Division of Perinatology Department of Child Health Medical School University of Sumatera Utara

CONGENITAL ANOMALIES  Otolaryngology  Neurological disorders  Cardiovascular disorders  Respiratory disorders  Gastrointestinal disorders  Genitourinary disorders

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

Diagnosis Choanal atesia 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

Cleft lip ± palate (CL/P) Etiology: failure of normal orofacial development during the 6 th -12 th 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 infection

Pierre-Robin sequence  Sequence: stunted growth of mandible → displacement of tongue → clefting of palate (roof of mouth)  Airway patency problem, if severe → tracheostomy  Feeding poblem, if severe, may need gastrostomy placement  First stage repair:tongue- lip adhesion (glossopexy)

Pierre-Robin sequence Distraction Osteogenesis Tracheostomy After reconstruction

Neurological disorders  Hydrocephalus  Meningomyelocele

Congenital hydrocephalus: etiologies 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

Clinical presentation and Diagnosis  Macrocephaly, rapid ↑ head circumference, large anterior and posterior fontanelle, splitting sutures  CNS:lethargy, hypotonia, impaired gaze, poor feeding  PE: ↑↑ HC, tense fontanelle, splitting sutures

Treatment Progressive: treatment (VP shunt)  Aqueductal stenosis  Myelomeningocele with associated Hydrocephalus  Congenital communicating hydrocephalus Non-progressive (brain atrophy): no treatment  Brain malformation: holoprosencephaly, lissencephaly  Hydrancephaly  Atrophy post infection

 Meningocele: a protrusion of meninges only through a bony defect in the vertebral column  Myelomeningocele: a protrusion of meninges and spinal cord through a bony defect in the vertebral column  Spina bifida occulta: vertebral defect in the absence of spinal cord or meningeal herniation

Respiratory disorders  Esophageal atresia and tracheoesophageal fistula  Congenital diaphragmatic hernia

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

Types of TEF Diagnosis: (1) NG insertion; (2) X-ray; (3) fluoroscopy; (4) bronchoscopy

Stabilization then transport Tracheoesophageal Fistula & Esophageal Atresia  Head: keep at 45 0 angle  Insert NGT & suction  Avoid bag-mask, intubate if needed  Prevent potential aspiration through fistula: minimize abdominal manipulation

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

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

Gastrointestinal disorders  Gastroschisis  Omphalocele  Imperforate anus

How do you differentiate omphalocele and gastroschisis? omphalocele gastroschisis

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

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,Beckwith- Wiedemann Syndrome (large tongue, gigantism, hypoglycemia), CHARGE association.  Gastroschisis: look for other intestinal atresia

Imperforate anus

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

Genitourinary disorders Bladder exstrophy Failure of midline fusion including deep structures eg. Symphisis pubis and bladder wall Surgery: Orthopedics Urologist Nephrologist and psychologist

Common lethal anomalies  Trisomy 13  Trisomy 18

Trisomy 13 Cutis aplasia Micrognathia Microtia + low set Polydactyly Cleft L/P Midline defect

Clenched hand Lower-set ear Micrognathia Prominent occiput Trisomy 18 Hypoplastic nail Small for gestation Heart diseases Renal anomalies Abnormal genitalia Severe mental retardation Rocker bottom feet