Prevalence:

• 1 in 3,000 births

Ultrasound diagnosis:

• Small or ‘absent’ stomach in the presence of polyhydramnios >25 weeks’ gestation.
• Esophageal atresia may be suspected prenatally in only about 40% of cases because if there is an associated tracheoesophageal fistula (found in >80% of cases), the stomach may look normal.

Associated abnormalities:

• Chromosomal defects: trisomy 18 found in 20% of cases and trisomy 21 in 1% of cases.
• Other defects, mainly cardiac, found in 50% of cases.
• Tracheoesophageal fistulae may be seen as part of the VACTERL association (sporadic; vertebral and ventricular septal defects, anal atresia, tracheoesophageal fistula, renal anomalies, radial dysplasia and single umbilical artery).

Investigations:

• Detailed ultrasound examination, including echocardiography.

Follow up:

• Ultrasound scans every 2-3 weeks to monitor growth and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening.

Delivery:

• Place: hospital with neonatal intensive care and pediatric surgery.
• Time: 38 weeks.
• Method: induction of labor aiming for vaginal delivery.

Prognosis:

• Survival is primarily dependent on gestation at delivery and the presence of other anomalies. For babies with an isolated tracheoesophageal fistula, born after 32 weeks' gestation without aspiration pneumonitis, postoperative survival is >95%.

Recurrence:

• Isolated: no increased risk of recurrence.
• Part of trisomies: 1%.