Division of PerinatologyDivision of PerinatologyDepartment of Child Health Medical School

University of Sumatera Utara

CONGENITAL ANOMALIESCONGENITAL ANOMALIES

OtolaryngologyNeurological disordersC di l di dCardiovascular disordersRespiratory disordersGastrointestinal disordersGastrointestinal disordersGenitourinary disorders

OtolaryngologyOtolaryngology

Choanal atresia

Bilateral atresia:Bilateral atresia:Cyanosis, alleviated

by cryingR i t di tRespiratory distressDifficulty with feeding

Unilateral atresia:Presented usually

later in life

Diagnosis Ch l t iChoanal atesia

Fully examination head & neckP 6F ft th t i t t ilPass 6F soft catheter into nostrilMinimize congestion by avoiding multiple attempts p pDirect examination into the nostrils (flexible fiberoptic bronchoscope)

Cleft lip ± palateCleft lip ± palate

Cleft lip ± palate (CL/P)

• Etiology: failure of normal orofacial development during the 6th-12th wks of embryonic life

• Management:Management:Pre-operative: feeding problem

•Encourage breast-feeding•Other devices:Haberman•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 infectionost ope at e p e e t o o ect o

Pierre-Robin sequence

Sequence: stunted growth of mandible→sequence growth of mandible→displacement of tongue→ clefting of palate (roof of mouth)

Airway patency problem, if severe → tracheostomyyFeeding poblem, if severe, may need

t t l tgastrostomy placementFirst stage repair:tongue-lip adhesion (glossopexy)lip adhesion (glossopexy)

Pierre-Robin sequence

Tracheostomy

Distraction Osteogenesis After reconstruction

N l i l di dNeurological disorders

HydrocephalusMeningomyelocele

Congenital hydrocephalus: etiologiesAccumulation of CSFAccumulation of CSF

Oversecretion of CSF:Papilloma of the choroid plexusPapilloma of the choroid plexusIncreased venous pressure

Obstruction of CSF pathwaysIntraventricular block at the level of the foramen of Munro, 3rd ventricle, Sylvian aqueduct or 4th ventricle aqueduct, or 4th ventricle Extraventricular block from inflammation or tumours

Deficient resorption :Venous hypertension Abnormalities of the arachnoid villi Unknown mechanisms

Clinical presentation and Diagnosis

Macrocephaly rapid Macrocephaly, rapid ↑ head circumference, large anterior and anterior and posterior fontanelle, splitting suturesCNS l th CNS:lethargy, hypotonia, impaired gaze, poor feedingPE:↑↑HC, tense fontanelle, splitting sutures

Treatment

P i t t t Progressive: treatment (VP shunt)

Non-progressive (brainatrophy): notreatment

Aqueductal stenosisMyelomeningocele with associated

treatmentBrain malformation: holoprosencephaly, lissencephalywith associated

HydrocephalusCongenital omm ni ting

lissencephalyHydrancephalyAtrophy post infection

communicating hydrocephalus

Meningocele: a protrusion of Meningocele: a protrusion of meninges only through a bony defect in the vertebral columnMyelomeningocele: a protrusion of meninges and protrusion of meninges and spinal cord through a bony defect in the vertebral

lcolumnSpina bifida occulta: vertebral defect in the vertebral defect in the absence of spinal cord or meningeal herniation

Respiratory disorders

Esophageal atresia and tracheoesophageal fistulaCongenital diaphragmatic hernia

Tracheoesophageal fistulaFail of esophagotracheal septum to separate the esophagus andFail of esophagotracheal septum to separate the esophagus and the trachea

Types of TEF

Di i (1) NG i ti (2) XDiagnosis: (1) NG insertion; (2) X-ray; (3) fluoroscopy; (4) bronchoscopy

Stabilization then transportTracheoesophageal Fistula & Esophageal ac eoesop agea stu a & sop ageaAtresia

Head: keep at 450 angleInsert NGT & suctionAvoid bag mask intubate if neededAvoid bag-mask, intubate if neededPrevent potential aspiration through fistula: minimize abdominal manipulation

Congenital Diaphragmatic HerniaA diaphragmatic defect occurs at 8-10 wks of gestationA 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

itcavity

• Left : common – 70%Left : common 70% (through foramen of Bochdalek)I iti l t t t• Initial treatment: stabilization of pulmonary function, prevention of PPHN

• Surgical repair: after CR stablestable

• Mortality ~40%

Stabilization then transport ofcongenital diaph agmatic he niacongenital diaphragmatic hernia

Avoid bag-mask & intubate promptlyInsert NGT & suctionInsert umbilical arterial and venous linesNothing by Mouth (NPO)T ansfe to the t eatment centeTransfer to the treatment center

Gastrointestinal disorders

GastroschisisOmphaloceleOmphaloceleImperforate anus

How do you differentiate omphalocele and gastroschisis?

t hi i omphalocelegastroschisis

PathogenesisGastroschisis:

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

Teratogen exposureGenetic

Omphalocele:Intestinal loops fail to return to the abdominal Intestinal loops fail to return to the abdominal cavity at ~ 11 wkDue to abnormal embryonic development, thus hi h f i d d f & h l high rate of associated defects & chromosomal abnormalities

Stabilization then transportStab at o t e t a spo tGastroschisis, Omphalocele

Prevent hypothermia: cover with clear plastic, avoid gauze that usually

Omphalocele: examine for Cardiac, Renal, Imperforate anus, avoid gauze that usually

stick to the bowel)Insert NGT & suctionP b l i h i

p ,Chromosome:Trisomy 13,18,21,Beckwith-Wiedemann Syndrome

Prevent bowel ischemia: place the baby on sidePrevent infection: start IV

y(large tongue, gigantism, hypoglycemia), CHARGE association.

antibiotic : Ampicillin + Gentamycin

association.Gastroschisis: look for other intestinal atresia

I f tImperforate anus

Diagnosis & Treatment

Dilatation for perineal or vestibular fistulaAll other fistulae required distal colostogram to q gdetermine the anatomyColostomy for all other fistula

fDefinitive reconstruction

Genitourinary disorders

Bladder exstrophyBladder exstrophy

• Failure of midline fusion including deep structures eg. Symphisis pubis and bladder wallwall

• Surgery:•OrthopedicsU l i•Urologist

• Nephrologist and psychologistp y g

Common lethal anomaliesCommon lethal anomalies

Trisomy 13Trisomy 18

Trisomy 13 Cutis aplasia

Microtia + low setMicrotia + low set

Micrognathia

Cleft L/PMidline defect

Polydactyly

P i t i tTrisomy 18

Prominent occiput•Small for gestation•Heart diseases•Renal anomalies•Abnormal genitalia•Severe mental

Clenched hand

Lower-set earSevere mental

retardation

Clenched handMicrognathia

Hypoplastic nail

Rocker bottom feet