division of perinatology department of child health...
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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