urethra. With epispadias, a deep
groove often runs between the meatus and tip of the penis.

78. Cont…
How does epispadias affect females?
• Baby girls may have:
• A urethral opening toward the clitoris or even in the lower
abdomen (belly).
• Pubic bones that are separated, so the clitoris can’t connect in
the middle.
• Labia (the folds of skin outside of the vagina) that don’t form
properly.
• Problems with the bladder neck, resulting in urine
control issues.

79. Cont…
Treatment:
• Surgery can correct epispadias to improve the look and function of
the genitals.
Epispadias surgery for boys aims to improve:
• Penis function, size and look.
• Good urine control, if the bladder was affected.
• Future fertility, which is more of a concern if the bladder develops
outside of the fetus (exstrophy) along with the epispadias.
Surgery types include:
• Modified Cantwell-Ransley technique rebuilds the penis. The
surgeon may take partially reconstruct the penis and move the
urethra to a better location.
• Mitchell technique completely reconstructs the penis. This ensures
the urethra is in the best position and corrects chordee.

80. Cont…
Girls typically need less complex epispadias surgery than boys
do. Usually, fertility isn’t an issue as epispadias doesn’t
commonly affect the female reproductive system. The type of
surgery may depend on how early a provider diagnosed
epispadias.
If epispadias is diagnosed at birth, urinary control most likely
won’t be a problem. Healthcare providers can:
• Connect the two parts of the clitoris.
• Place the urethra in the correct location.
If the problem isn’t diagnosed or treated until later, girls may
need surgery to:
• Correct incontinence (lack of urine control).
• Reconstruct a narrow vaginal opening.

81. 4. CRYPTORCHIDISM:
Definition:
CRYPTORCHIDISM or UNDDESENDED TESTES refers a failure of
testicular decent into the scrotum.
Causes and risk factors:
• Idiopathic ( a combination of genetics, maternal health and other
environmental factors may disrupt the hormones and physical
changes that influence the development of the testicles.
• Severely premature infants can be born before decent of testes
• LBW (Low birth weight)
• Diabetes mellitus and obesity of the mother
• Maternal exposure to estrogen during the first trimester

83. Cont…
• Risk factors also include exposure to regular alcohol intake
during pregnancy
• Cigarette smoking during pregnancy also known risk factor
• Family history of Undescended testicle (a recent study found
that almost 23 % of patients with Undescended testes had a
positive family history of cryptorchidism although it exact
mechanism of action is unknown.

84. Cont…
Management or treatment:
The objective of treatment of cryptorchidism include.
• Reducing the risk of impairment of fertility.
• prevent testicular cancer and or associated inguinal hernia
• The primary treatment management of cryptorchidism waitful
watching due to the like hood of self – resolution Surgical
therapy include “ Orchiopexy” ( surgically repositioning of the
testes within the scrotal sac.

86. Cont…
Complications:
• Local pain
• skin discoloration
• Bleeding
• Infection
• Trauma to artery
• Failure rate
• Hematoma

87. 5. Polycystic Kidney Disease:
• Polycystic kidney disease is a rare genetic disorder that affects
1 in 20,000 children. A fetus or baby with this condition has
fluid-filled kidney cysts that may make the kidneys too big, or
enlarged. This can cause a child to have poor kidney function,
even in the womb.
Etiology:
• The 3 basic processes involved in renal cyst formation and
progressive enlargement are as follows[4, 5] :
• Tubular cell hyperplasia
• Tubular fluid secretion
• Abnormalities in tubular extracellular matrix and/or function

88. Cont…
Symptoms:
• Polycystic kidney disease symptoms can include:
• High blood pressure
• Back or side pain
• Blood in your urine
• A feeling of fullness in your abdomen
• Increased size of your abdomen due to enlarged kidneys
• Headaches
• Kidney stones
• Kidney failure
• Urinary tract or kidney infections

89. Cont…
Types:
1. Autosomal dominant polycystic kidney disease (ADPKD). Signs
and symptoms of ADPKD often develop between the ages of 30 and
40. In the past, this type was called adult polycystic kidney disease, but
children can develop the disorder.
• Only one parent needs to have the disease for it to pass to the
children. If one parent has ADPKD, each child has a 50% chance of
getting the disease. This form accounts for most of the cases of
polycystic kidney disease.
2. Autosomal recessive polycystic kidney disease (ARPKD). This
type is far less common than is ADPKD. The signs and symptoms often
appear shortly after birth. Sometimes, symptoms don't appear until later
in childhood or during adolescence.
• Both parents must have abnormal genes to pass on this form of the
disease. If both parents carry a gene for this disorder, each child has
a 25% chance of getting the disease.

90. Cont…
• The infantile type present with palpable bilateral nodular
cystic masses with hypertension and progressive renal failure.
There may be associated abnormalities in several other organs
of the body like hepatic fibrosis/dilated bile duct.
• Renal transplantation is the only hope for these children.
• The adult variant is usually associated with anemia, polyuria,
renal osteodystrophy and hypertension

92. Ambiguous Genitalia:
• Ambiguous genitalia is a rare condition in which an infant's
external genitals don't appear to be clearly either male or
female. In a baby with ambiguous genitalia, the genitals may
be incompletely developed or the baby may have
characteristics of both sexes. The external sex organs may not
match the internal sex organs or genetic sex.
• Ambiguous genitalia isn't a disease, it's a disorder of sex
development.

93. Cont…
Symptoms:
Babies who are genetically female (with two X chromosomes) may have:
• An enlarged clitoris, which may resemble a penis
• Closed labia, or labia that include folds and resemble a scrotum
• Lumps that feel like testes in the fused labia
Babies who are genetically male (with one X and one Y chromosome) may
have:
• A condition in which the narrow tube that carries urine and semen (urethra)
doesn't fully extend to the tip of the penis (hypospadias)
• An abnormally small penis with the urethral opening closer to the scrotum
• The absence of one or both testicles in what appears to be the scrotum
• Undescended testicles and an empty scrotum that has the appearance of a
labia with or without a micropenis

94. Cont…
Causes:
1. Possible causes in genetic females:
• Congenital adrenal hyperplasia.
• Prenatal exposure to male hormones.
• Tumors
2. Possible causes in genetic males:
• Impaired testicle development.
• Androgen insensitivity syndrome.
• Abnormalities with testes or testosterone.
• 5a-reductase deficiency.

95. Cont…
Complications:
• Infertility.
• Increased risk of certain cancers.
Diagnosis:
• Your medical team will likely recommend these tests:
• Blood tests to measure hormone levels
• Blood tests to analyze chromosomes and determine the genetic
sex (XX or XY) or tests for single gene disorders
• Ultrasound of the pelvis and abdomen to check for
undescended testes, uterus or vagina
• X-ray studies using a contrast dye to help clarify anatomy

96. Cont…
Treatment
• Hormone medications may help correct or compensate for the
hormonal imbalance.
Surgery: In children with ambiguous genitalia, surgery may be
used to:
• Preserve normal sexual function
• Create genitals that appear more typical
• The timing of surgery will depend on your child's specific
situation.

97. Cont…
• For girls with ambiguous genitalia, the sex organs may 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
normalize appearance and make erections possible. Surgery to
reposition the testes into the scrotum may be required.

99. 1. CONGENITAL TALIPES EQUINOVARUS
(CTEV)
• CTEV, as the name indicates, is a congenital disorder in which the
foot and heel are turned inwards when the child is born.
• It is also commonly known as clubfoot.
• In 50% cases, it is unilateral, and in rest bilateral. The treatment of
CTEV begins soon after the birth of child.
• The deformity is fully correctable, if proper treatment is instituted in
time.
• The treatment can be non-operative by plasters (for supple feet) or
operative (for rigid feet). These children are initially put on serial
casts. Casts are changed every fortnight to further correct the
deformity. Once a foot gets corrected, it is maintained in a special
splint (called Denis Brown splint) or shoe (called CTEV shoe).

101. Cont…
CONSERVATIVE TREATMENT:
• For first 1-2 weeks, plaster is avoided, as the skin of newborn
is too delicate. During this period, the mother is taught gentle
stretching, which she has to perform during each feed.
• She should stretch the soft tissue on the medial side of foot and
posterior aspect of ankle.
• The stretch is sustained for 10 seconds and then relaxed (till
skin of the child's foot just starts to blanch). At the age of 2-3
weeks, treatment by plasters is started.
• Serial plasters are applied till the deformity is corrected. If the
deformity is not corrected/partially corrected, surgery of the
soft tissues is performed.

102. Cont…
Plaster Application:
• The child is laid down supine on a firm mattress at the edge of a
couch and the mother stands at the head end, supporting and
soothing the child.
• The nurse holds the limb. She should try to divert the attention of
child away from plaster application.
• The cast can also be applied, with the child resting in mother's lap.
The CTEV plaster is applied in 90° of knee flexion, so that plaster
does not slip down after application.
• The plaster usually extends from base of toes to the proximal one-
third of the thigh. When the surgeon is applying corrective forces,
the nurse has to apply counter-pressure over the flexed knee with the
help of the palm.

103. Cont…
NURSING CARE OF CAST IN CTEV:
• After plaster application, clean the toes with the help of wet cotton to observe
capillary circulation (indicator of the blood supply of the limbs).
• At the time of discharge, the nurse should explain the following to the parents:
1. Bring back the child immediately, if he cries excessively or the toes get
swollen or if there is any discoloration of the toes.
2. Care of cast-covering it with polyethylene like material to avoid sogging.
3. Cast needs to be changed every 1-2 weeks.
4. Should return early, if cast is cracked or broken or any discharge or foul smell
comes from under the cast.
5. To inspect thigh area for rashes due to upper edge of cast.
Whenever the cast is removed for change, the limb should be washed with soap
and water, dried and some moisturizer applied to the skin, prior to applying the
fresh cast.

104. 2. Congenital dislocation of hips:
• This refers to partial or complete dislocation of the femoral
head from the shallow acetabular cavity.
• The condition, initially called as congenital dislocation of hip,
arises due to a defect in the development of structure of the hip
joint, which becomes dysplastic.
• The hips at birth in DDH are rarely dislocated but rather
'dislocatable'.

106. Cont…
CLINICAL PRESENTATION:
• The condition is usually unilateral and is more commonly seen
in girls born of breech presentation.
• Usually, the condition is asymptomatic and picked up on
routine examination.
• It should also be suspected, if the movement of the affected
lower limb is decreased.
• Thigh is flexed and abduction at the hip is limited.
• After dislocation, the gluteal and thigh folds become
asymmetric.
• The affected leg appears short.

107. Cont…
PHYSICAL EXAMINATION:
A. Barlow's Test: This is the most important test to determine whether
the hip is unstable and can be provocatively dislocated. This test is
also used for screening purposes in newborns as a part of routine
physical examination.
B. Ortolani's Maneuver: This is aimed at reduction or relocation of a
recently dislocated hip. This test is not elicitable in newborns, as
they do not have true dislocation, as described earlier. The test is
best elicited between 1 and 2 months of age when the hip has
actually dislocated rather than being only dislocatable. After 2
months, this test is again not elicitable because femoral head cannot
be relocated due to contractures.
Diagnosis is confirmed by clinical examination, ultrasonography and
MRI of the hip joint.

110. Cont…
Treatment:
1. At Birth (If the hip is reducible)
• Keep the hip in position of flexion and abduction for 1-2 months.
• Various types of harnesses and splints are available to facilitate this
position.
• In addition, double or triple diapers may also be used for first 2-3 weeks.
2. 1-6 Months
Child is placed in a Pavlik's harness and the femoral head is reduced into the
acetabulam.
• This treatment is continued for 3-4 weeks.
• If spontaneous relocation does not occur, attempt close reduction, failing
which, open reduction (surgery) is indicated.
• After reduction, double hip spica is applied.
3. Beyond 6 Months:
• Surgical reduction is the method of choice.

112. 1. DOWN SYNDROME
• Humans have 23 pairs of chromosomes in each cell of the
body. Presence of extragenetic material in chromosome 21
leads to Down syndrome. Estimated incidence of Down
syndrome is 1 in 1000 live births. The incidence of Down
syndrome increases with advancing maternal age.

114. Cont…
CLINICAL FEATURES:
• These babies have typical facial features like upslanting eyes, and
flat facial profile, referred to as Down facies or mongoloid facies,
large space between the big toe and next toe (sandle gap), and a
large tongue.
• Hearing impairment (60-80%), congenital heart defects (40-45%)
and low thyroid hormone levels (hypothyroidism) are commonly
associated.
• There is often a delay in attainment of motor milestones and limbs
feel soft and flabby (hypotonia).
• Children with Down syndrome have mild to severe intellectual
disability.
• These children are also at increased risk for seizures, recurrent chest
infection, immunological disorders, blood cancers (leukemia) and
skin problems.

116. Cont…
DIAGNOSIS:
• Diagnosis is suspected on clinical features and confirmed by analyzing the
number of chromosomes by karyotyping. These children should be
screened for hearing (auditory brainstem evoked response), blood levels of
thyroid hormone, and echocardiography to look for any associated
congenital heart defects.
NURSING MANAGEMENT: The following problems also need to be
addressed.
• Monitoring physical and mental growth, treatment of hypothyroidism, and
management of associated conditions like hearing impairment and
congenital heart defects.
• Potential for infection related to hypotonia, increased susceptibility to
respiratory infections.
• Impaired swallowing related to hypotonia, large tongue, cognitive
impairment.
• Altered family processes related to having a child with Down syndrome.
• Altered growth and development related to impaired cognitive functioning.
• Need for prevention of Down's syndrome.

117. Cont…
Nursing Care for Down Syndrome:
Principles of nursing support are listed
1. Support the family at time of diagnosis
2. Assist the family in preventing physical problems
3. Promote child's developmental progress
4. Assist in prenatal diagnosis and genetic counseling

118. 2. TURNER SYNDROME:
• Turner syndrome results from chromosomal mosaicism (few cells
have 46XX and few have deletion of whole or one part of X
chromosome, 45XO) affecting almost 1 in 2500 female births.
• Antenatal diagnosis can be based on ultrasonography findings of
nuchal translucency, renal anomalies and cystic hygroma.
• Turner syndrome is suspected among girls with delayed puberty or
unexplained growth failure. Newborns with Turner syndrome have
puffy swollen hands, folds in neck, detection of heart defect called
coarctation of aorta.
• Children with Turner syndrome needs to be monitored for growth
(short stature), cardiac problems, renal problems (renal
ultrasonography for renal anomalies) and blood thyroid hormone
levels (hypothyroidism). They should be under regular follow-up of
pediatric endocrinologist and geneticist.

121. FETAL CIRCULATION:
Fetal circulatory physiology is different from normal postnatal
circulation:
• In fetus, lungs are collapsed and the site of oxygenation of blood is
maternal placenta.
• The umbilical veins bring oxygenated maternal blood from placenta.
• From right atrium, it goes across foramen ovale to Oxygenated
blood then passes through ductus venosus and inferior vena cava
(IVC) to right atrium.
• Superior vena cava (SVC) brings deoxygenated blood from upper
half of body to right atrium (RA), right ventricle (RV) and
pulmonary artery (PA).
• Majority of this deoxygenated blood in pulmonary artery goes to
descending aorta, via ductus arteriosus and then to placenta via
umbilical artery for oxygenation.
• Very less amount of blood goes to lungs.

123. Cont…
• Changes at birth:
• After birth, as the umbilical cord is clamped, supply of oxygenated
blood from placenta is abolished.
• First breath of neonate leads to expansion of lungs and blood flow to
lungs increases.
• Oxygenated blood from pulmonary veins comes to left atrium and
goes to aorta.
• Changes which occur in fetal circulation at birth for normal
transition to postnatal circulation are:
Closure of ductus venosus, closure of foramen ovale,
expansion of lungs, and closure of ductus arteriosus.
• After birth, left side of heart is exposed to high pressure systemic
circulation (aorta) and right side of heart is exposed to low pressure
pulmonary circulation (lungs). Hence, pressure in left-sided cardiac
chambers is more compared to that in the right side.

125. 1. Atrial Septal Defect:
• ASD is characterized by an abnormal opening in the septum
between left and right atrium.
It is of two types;
1. Ostium primum (at the base of septum)
2. Ostium secundum (at the site of foramen ovale, in center)
Hemodynamics:
Oxygenated blood is shunted from left atrium (LA) to right
atrium (RA) across the ASD which leads to dilatation of RA,
right ventricle (RV) and pulmonary artery (PA). Lungs are
exposed to more than normal blood volume. Magnitude of shunt
across the ASD depends on the size of defect and relative
pressure difference between systemic and pulmonary circulation.

127. Cont…
Clinical Features:
• Most children are asymptomatic and may remain undiagnosed
till late adulthood.
• Most common symptom is poor weight gain. Some (10%)
children can have symptoms due to pulmonary over
circulation, i.e. fast breathing, feeding difficulties, and
recurrent respiratory infections.
• Generally patients with ASD are thin built with left precordial
bulge and diffuse right ventricular apex.
• Auscultatory hallmark of ASD is wide and fixed splitting
second heart sound (S2). An ejection systolic murmur can be
heard in pulmonary area (left upper parasternal border).

128. Cont…
Investigation:
• Chest X-ray reveals dilated right atrium and right ventricle.
• Main pulmonary artery dilatation is seen as fullness at
pulmonary bay area.
• Lung vascular markings are increased.
• ECG is suggestive of right ventricular hypertrophy and right
axis deviation. Echocardiogram shows the type of defect.
Treatment:
• Most of the atrial septal defects (≤5 mm) close by themselves
in early childhood. Large ASD (>6 mm) is treated by open
heart surgery and patch closure of defect. Small defects can be
closed by less invasive means using device.

129. 2. VENTRICULAR
SEPTAL DEFECT (VSD)
• VSDs are the commonest congenital heart defects. These are
characterized by a defect in the interventricular septum,
leading to a communication between left and right ventricle.
Depending upon the location of defect in septum, VSDs can be
of various types, viz. muscular VSD, membranous VSD.
Hemodynamics:
• There is shunting of oxygenated blood from left ventricle (LV)
to RV across the VSD, which leads to increased blood flow to
lungs and dilatation of pulmonary artery

131. Cont…
Clinical Features:
• Symptoms characteristically appear around 4-6 weeks of age when
pulmonary vascular resistance falls.
• Children having non-restrictive defect are symptomatic with failure to
thrive, fast breathing, feeding difficulties (interrupted feeds, suck-rest-suck
cycle, forehead sweating), and recurrent respiratory infections.
• Children with restrictive defect are usually asymptomatic and are
incidentally detected to have cardiac murmur when clinically evaluated for
unrelated illness.
Examination:
• Generally, children with restrictive VSD are adequately nourished; those
with non-restrictive shunts are malnourished. There is left precordial bulge
and hyperdynamic left ventricular apex. Systolic thrill can be palpated at
left lower sternal border. Auscultation reveals a pansystolic murmur with
thrill at left sternal border, radiating widely to entire precordium.

132. Cont…
Investigations:
• Chest X-ray: Cardiomegaly is seen.
• ECG It shows biventricular hypertrophy or may be normal.
• Echocardiogram Color Doppler can confirm the direction of blood flow
and identify associated anomalies of tricuspid valve, aortic root and aorta.
Treatment:
• Almost 80% of restrictive VSDs close spontaneously by 4 yrs of age.
Membranous defects are more likely to close compared to muscular
defects. Small defects can be closed by less invasive means using device.
• Medical management includes diuretics to reduce preload, decongestive
therapy, iron supplementation to prevent anemia, antibiotics for respiratory
infection treatment, and high calorie energy dense feeds for adequate
nutrition.
• Large VSD that does not close by itself is treated by open heart surgery and
patch closure of defect.

133. 3. PATENT DUCTUS ARTERIOSUS
(PDA):
• Ductus arteriosus is an essential feature circulatory physiology
which serves to shunt deoxygenated blood from pulmonary artery to
aorta and then to placenta for oxygenation. After birth, function of
oxygenation is taken over by lungs and ductus arteriosus closes. If it
does not close, the condition is called as patent ductus arteriosus,
which is a vascular channel between the aorta and pulmonary artery.
Hemodynamics:
• There is shunting of oxygenated blood from aorta to pulmonary
artery across PDA. This leads to dilatation pulmonary artery, LA and
LV. Lungs are exposed to more than normal blood volume.
Magnitude of shunt across PDA depends on the size of ductus and
relative difference between systemic and pulmonary pressure
circulations

135. Cont…
Clinical Features:
• Most children with small PDA are asymptomatic and may remain
undiagnosed till late adulthood and are incidentally detected to have
cardiac murmur when clinically evaluated for unrelated illness.
Children with large PDA are symptomatic with failure to thrive, fast
breathing, feeding difficulties (interrupted feeds, suckrest-suck
cycle, sweating), and recurrent respiratory infections.
Examination:
• Children with large PDA are malnourished, have bounding pulses.
There is left precordial bulge and hyperdynamic left ventricular
apex. Auscultatory hallmark of PDA is continuous machinery
murmur at left upper parasternal area. Thrill may be palpated.

136. Cont…
Investigations:
• Chest X-ray: Cardiomegaly and left ventricle enlargement.
Aorta is prominent and lung vascular markings are increased.
• ECG: Left ventricular hypertrophy.
• Echocardiogram: Size of PDA can be measured. Color
Doppler shows direction of shunt.
Treatment:
• Medical management of large PDA includes diuretics to
reduce preload, iron supplementation to prevent anemia,
antibiotics for respiratory infection, decongestive therapy, and
high calorie energy dense feeds for adequate nutrition.

137. 4. TETRALOGY OF FALLOT
• Tetralogy of Fallot is the commonest cyanotic CHD, and consists of
4 components:
a. Right ventricular outflow obstruction (valvar and infundibular
pulmonary stenosis)
b. Right ventricular hypertrophy
c. Ventricular septal defect.
d. Over-riding of aorta
Hemodynamics:
• Pulmonary valve stenosis leads to obstruction to blood flow from
right ventricle to pulmonary artery, as a result, the right ventricular
pressure rises and RV becomes hypertrophied. Higher pressure in
RV results in shunting of deoxygenated blood from right ventricle to
left ventricle through the ventricular septal defect and into the aorta
(there is over-riding of aorta)

140. Cont…
Clinical Manifestation:
• Most significant feature is CYANOSIS.
• Clubbing of fingers and toes occur at 1-2 years of age.
• Exercises causes DYSPNOEA. [SQUATTING POSITION]
• TETT SPELLS
• Delayed Growth and Development.
• Harsh systolic murmor on the left sternal border.
• Boot shaped heart.

141. Cont…
DIAGNOSTIC EVALUATION:
• Physical examination
• Cardiac examination
• Echocardiogrphy
• Cardiac cathterization
THERAPEUTIC MANAGEMENT
• Knee chest position
• Propanolol 1mg/kg upto 4 times in a day reduces pulmonary and
valve spasm.
• Intravenous prostaglandin E1 therapy increases pulmonary blood
flow and improving arterial blood oxygenation.
SURGICAL MANAGEMENT:
• PALLIATIVE SURGERY.
• CORRECTIVE SURGERY.

142. Cont…
• Palliative surgery involves creating an artificial
communication between branches of aorta and branches of
pulmonary artery, so that blood flow to lungs improves and
oxygenation improves. Blalock-Taussig shunt is the most
commonly performed palliative surgery. In this, a
communication is created between sub clavian artery and right
pulmonary artery.
• Definitive surgery involves patch closure of VSD, and relief of
pulmonary obstruction by excising infundibular septum.

143. 5. Transposition of the great
arteries (TGA)
• It is a type of heart defect that your baby is born with (congenital).
In this condition, the two arteries that carry blood from the heart to
the lungs and body aren’t connected as they should be. They are
reversed (transposed).
In TGA, the following occurs:
• The aorta is connected to the right ventricle. It should normally be
connected to the left ventricle.
• The pulmonary artery is connected to the left ventricle when it
should normally be connected to the right ventricle.
This means that:
• Oxygen-poor (blue) blood is sent to the body instead of to the lungs.
• Oxygen-rich (red) blood returns to the lungs instead of going to the
body.

144. Cont…
• Most babies with TGA have blue skin color (cyanosis) in the
first hours or days of their lives.
• Other symptoms that can occur include:
• Fast breathing
• Trouble breathing
• Fast heart rate
• Poor feeding
• The symptoms of TGA may be similar to symptoms of other
conditions. Make sure that your child sees his or her health
care provider for a diagnosis.

145. Cont…
Diagnosis:
• Pulse oximetry
• Chest X-ray
• Electrocardiogram (ECG)
• Echocardiogram (echo)
• Cardiac catheterization (cardiac or heart cath)
Treatment:
• Cardiac catheterization: Your child may have a test called a
balloon atrial septostomy. This is done during cardiac
catheterization. This test makes it easier for oxygen-rich blood to
reach the rest of the body by creating or enlarging an atrial septal
defect which allows oxygen-rich blood and oxygen-poor blood to
mix.

146. Cont…
Medical management:
• At first, your baby may get the following care:
• Supplemental oxygen or a ventilator. This is a machine that helps do
the work of breathing for the baby.
• Different types of medicine given by IV. This will help your baby’s
heart and lungs work better.
• A medicine called prostaglandin E1. This is used to keep the ductus
arteriosus open. This allows blood to flow through the heart until
surgery can be done.
Surgery:
• Typically, in the first few weeks of life, your baby will need surgery
for TGA. This procedure is called an arterial switch. Your child’s
surgeon will connect the aorta and pulmonary artery to their normal
ventricles. The surgeon will also have to move the coronary arteries.
The surgeon will also fix any other heart problems, such as a VSD.

147. Cont…
Complications of untreated TGA include:
• Heart valve problems
• Heart muscle problems or problems with the arteries that
supply blood to the heart muscle
• Abnormal heart rhythm
• Heart failure
• Lung problems
• Death

148. 6. TAPVC:
• Total anomalous pulmonary venous connection (TAPVC) is a rare
heart defect.
• In a normal heart, the blood flows in from the body to the right
atrium. It then goes into the right ventricle through the tricuspid
valve. The blood travels to the lungs through the pulmonary valve to
pick up fresh oxygen. Next, the blood returns to the left atrium, goes
into the left ventricle, and goes out to the rest of the body.
• With TAPVC, the pulmonary veins that return oxygen rich blood
from the lungs connect to the right side of the heart instead of the
left atrium. This leads to the mixing of oxygenated and de-
oxygenated blood. The body tissue does not get as much oxygen as
it is supposed to. TAPVC can be mild to severe. There can be a
range of connection problems. Other heart problems may also be
present.

151. Cont…
Causes:
• TAPVC is caused by a congenital defect. This means that the
problem develops in the womb and a baby is born with it. It is
not known exactly why this happens.
Risk Factors:
• The risk factors are not well known. Things that may play a
role are:
• A family history of heart defects
• Having other heart defects
• Environmental exposures

152. Cont…
Symptoms:
• Problems may be:
• Blue or pale grayish skin color
• Trouble breathing
• Poor growth
Diagnosis:
• The doctor will ask about your child’s symptoms and health history.
A physical exam will be done. It will focus on the heart. An irregular
heart rate may be detected.
• Blood tests will be done.
• Images may be taken of your child's body. This can be done with:
1. Echocardiogram
2. Chest x-ray

153. Cont…
• Your child's heart function may be tested. This can be done
with:
1. Electrocardiogram
2. Cardiac catheterization
Treatment
• Surgery is needed to correct the defect. The goal of surgery is
to reconnect the pulmonary veins to the left atrium.
• TAPVR surgery is open heart surgery done to fix this problem.
• Lifelong heart monitoring will also be needed.

154. 7. Coactation of the aorta (COA)
Definition:
• Coactation of the aorta (COA) is a heart defect that is present
at birth (congenital). It means the aorta is narrower than it
should be. The aorta is the large artery that carries oxygen-rich
blood from the left ventricle to the body. This narrowing
means that less oxygen-rich blood is sent to the body.
Causes:
The cause of coarctation of the aorta is unclear. The condition
is generally a heart problem present at birth (congenital heart
defect). Rarely, coarctation of the aorta develops later in life

156. Cont…
Signs and Symptoms:
• These are the most common symptoms of coarctation of the aorta:
• Grouchiness
• Pale skin
• Sweating
• Heavy or fast breathing
• Enlarged liver (hepatomegaly)
• Poor feeding or eating
• Poor weight gain
• Cold feet or legs
• Weak pulses in the feet, or no pulses in the feet
• Blood pressure in the arms that is much higher than the blood pressure in
the legs
• Chest pain
• Pain in lower legs with walking (claudication)

157. Cont…
Diagnosis:
• Chest X-ray. A chest X-ray may show an enlarged heart or other changes
caused by COA.
• Electrocardiogram (ECG). An ECG records the electrical activity of the
heart. It can find abnormal rhythms (arrhythmias) and heart muscle
damage.
• Echocardiogram. This uses sound waves to make a moving picture of the
heart and heart valves. Most aortic coarctations are diagnosed by
echocardiography.
• Cardiac catheterization. A thin, flexible tube (catheter) is moved through
the blood vessels into the heart. Dye is used to get a clear picture of the
heart and aorta. A catheterization may also be used to treat the narrowing.
• CT scan. This can make detailed pictures of the aorta and show the area of
narrowing.
• MRI. This makes detailed pictures of the heart and aorta. It can clearly
show where the narrowing is and how large it is.

158. Cont…
Treatment:
Treatment will depend on your child’s symptoms, age, and general
health. It will also depend on how severe the condition is.
• COA is treated by fixing the narrowed vessel. It may be fixed by:
1. Cardiac catheterization. During the procedure, your child is given
medicine to help him or her relax (sedation).
• The healthcare provider puts a catheter through a blood vessel to the
narrowed part of the aorta.
• A balloon at the tip of the catheter is inflated to stretch the area
open.
• The provider may put a small metal mesh tube (stent) in the
narrowed area to keep the aorta open.
• Your child will usually need to stay overnight in the hospital.

159. Cont…
Surgery:
• Your child will be given sleep medicine (general anesthesia).
• The surgeon will make a cut (incision) into your child's chest.
• The location of the incision will depend on the extent of
narrowing of the aorta.
• It will also depend on if there are other defects that need to be
fixed during the same surgery.
• The surgeon will cut out the narrowed area or make it larger
and connect the 2 ends of the aorta together.
• In some cases, the surgeon will have to use other nearby tissue
or patch material to make the aorta longer.