- 1 in 5,000 births.
- Overdistention of the rectum and sigmoid colon in the third trimester.
- Normal amount of the amniotic fluid.
- Occasionally, intraluminal calcifications (meconium) can be visualised.
- 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%
- 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).
- Detailed ultrasound examination.
- Follow-up should be standard.
- Place: hospital with neonatal intensive care and pediatric surgery.
- Time: 38 weeks.
- Method: induction of labor aiming for vaginal delivery.
- In isolated cases the overall survival is good.
- In cases presenting with multiple abnormalities the prognosis is poor.
- No increased risk of recurrence.
- Part of trisomies: 1%.