COMMON CONGENITAL
MALFORMATION OF
NEONATE
By: Yonas A(BSc, MSc.)
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OUTLINE
Introduction
Esophageal atresia and tracheoesophageal fistula
Abdominal wall defects
Omphalocele
Gastroschisis
Diaphragmatic hernia
Cleft lip/palate
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What is congenital malformation?
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INTRODUCTION
A congenital malformation is any defect in form, structure or
function
They may be detected on examination of the newborn or
histological structures
Many congenital abnormalities are compatible with
intrauterine life
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EPIDEMIOLOGY OF CA
Prevalence of congenital anomalies in Ethiopia was 2%( Mogess
WN,2024).
Prevalence of major congenital anomalies are higher in still
birth(15-20%)
Termination of congenital anomalies raised with prenatal
ultrasound from23%,1985 to 47% in 2000
In Ethiopia about 60% interest in termination of pregnancy due
to congenital anomaly (Brooks;2019)
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CONT….
Incidence of major malformation in
human
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ESOPHAGEAL ATRESIA(EA) and
TRACHEOESOPHAGEAL FISTULA(TEF)#1
EA is a condition in which the proximal and distal portions of
the esophagus do not communicate
TEF is a congenital or acquired communication between the
trachea and esophagus
EA is the most common congenital anomaly of the esophagus
(≈1/4,000 neonates)
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EA and TEF#2
More than 90% of newborns with EA have an associated TEF
Infants with birth weighing <1,500 g and those with severe
associated cardiac anomalies have the highest risk for
mortality
50% of the cases are associated with anomalies, like VACTERL
(vertebral, anorectal, cardiac, tracheal, esophageal, renal,
radial, limb) syndrome
common
Thecongenital
VACTERL malformation syndrome exists when three or more of11/26/2024
the 8
• CAUSE
-Envonmental
factor
-Genetic factors
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Figure: Types EA & TEF With Their Relative Frequencies
In the above picture all are neonatal emergencies except TEF without atresia
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RISK FACTORS
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EA and TEF Clinical features
Excessive secretion at the mouth and nose after birth
(Drooling)
Respiratory distress
Episodes of coughing
Cyanosis
These conditions are exacerbated by feeding
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EA and TEF antenatal Diagnosis
History of maternal polyhydramnios
Ultrasound finding of
Dilated oesophagus a small stomach on the foetus
Absence of fetal stomach bubble
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EA and TEF postnatal diagnosis
Antenatal suggestive finding
Infant who has drooling of saliva, choking and coughing with feeding
Difficulty to pass naso- or orogastric tube to the stomach (blocked 10-11
cm from the lips)
Chest x- ray with NG tube in situ
Coiled tube in the esophageal pouch
Absence of stomach gas suggests oesophageal atresia with no distal fistula
Gas in the stomach suggests distal TEF
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EA and TEF Management#1
Maintain patent airway with frequent suctioning and positioning
Keep the newborn NPO and put it on maintenance fluid
Keep the newborn in prone position to minimize aspiration
N.B. Head of the bed should be elevated 30 degrees to diminish
reflux of gastric contents into the fistula and aspiration of oral
secretions that may accumulate in the proximal esophageal pouch
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EA and TEF Management#2
If possible, CPAP and mechanical ventilation of these babies
should be avoided until the fistula is controlled
Exclude associated anomalies
Arrange transportation and referral/consult for surgical
management
N.B. For suspected cases of EA & TEF avoid feeding before
excluding the diagnosis by inserting NG tube
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QUIZ
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QUIZ #1
1. What is congenital malformation?
2. Which of the following is true about Esophageal atresia ?
A. Absence of esophagus
B. Communication between esophagus and trachea
C. Absence of communication between proximal and distal portions of the
esophagus
D. Presence of communication between proximal and distal portions of the
esophagus
3. Which of the following should be avoided in babies with EA and TEF?
A. Frequent suctioning
B. CPAP and mechanical ventilation
C. Keep the newborn NPO and put it on maintenance fluid
D. Keep the newborn in prone position to minimize aspiration
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OMPHALOCELE
• It is herniation of abdominal contents into the
base of the umbilical cord
• The herniated organs are covered by the
parietal peritoneum
• The sac may contain liver and spleen as well
as intestine
• It is associated with cardiac, GI, and
chromosomal anomalies
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OMPHALOCELE management
Covering the defect with a Antibiotics
sterile dressing soaked with Keep NPO until the
warm saline to prevent fluid surgical opinion
loss obtained
NGT decompression
Urgent surgical
IV fluids and glucose consultation
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GASTROSCHISIS
• In gastroschisis, the intestine extrudes
through an abdominal wall defect
occurs to the right of the umbilical
cord insertion
• There is no membrane or sac and no
liver or spleen outside the abdomen
• Gastroschisis usually is not associated
with other anomalies
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GASTROSCHISIS management
At the time of delivery, the neonate should be placed in a
bowel bag enclosed to the neonate’s axilla
This bag protects the bowel and also helps to retain body heat
The neonate should be placed with the right side angled
slightly down:
to prevent kinking(twisting) of the mesentery
to maximize blood flow to the bowel
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Figure: A bowel bag enclosed to the neonate’s axilla
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GASTROSCHISIS management#2
An orogastric or nasogastric tube is placed to suction and
empty the stomach
All neonates should receive empiric broad spectrum
antibiotics, preferably ampicillin and gentamicin
Immediate intubation is not required if the neonate’s
respiratory status is stable
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GASTROSCHISIS management#3
Umbilical catheterization is not recommended
Surgical management is dependent on the defect
Surgical options include
Primary closure
Staged reduction with a silo or sutureless umbilical closure
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GASTROSCHISIS management#4
Primary umbilical cord closure is a relatively new
technique that uses the patient’s own umbilical cord stump as
a biologic dressing to seal the gastroschisis defect without
attempting a primary fascial closure
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DIAPHRAGMATIC HERNIA
It is herniation of abdominal organs into the
hemi thorax (usually left) through a
postero-lateral defect in the diaphragm
Associated malformations:
Congenital heart disease (CHD)
Neural tube defects
Skeletal anomalies
Intestinal atresias
Renal anomalies
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DIAPHRAGMATIC HERNIA Clinical manifestation
Cyanosis
Severe respiratory distress
Scaphoid abdomen
Presence of bowel sound in the chest
Heart sounds displaced to the side opposite the hernia
Decreased or absence of breath sounds on the side of the hernia
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DIAPHRAGMATIC HERNIA management
Avoid giving bag and mask ventilation
Prepare for intubation
Insert NGT for decompression of the GI tract
Keep NPO
Start IV infusion of glucose and fluid
Chest radiograph confirms the diagnosis
Urgent surgical consultation should be made
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CLEFT LIP/PALATE
Oro-facial clefts (CL and CP) are common birth defects
Cleft lip may occur with or without cleft palate
They may occur as part of a syndrome involving multiple other
organs or as an isolated malformation
CL may be unilateral in 80% or bilateral in 20% of cases
When unilateral, it is more common on the left side (70%)
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CLEFT LIP/PALATE #2
CL appears because of hypoplasia of the mesenchymal
layer, resulting in a failure of the medial nasal and maxillary
processes to join
CP results from failure of palatal shelves to approximate
or fuse
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CLEFT LIP/PALATE causes
Folic acid deficiency
Use of methotrexate in pregnant mother
Environmental factors such as cigarette smoking and alcohol
use in pregnancy
Use of anticonvulsants (phenytoin and valproic acid)
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CLEFT LIP/PALATE clinical features and diagnosis
CL may vary from a small notch in the vermilion border to a
complete separation involving skin, muscle, mucosa, tooth,
and bone
Deformed, supernumerary or absent teeth are associated
findings
CP with CL may involve the midline of the soft palate and
extend into the hard palate on one or both sides, exposing one
or both of the nasal cavities
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Bifid uvula, partial separation of muscle with intact mucosa, or
CL AND CP classification
Cleft lip and Cleft palate Incomplete Complete Complete
alveolus unilateral cleft unilateral bilateral cleft
lip and palate cleft lip and lip and palate
palate
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Figure: Cleft vermilion border of lip
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CL/CP management#1
Babies with isolated cleft lip can feed normally
Cleft palate is associated with feeding difficulties
The baby is able to swallow normally but unable to suck
adequately
Milk regurgitates through the nose and may be aspirated into
the lungs
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CL/CP management#2
Feed using expressed breast milk via a cup and spoon, or if
available AND adequate sterility of bottles can be ensured, a
special teat may be used
The technique of feeding is to deliver a bolus of milk over the
back of the tongue into the pharynx by means of a spoon,
pipette, or some other pouring device
The baby will then swallow normally
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CL/CP management#3
Close follow-up in infancy is required to monitor feeding and growth
Surgical closure of the:
Lip is performed at 3 months of age (may be revised at 4-5 years of age)
The palate is performed around 1 year of age
Follow-up after surgery to monitor hearing (middle-ear infections are
common) and speech development
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Any comment, suggestions..
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