congenital anamolies

1. INTRODUCTION:-
Congenital abnormalities are those defects and diseases which
are substantially determined before or during birth and
recognizable in early life. Some disorders are detected at birth
e.g. cleft lip and cleft palate. Some are obvious in early life like
congenital dislocation of hip which is detected until walking
commence and some may become apparent until much later in
life e.g. patent ductus arteriosus, which is diagnosed usually in
school age or even later. Some disorder may unrecognized.
Some defects are classified as major which
may require surgical intervention ; either as emergency or as an
elective . Some are classified as minor that have no functional
implications like skin tags in front of the ear.

2. DEFINATIONS:-
The congenital anomaly is any alteration, present at
birth of normal anatomic structure.
According to wolters kluwer.
Congenital anomaly include all biochemical structural
and functional disorders present at birth.
According to who

10. Maternal infections
• TORCHES (Toxoplasmosis, Rubella,
Cytomegalovirus, Herpes, Syphillis)
• Varicella • HIV

11. SOCIOECONOMIC FACTORS
•congenital anomalies are more frequent among
resource constrained families and countries.
•It is estimated that about 94% of severe birth defects
occur in middle- and low-resource countries, where
mothers are more susceptible to macronutrient and
micronutrient malnutrition and may have increased
exposure to agents or factors that induce or increase
the incidence of abnormal prenatal development,
particularly infection and alcohol.
•Advanced maternal age also increases the risk of
some chromosomal abnormalities including Down
syndrome.

12. MATERNAL NUTRITIONAL STATUS
Iodine deficiency
folate insufficiency
Obesity
diabetes mellitus

16. CENTRAL
NERVOUS SYSTEM
:-Congenital abnormalities
of the CNS are birth
defects of the physical
structure of the brain or
spinal cord that occur
during fetal intrauterine
growth.
Neural Tube Defect
•Anencephaly
•Microcephaly
•Megalencephaly
•Septo-Optic
Dysplasia
•Diastomatomyelia
•Polymycrogyria
•Encephalocele
•Spina bifida
Hydrocephalous

17. Neural tube defects (NTD) are one of the most
common congenital anomalies due to failure of proper
closure of neural tube and covering mesoderm and
ectoderm during early embryogenesis between 3rd and
4th week of intrauterine life. It involves the defect in the
skull, vertebral column, the spinal cord and other
portion of CNS.

18. ANENCEPHALY
Anencephaly is a cephalic disorder that
results from a neural tube defect that
occur when the cephalic end of the neural
tube fails to close, usually between 23rd
and 26th day of pregnancy, resulting in
the absence of a major portion of brain,
skull, and scalp.

19. Anencephaly is the absence of a major
portion of the brain, skull, and scalp that
occurs during embryonic development

20. RISK FACTOR :-
diabetes mellitus
obesity
exposure to high heat (such as a fever or use of a
hot tub ) in early pregnancy
use of certain anti-seizure medications during
pregnancy
CAUSES :-
Interaction of multiple genetic and
environmental factors.

21. SYMPTOMS:
•Absence of the skull
•Absence of the brain ( cerebral
hemisphere and cerebellum)
•Facial features abnormalities.
•Cleft palate
•Congenital heart defects.

22. Diagnostic Evaluations:-
•Pregnancy Ultrasound
•Amniocentesis
•Alpha- fetoprotein level.
•urine estriol level
•Pre-Pregnancy serum folic acid
test.

23. Management: -
•There is no treatment for anencephaly.
•Treatment is support.
•Folic acid can help reduce the risk of certain birth
defects.
•It is important for women who became pregnant to
get enough folic acid.
•Multivitamin with folic acid should be taken every
day by pregnant women's or women's planning for
pregnancy.
•Getting enough folic acid can reduce the chance of
neural tube defects by 50%.

24. MICROCEPHALY:-
The term MICROCEPHALY means small head .
Microcephaly is a rare neurological condition in which
an infant has a significantly smaller than normal head
size because the brain has not developed properly or
has stopped growing.

25. may be genetic Craniosynostosis
Chromosomal
abnormalities
Decreased oxygen
to the fetal brain
(cerebral anoxia
Infections passed
to the fetus during
pregnancy
Exposure to drugs,
alcohol or certain
toxic chemicals in
the womb
Uncontrolled
phenylketonuria
Severe
malnutrition

26. baby’s head
is very small
Mental
retardation
Delayed
motor
function and
speech
Increased
movement
of arms and
legs
Facial
distortion
Hyperactivity
Seizures
Difficulty
with
coordination
and balance
Other brain
and
neurological
abnormalities
.
Poor feeding
developmen
tal delays
Intellectual
disabilities.

27. DIAGNOSTIC FINDING :-
•Birth and family history
•Physical exam
•Prenatal ultrasound
•Head CT or MRI
•Blood and Urine test.

28. Management: -
•There is no treatment that will enlarge Childs head or
reverse complications.
•Treatment is symptomatic and supportive.
•Treatment focuses on ways to manage child
condition.
•Physical, speech, and occupational therapist helps to
maximize abilities and minimize dysfunction.
• Medications also used to control seizures,
hyperactivity and neuromuscular symptoms.
•Genetic counseling may help families understand the
risk for microcephaly in subsequent pregnancies

29. MEGALENCEPHALY:-
Megalencephal also called macrencephaly is a
condition in which there is abnormally large heavy and
usually malfunctioning brain. the brain weight is
greater than the average for the age and gender of the
individual. it may be visible at birth or the head may
become abnormally large in early years of life.

30. Causes: -
Genetic factors
• megalencephaly may occur as an autosomal
dominanat(more common) or autosomal
reccessive condition.
•Sotos syndrome( overgrowth syndrome)
non- Genetic Factors:
• transient disorder of cerebro spinal fluid.
• also it can be idiopathic.

31. CLINICAL
MANIFESTATION
developmental
delays
seizures
convulsive
disorder
an abnormal brain
cortex and spinal
cord
Mental
retardation is
common with
megalencephaly.
some neurological
symptoms:
delay of motor
milestone such as
holding up head,
rolling over.
Speech delay
Poor muscle tone
Body asymmetry
Paralysis of more
or both sides of
body.
Poor coordination
Involuntary
movements
Visual
disturbances

32. DIAGNOSTIC
EVALUATION
Medical
history or
family History
physical exam
and
developmenta
l and
neurological
exam.
CT scan or MRI
Laboratory
testing for
Genetic or
Chromosomal
Disorders.

33. Management: -
•There is no specific cure for megelencephaly;
•routine Health care Maintenance including
Periodic Head Measurements for Patients with
neurological or Physical problems
• anti-epileptic drugs for seizures.
•Treatment of medical complications
•Rehabilitation for neurological problems such
as speech delay poor muscle tone.

34. Septo-optic dysplasia (SOD) is a rare disorder
characterized by abnormal development of the
optic disk, pituitary deficiencies, and often agenesis
(absence) of the septum pellucidum (the part of
the brain that separates the anterior horns or the
lateral ventricles of the brain)
Diastematomyelia is a congenital disorder in
which a part of the spinal cord is split, usually at
the level of the upper lumbar vertebra.
Diastematomyelia is a rare congenital anomaly that
results in the "splitting" of the spinal cord in a
longitudinal (sagittal) direction.

35. Polymicrogyria is a condition characterized by
abnormal development of the brain before birth. The
surface of the brain normally has many ridges or folds,
called gyri. In people with polymicrogyria, the brain
develops too many folds, and the folds are unusually
small.
Encephalocele is a sac-like protrusion
or projection of the brain and the
membranes that cover it through an
opening in the skull. Encephalocele
happens when the neural tube does not close
completely during pregnancy

36. SPINA BIFIDA :-
Spina bifida is a neural tube defect caused
by the failure of the fetus spine to close
properly during the first month of
pregnancy.

37. Cause and risk factors:-
• Folic acid deficiency
•Previous pregnancy with neural tube
defects
•Family history
•Use of anti-seizure medication
•Diabetes •Obesity
•High temperature in early pregnancy
•Excessive use of alcohol.

38. Clinical Manifestation:-
•Depression
•Birthmarks
•Hairy patch over the affected area
•Abnormal tuft of hair
•Loss of bladder or bowel control
•Partial or complete lack of sensation
•Weakness of legs hip feet of newborn
•Buildup of fluid inside the skull
•Hair at the back part of pelvis
•Learning disabilities.

39. •TYPES :-
•Spina Bifida Occulta
•Closed Neural tube defects
•Spina Bifida Manifesta
•Spina bifida Meningocele
Myelomeningocele

40. Spina bifida occulta:-
•it is one of the most common
form in which one or more
vertebrae are malformed.
•Occulta means hidden indicates
that the malformation or opening
is covered by layer of skin.
•Symptoms: bladder and bowel
problems or scoliosis, dimple,
hairy patch, dark spot or swelling
over affected area
•spinal cords and nerves usually
normal

41. Closed Neural tube defect:
•It is the second type of spina bifida in which the
spinal cord is marked by a malformation of fat, bone
or membranes in the spinal column
•symptoms :- urinary or bowel dysfunction.
Spina bifida manifesta/cystica:
It is associated with nerve damage that can result in
problem like walking, bladder control, and
coordination. This refers to the visible defect with the
external saclike protrusion

42. 1.SpinaBifida meningocele:-
•Is a rarest form of which a cyst
or fluid-filled sac pokes through
an open part of the spine.
•The sac contains membranes
that protect spinal cord but not
spinal nerves i.e. there is no
neural elements but only CSF
and meninges.
•The membranes can be usually
removed during surgery.

43. •symptoms: symptoms are similar to
closed neural tube defect, the nervous
system is undamaged but may have other
problems like bladder and bowel problems

44. 1.Myelomeningocele:-
•It is the most serious type of spina
bifida.
•The cyst holds both membranes and
nerve roots of spinal cord and often the
cord
•The spinal cord remains open along
several vertebrae resulting in partial or
complete paralysis of the parts of the
body below the spinal opening.
•The membrane and spinal cord create a
sac in the baby's back. The sac is
covered with meninges although it
remains open leaving it vulnerable to
infection leading to fatal.

47. Diagnostic Evaluation:-
•Quadruple screen
•Maternal serum alpha fetoprotein
test (MSAFP)
•Neurologic Examination
•X-ray, Ultrasound, MRI.

48. Management:-
•Treatment depends on the type and severity of disorder.
•Surgery is usually helpful to close the spinal gap and
prevent infection.
•The surgery involves putting the meninges back in place
and closing the opening in the vertebrae. The surgery is
done within 24–48 hours after birth. There is also a surgery
to treat hydrocephalus by placing a shunt
•Fetal surgery is also done to promote early surgical
closure of the spina bifida
•Physical therapies, crutches and braces may be necessary
to help problems resulting from nerve damage.

49. •if infant has hydrocephalus ventricular
peritoneal shunt can help drain any extra fluid
from the head.
•Catheter should be put to help regulate bladder
function.
•Pharmacologic Management:
•Antibiotics to prevent infections like
meningitis.
•Folic acid supplement to pregnant women
•Oxybutynin to prevent incontinence
•Physical therapy is also one of methodic
prevent muscles from weakening.

50. Nursing Management
Pre-Op
Position the child in prone with legs abducted. This
reduces tension and risk of sac trauma.
Put the child in an incubator or warmer area without
clothes. This maintains normal body temperature,and
reduces trauma from the clothes.
Apply dressing (moist, no adhesions), to avoid drying of
the area due to heat in the incubator.
Strictly use the sterile gauze so as to prevent re-
infection.
Change dressing two-four hourly, to avoid drying.
Use normal saline or silver nitrate in dressing.

51. Gentle handling of the child to avoid any risk of
trauma.
Change the child’s position every two hours, to promote
circulation and prevent development of decubitus sore.
Check vital signs and signs of increased intracranial
pressure.
Assess for signs of hydrocephalus.
Cover the sacrum with sterile surgical drape, but not
latex tape.
Measure the head circumference
Prepare the mother psychologically.
Apply gentle pressure to suprapubic area to facilitate
urine emptying.
Gently do a range of motion of the extremities to the
child.

52. Post-Op
Position the child in prone to avoid pressure on
suture, or side lying position alternatively.
Monitor the child`s vital signs every 30 minutes
until stable.
Use all measures to avoid any infection e. g. hand
washing.
Monitor input and output.
Encourage the mother to continue breastfeeding if
the child is being breastfed.
Resume the feeding after the effects of anaesthesia.
Remove the dressings after 48hrs to check any signs
of bleeding or bulging

53. Psychologically, care the mother.
Observe for leakage.
Maintain passive range of motion of the
extremities to promote circulation.
Give high fibre diet to the child (if above
6 months), to avoid constipation,
To alley anxiety, counsel the mother on
the condition of the child.
Teach the parents to observe for signs of
complications e. g. convulsions.
Teach on the care of the child.

54. Complications
Meningitis
Hydrocephalus
Physical and neurological problems

55. HYDOCEPHALOUS :-
The term hydrocephalus is derived from two words: "hydro"
meaning water, and "cephalus" referring to the head.
Hydrocephalus is a condition in which excess cerebrospinal
fluid (CSF) builds up within the ventricles (fluid-containing
cavities) of the brain and may increase pressure within the
head.

56. Hydrocephalus is the abnormal accumulation of
cerebro spinal fluid (CSF) in the intracranial spaces.
It occurs due to imbalance between production or
absorption of CSF or due to obstruction of the CSF
pathways. it result in the dilatation of the cerebral
ventricals and enlargement of head.
20 ml - hour
500ml/day
Total volume - 100 ml
Pressure: 70 to 180 mm H2O.

57. COMMUNICATING HYDROCEPHALUS
Communicating hydrocephalus is a condition
that results when the arachnoid villi are unable
to adequately reabsorb CSF.
Intraventricular or subarachnoid hemorrhage
Infectious processes such as meningitis may
also render the arachnoid villi to be nonfunction.
May also be due to the overproduction of CSF.
This is rare and is usually associated with a
choroid plexus papilloma or a choroid plexus
carcinoma.

58. NON- COMMUNICATING HYDROCEPHALUS
Noncommunicating hydrocephalus is a condition that
results when the ventricular system does not
communicate with the arachnoid villi due to some
obstruction in the normal pathways of CSF flow.
Consequently, CSF is produced in the ventricular system
but cannot flow to the arachnoid villa to be reabsorbed.
Such obstruction can occur when pathways are
blocked by a tumor, congenital abnormalities of the
brain, cysts, inflammation from infection, or any other
condition that interferes with the patency of these
pathways.

59. CAUSES
Congenital hydrocephalus
Intrauterine infections:
Congenital malformations:
•Aqueduct stenosis
•Dandy-Walker syndrome
•Arnold-Chiari syndrome
•Midline tumors obstructing CSF flow

60. Acquired hydrocephalus
Tuberculosis
chronic and pyogenic meningitis
Post-intraventricular hemorrhage
Posterior fossa tumors
Arteriovenous malformation,
intracranial hemorrhage
ruptured aneurysm

61. SIGN AND SYMPTOMS
•Abnormal enlargement of baby's
head
•Delayed closure of anterior
fontanel
•Tense and bulging fontanel with
open sutures
•Delayed in head holding of the
infant
•Shiny scalp with prominent scalp
vein
•Eyebrows and eyelids drawn
upwards exposing the sclera above
the iris (sun set sign)
•Cracked-pot sign ( macewen’s) by
percussion of head

62. •Nausea
•Vomiting
•Fever
•blurred or double vision
•unstable balance
•irritability
•sleepiness
•delayed progress in walking or talking
•poor coordination
•change in personality
•inability to concentrate
•loss of sensory motor functions
•seizures
•poor appetite.

63. MEDICAL MANAGEMENT :-
Acetazolamide (diamox) :-
25-100 mg/kg/day to reduce
CSF production in slow
progressive hydrocephalus.
Oral glycerol and isosorbide.

64. SURGICAL MANAGEMEN
Involves creating a hole (stoma) within a cerebral
ventricle for drainage It is done by surgically
penetrating the skull, dura mater, and brain such that
the ventricle of the brain is accessed.

65. SHUNT
A shunt is a hollow tube surgically placed in
the brain (or occasionally in the spine) to
help drain cerebrospinal fluid and redirect it
to another location in the body where it can
be reabsorbed.
Extracranial shunt :- The problem area may
be treated directly (by removing or bypass the
cause of CSF obstruction)

66. Intracranial shunt :- indirectly
(by diverting the fluid to
somewhere else; typically to
another body cavity). Indirect
treatment is performed by
implanting a device known as a
shunt to divert the excess CSF
away from the brain. The body
cavity in which the CSF is diverted
is usually the peritoneal cavity (the
area surrounding the abdominal
organs venticuloperitonial shunt V-
P shunt). Othersare ventriculoatrial
shunt, ventriculopleural shunt or
ventriculogallbladder shunt.

67. Nursing interventions for the newborn
with hydrocephalus include:
Preventing injury. ...
Promoting skin integrity. ...
Preventing infection. ...
Promoting growth and development. ...
Reducing family anxiety. ...
Providing family teaching.

68. Respiratory system abnormalities :-
It includes:-
•Tracheoesophageal fistula
•Congenital atelectasis
•Pulmonary agenesis
•Congenital stridor
•Congenital cyanosis etc

69. TRACHEOEOSPHAGEAL
FISTULA :-
A tracheoesophageal
fistula (TEF or TOF) is an
abnormal connection
(fistula) between the
esophagus and the trachea.
TEF is a common congenital
abnormality, but when
occurring late in life is
usually the sequela of
surgical procedures such as
a laryngectomy.

70. Type A/I • Proximal and distal segment of oesophagus are blunt.
• There is no connection to trachea
• Account for approximately 7% of cases.
Type B/II • Proximal segment of oesophagus open into trachea by a
fistula.
• Distal segment is blunt
• Rare 0.8 % of cases.
Type C/III • Proximal segment of oesophagus has blunt end
• Distal segment of oesophagus connect into trachea by a
fistula
• Most common with 86% of cases
Type
D/IV
• Oesophagus atresia with fistula between proximal end
distal end of trachea and oesophagus.
• Rare 0.7% of cases.
Type
E/V
• Proximal and distal segment of oesophagus open into
trachea by a fistula no oesophageal atresia but sometime
refer to as an H type fistula, occurs in 4.2% of cases.

71. Etiology :-
•Congenital TEF can arise due to failed
fusion of the tracheoesophageal ridges
after the fourth week of embryological
development.
•TEF can also occur due to pressure
necrosis by a tracheostomy tube in
opposition to a nasogastric
Tube

72. Clinical manifestation :-
Three Cs of TEF: -
*Coughing
*Chocking
*Cynosis
Excessive secretion:-
•continue drooling
•large amount of secretion from nose
•saliva or formula accumulates in upper
osophageal pouch and is aspirated into
airway.

73. Intermittent, unexplained Cynosis and
laryngospasm :-
•Caused by aspiration of accumulated saliva in
blunt pouch
•Gastric acid is regurgitated through distal
fistula.
Abdominal distention :-
Occurs as a result of entering the lower
oesophagus through the fistula a passing into
the stomach specially when the child is crying.

74. Violent response after first/second swallows of
feeding:-
Infant coughs and chocking
Fluid returns through nose and mouth.
Cynosis occur
Infant struggle.
Poor feeding:-
•Inability to pass catheter through nose or mouth into
stomach, tip of catheter stops at blunt pouch, or
atresia.
•Infant can be premature, and pregnancy
complicated by polyhydrominous.

75. DIAGNOSIS
•TEF should be suspected once the baby fails to
swallow after his first feeding during the first day of
his life.
•Esophageal atresia can be diagnosed by Ryle
nasogatric tube if the Ryle fails to pass into the
stomach, then this indicates esophageal atresia and
loss of communication between stomach and
esophagus.
•TEF may be diagnosed by MRI which clarifies the
atresic esophagus (if presents) and TEF, as well as its
location and anatomy.
•Gastrographin contrast swallow should not be used if
TEF is suspected, due to its high risk of allergy and
severe intractable chest infection.

76. Management :-
Immediate treatment :-
•Propping infant at 30 degree angle, supine, or side lying, to
prevent reflux of gastric contents.
•Nasogastric (NG) tube remains in the oesophagus and is
aspirated frequently to prevent aspiration until continuous
low suction is applied.
•Pouch is washed out with normal saline to prevent thick
mucus from blocking the tube.
•Gastrostomy to decompress stomach and prevent aspiration,
later used for feeding.
•NBM ; I.V. fluids.
•Supportive therapy includes meeting nutritional requirement,
I.V. fluids, antibiotics, respiratory support, and maintaining
thermally neutral environment.

77. Surgery :-
It is surgically corrected, with resection of any fistula
and anastomosis of any discontinuous segments

78. Complications
Surgical repair can sometimes result in
complications, including:
•Stricture, due to gastric acid erosion of the
shortened esophagus
•Leak of contents at the point of anastomosis
•Recurrence of fistula
•Gastro-esophageal reflux disease
•Dysphagia
•Asthma-like symptoms, such as persistent
coughing/wheezing
•Recurrent chest infections
•Tracheomalacia