Congenital Anomalies Fred Hill, MA, RRT

Abdominal Wall Defects Omphalocele - central defect in umbilicus, covered by a membrane Gastroschisis - cleft in abdominal wall to right of umbilicus. Not protected by membrane. External loops of bowel are thickened, covered by a fibrinous peel

Omphalocele

Gastroschisis

Abdominal Wall Defects Interventions Protection and support of viscera are most important. Nasogastric tube for decompression of bowel Thermal regulation Fluids and electrolytes Prevention of infection - prophylactic antibiotics Surgical interventions

Abdominal Wall Defects Problems Associated defects –Trisomy 13 or 18 –Urinary tract abnormalities –Beckwith-Wiedemann syndrome: includes macrosomia, macroglossia, omphalocele, and hypoglycemia –Congenital heart defects –Pentalogy of Cantrell: omphalocele, as well as defects in diaphragm, sternum, heart, and pericardium

Abdominal Wall Defects Problems Reduced abdominal cavity Malrotation of bowel (omphalocele) Bowel atresias,strictures, adhesions, stenoses (gastroschisis) Difficulty in ventilation when bowel is compressed surgically into abdomen

Congenital Diaphragmatic Hernia Occurrence: 1 in 3000 births Description: displacement of abdominal contents through diaphragm into thoracic cavity - most often left-sided

Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia Recognition Respiratory distress Scaphoid abdomen Presence of bowel sound and/or absence of breath sounds in all or portion of chest Displaced heart sounds - away from affected side - most often, dextrocardia

Congenital Diaphragmatic Hernia Interventions Do not bag-and-mask ventilate Give 100% oxygen Intubate if respiratory distress is profound Ventilate with small tidal volumes/ minimize peak airway pressures (which will tend to be high) Watch for pneumothorax Decompress stomach with orogastric tube (if possible) Transport with affected side down Surgical intervention

Congenital Diaphragmatic Hernia Problems Pulmonary hypoplasia Pneumothorax/barotrauma Persistent fetal circulation

Tracheo-Esophageal Fistula/ Esophageal Atresia Occurrence: 1 in 4500 births Description: various interruptions in esophagus and abnormal connections to the trachea

Tracheo-Esophageal Fistula/ Esophageal Atresia

Esophageal atresia without fistula (5-7%) Esophageal atresia with distal fistula (85%) Esophageal atresia with proximal fistula Esophageal atresia with proximal and distal fistula T-E fistula without esophageal atresia (H- type) (5%)

Tracheo-Esophageal Fistula/ Esophageal Atresia Recognition Polyhydramnios Excess salivation and drooling Episodes of choking, gagging, and dyspnea, especially with feeding Crying or coughing leads to distended abdomen Chest X-ray may reveal pneumonia, pneunonitis, atelectasis, elevated diaphragm. Dilated esophageal pouch. Presence or absence of air in abdomen Inability to pass a large catheter into esophagus

Tracheo-Esophageal Fistula/ Esophageal Atresia Interventions Maintain in 30 degree, upright position to minimize chances of gastric reflux Insert nasogastric tube into esophageal pouch and suction to remove excess, pooled secretions Humidification, CPT, oxygen, and antibiotics may be added in the treatment of aspiration pneumonitis Feeding can be accomplished via gastrostomy tube when surgical correction is delayed Surgical intervention

Tracheo-Esophageal Fistula/ Esophageal Atresia Problems Cardiac (37%): most common (1) VSD, (2) PDA, (3) Tetrology of Fallot Gastrointestinal (21%) VACTERL syndrome (7%): vertebral, anal, cardiac, trachea, esophageal, renal, and limb anomalies

Choanal Atresia Descriptions Choanae: two openings in the posterior portion of the nasal cavity that allow airflow from the nose to pharynx Choanal atresia: blockage of these openings from choanal stenosis, a bony septum, or membranous obstruction

Choanal Atresia

Choanal Atresia Recognition Newborns are “obligate nasal breathers” first two months of life –Respiratory distress - cyanosis and retractions resolves when the baby cries worsens when the baby sucks –Failure to pass a 6 Fr suction catheter through nares –Visualization of region by nasopharyngoscope –Unilateral choanal atresia may have less severe to nonexistent respiratory distress, inspiratory stridor may be heard

Choanal Atresia Interventions Placement of oral airway Topical decongestant in case obstruction caused by nasal edema rather than choanal atresia

Choanal Atresia Problems 20 to 50% have assciated defects CHARGE syndrome –Colobomata of the eyes –Heart defects –Atresia of the choanae –Renal anomaly –Growth and mental retardation, gastresophageal reflux –Ear deficits

Pierre-Robin Syndrome Description: Glossoptosis and micrognathia. Tongue is large in comparison to mandible, reduced oropharynx. Often includes cleft palate. Tongue is more posterior and falls back in hypopharynx to cause airway obstruction. Recognition: reduced mandible. Mild-to- severe respiratory distress to complete obstruction

Pierre-Robin Syndrome

Pierre-Robin Syndrome Interventions Prone position Nasopharyngeal airway Nasotracheal airway Surgical suturing of tongue to lower lip to button attached to skin of chin Tracheostomy Gastrostomy or nasogastric tube for feedings