History:

A 30-year-old gravida 4 para 3 woman has noted minimal fetal movement. She is now at 19 weeks gestation by dates. Her prior pregnancies ended in term births of normal babies who are alive and well at ages 7, 4 and 18 months. On physical examination she measures 17 weeks. A fetal ultrasound is performed and reveals multiple anomalies. A stillborn baby is delivered at 25 weeks.

Pathologic findings include severe scoliosis, amniotic bands, limb reduction (left arm and right foot), and gastroschisis with herniation of abdominal contents.

Questions:

1. Describe the findings in this case. Is there a specific pattern of inheritance?

No, this does not fit with a syndrome that has a defined inheritance pattern. This complex is sometimes called "amnionic band syndrome" but such bands may only be present in half of cases of LBW complex. Seen here in association with LBW complex are reductions of the extremities, particularly the left upper extremity, and scoliosis. There is a gastroschisis, which is a body wall defect lateral to the umbilicus. The umbilical cord is typically short. Not seen here are craniofacial clefts and defects that can also occur with LBW complex.

2. What is the pathogenesis?

The bands, as well as the other defects, may arise from early amnion disruption in embryogenesis with formation of adhesions and loss of structures such as extremities and abdominal wall.

3. Is there additional testing that you would perform?

The ultrasound is often diagnostic. If a "triple screen" or just a maternal serum alpha-fetoprotein (AFP) had been obtained, the AFP would have been elevated. In cases where the findings are not as clear, cells from amniocentesis may be sent for cytogenetic analysis.

4. What would you counsel the parents regarding future pregnancies?

This condition is considered to be sporadic, so the recurrence risk is probably not much greater than for any pregnancy--about 3 to 5%.