Prevalence:

• 1 in 5,000 births.

Ultrasound diagnosis:

• Overdistention of the rectum and sigmoid colon in the third trimester.
• Normal amount of the amniotic fluid.
• Occasionally, intraluminal calcifications (meconium) can be visualised.

Associated abnormalities:

• Chromosomal defects, mainly trisomy 21 and 18, are found in 3-4% of cases.
• Other defects, mainly urogenital malformations, vertebral anomalies and CNS, are found in up to 70%
  of cases.
• Non-genetic syndromes: VACTERL association (sporadic; vertebral and ventricular septal defects, anal atresia, tracheoesophageal fistula, renal anomalies, radial dysplasia and single umbilical artery), Caudal regression syndrome (sporadic; sacral agenesis or hypoplasia, hypoplastic veretebral bodies, anal atresia), OEIS complex (sporadic; omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects).

Investigations:

• Detailed ultrasound examination.

Follow up:

• Follow-up should be standard.

Delivery:

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

Prognosis:

• In isolated cases the overall survival is good.
• In cases presenting with multiple abnormalities the prognosis is poor.

Recurrence:

• No increased risk of recurrence.
• Part of trisomies: 1%.