Congenital Anomalies

Julniar M Tasli
Herman Bermawi

CONGENITAL ANAOMALIES
Objective :
The purpose of this lecture is to provide the
student recognizing, diagnosing, stabilizing and
making decision of transport as needed to
reveral center

Overview
Congenital anomalies are abnormalities
present at birth.
They are malformations in structure,
position, or function of an organ or system.
They are a common cause of mortality
and disability in early life.
Causes range from inherited, genetic
disorders to teratogenic insults to the
developing fetus.

Task: List of congenital anomalies

Otolaryngology
Neurological disorders
Cardiovascular disorders
Respiratory disorders
Gastrointestinal disorders
Genitourinary disorders

Task: Recognition investigation

management: Otolaryngology
(common)
Choanal atresia/stenosis
Cleft lip/palate

Task: Recognition :
Choanal atresia
Bilateral atresia:
Cyanosis, alleviated by crying
Respiratory distress
Difficulty with feeding
Unilateral atresia:
Presented usually later in life

Task: Diagnosis :
Choanal atresia
Fully examination head
& neck
Pass 6F soft catheter into
nostril
Minimize congestion by
avoiding multiple attempts
Direct examination into the
nostrils (flexible fiberoptic
bronchoscope)

Cleft lip palate (CL/P)

Incidence (US):
1 in 1000 births
(white)
2 in 1000 (asian)
3.6 in 1000 (native
Indian)
0.3 in 1000 (black)
Common in male; 90%
unilateral
Prenatal diagnosis: US
starting 16weeks

Cleft lip palate (CL/P)

Etiology: failure of normal
orofacial development during the
6th-12th wks of embryonic life
Management:
Pre-operative: feeding problem
Encourage breast-feeding
Other devices:Haberman
Check weight gain frequently
(weekly)
Operative:
3-5 mo: closure lip, nasal,
alveolar clefts
8-10 mo: palatoplasty
Post-operative: prevention of

Pierre-Robin
sequence
Airway patency problem, if
severe tracheostomy
Feeding problem, if severe,
may need gastrostomy
placement
Sequence: stunted growth of First stage repair:tongue-lip
adhesion (glossopexy)
mandible displacement of
tongue clefting of palate
(roof of mouth)
Associated with:
Sticklers syndrome
(collagen mutation)
Velocardifacial syndrome
(Chr 22q11 deletion

Pierre-Robin
sequence

Tracheostomy
Distraction Osteogenesis

After reconstruction

Diagnosis
Physical Examination
Investigation
Management

Task: Recognition investigation

management: Neurological
disorders (common)
Hydrocephalus
Meningomyelocele

Hydrocephalus

Dandy-Walker malformation

Hydrocephalus
Incidence 1 in 1000 live birth
Porencephalic cyst Associated with:
Aqueductal stenosis (33%)
Myelomeningocele ArnoldChiari malformation (28%)
Dandy-Walker (7%)
PHH (post-hemorrhagic
hydrocephalus)

Etiologies of Congenital hydrocephalus

Engorged vein ~ ICP

Accumulation of CSF
oversecretion of CSF:
Papilloma of the choroid plexus
Increased venous pressure
Obstruction of CSF pathways
Intraventricular block at the level
of the foramen of Munro, 3rd
ventricle, Sylvian aqueduct, or 4th
ventricle
Extraventricular block from
inflammation or tumours
Deficient resorption
Venous hypertension
Abnormalities of the arachnoid villi
Unknown mechanisms

Treatment
Progressive: treatment
(VP shunt)

Non-progressive (brain
atrophy): no treatment

Aqueductal stenosis
Myelomeningocele
with associated
Hydrocephalus
Congenital
communicating
hydrocephalus
Dandy-Walker

Brain malformation:
holoprosencephaly,
lissencephaly
Hydrancephaly
Atrophy post infection
Periventricular
leukomalacia

Diagnosis
Physical Examination
Investigation
Management

Task: Recognition investigation

management: respiratory
disorders (common)
Esophageal atresia and
tracheoesophageal fistula
Congenital diaphragmatic hernia

Tracheoesophageal fistula
Fail of esophagotracheal septum to separate the
esophagus and the trachea

Baby EM , female, FT,

1 hr of life. Agitation,
tachypnea, drooling of
saliva. Chooking with
the first feeding,
inability to pass a NG
suction catheter

Types of TEF

Diagnosis: (1) NG insertion; (2) X-ray;

(3) fluoroscopy; (4) bronchoscopy

Stabilization then transport

Tracheoesophageal Fistula &
Esophageal Atresia
Head: keep at 450 angle
Insert NGT & suction
Avoid bag-mask,
intubate if needed
Prevent potential
aspiration through
fistula: minimize
abdominal manipulation

Examine for Vertebral,

Anal, Cardiac, Tracheal,
Esophageal, Renal and
Limb anomalies
Recognize lifethreatening condition:
abdominal distention
with deteriorating vital
signs: gastric
decompression (with
large bore needle)

Diagnosis
Physical Examination
Investigation
Management

This infant was brought to your attention at ~ 30

minutes of life for respiratory distress (tachypnea,
cyanotic and grunting). Rales bilaterally. What is your
differential diagnosis:.
Congenital Diaphragmatic Hernia
Esophageal atresia with blind pouch
CNS depression
. How do you differentiate them

Congenital Diaphragmatic Hernia

A diaphragmatic defect occurs at 8-10 wks of gestation, owing to
failure of closure of the pleuroperitoneal canal, thus the presence
of the abdominal viscera in the thoracic cavity

1: 2000-5000
Left : common 70%
(through foramen of
Bochdalek)
Initial treatment:
stabilization of pulmonary
function, prevention of
PPHN
Surgical repair: after CR
stable
Mortality ~40%

Stabilization then
transport
of
congenital
diaphragmatic
hernia Avoid bag-mask & intubate

promptly
Insert NGT & suction
Insert umbilical arterial and
venous lines
Nothing by Mouth (NPO)
Transfer to the treatment center

Diagnosis
Physical Examination
Investigation
Management

Task: Recognition investigation

management: Gastrointestinal
disorders (common)
Gastroschisis
Omphalocele
Imperforate anus

How do you differentiate

omphalocele and gastroschisis?
Which one is associated with
chromosomal abnomalities?

Pathogenesis
Gastroschisis:
Umbilical veins 2 1
Left moves centrally
Right: regresses and may creating a weak spot (~6wk
of gestation) and created the defect when intestines
returns into the abdominal cavity at ~10 th week of
gestation)

Teratogen exposure
Genetic
Omphalocele:
Intestinal loops fail to return to the abdominal
cavity at ~ 11 wk
Due to abnormal embryonic development, thus
high rate of associated defects & chromosomal
abnormalities

Characteristics

Gastroschisis

Omphalocele

Location
Cover sac
Appearance
Other anomalies

Right of umbilicus
absent
matted, edematous
10-20%

within the ring

present
usually normal
45-80%

GI
non-GI

Chromosome
Bowel function
post- Sx

intestinal atresia, midgut

rare
volvulus, intestinal stenosis
rare
common
(heart:28%;
GU(20%)
CDH(12%)

rare
slow

50%, trisomies
normal to slow

Stabilization then transport

Gastroschisis, Omphalocele
Prevent hypothermia: cover
with clear plastic, avoid
gauze that usually stick to
the bowel)
Insert NGT & suction
Prevent bowel ischemia:
place the baby on side
Prevent infection: start IV
antibiotic : Ampicillin +
Gentamycin

Omphalocele: examine for

Cardiac, Renal, Imperforate
anus, Chromosome:Trisomy
13,18,21,BeckwithWiedemann Syndrome (large
tongue, gigantism,
hypoglycemia), CHARGE
association.
Gastroschisis: look for other
intestinal atresia

Immediate Surgery:
primary closure vs. stages closure (silo):
Silo reduction: gradual fitting of
abdominal content into the cavity
To promote epithelialization: apply
silver nitrate/silver sulfadiazine

Diagnosis
Physical Examination
Investigation
Management

This baby was about

to be discharged
home, when an
astute intern checked
the anal opening and
found a dimple
instead of an
opening. By the way,
rectal temperature
has been recorded
for more than 24
hours.

Clinical manifestation
Look for fistula:
Male: perineal or
rectourethral,
rectovesical (rare) :
meconium in the
urine
Female: perineal or
vestibular (posterior
to hymen) or cloaca
(single opening for
rectum, vagina and
urethra

50-60% may have other

anomalies:
V-vertebrae
A-imperforate anus
C-cardiac (12-22%)
TE- tracheoesophageal
fistula
R-renal and GU
anomalies
L-radial limbs
abnormalities

Diagnosis & Treatment

Dilatation for perineal or vestibular fistula
All other fistulae required distal
colostogram to determine the anatomy
Colostomy for all other fistula
Definitive reconstruction

Diagnosis
Physical Examination
Investigation
Management

TERIMAKASIH