Body-stalk anomaly is a severe abdominal wall defect that results in the absence or shortening of the umbilical cord. In this condition, the abdominal organs lie outside the abdominal cavity and attach directly to the placenta. Body-stalk anomaly is the rarest and most severe of fetal abdominal wall defects and is considered to be fatal.

What causes it?

While the cause of body-stalk anomaly is unknown, theories include early rupture of the amnion (the sac encasing the fetus) along with amniotic band constriction due to that rupture. Disruption of the embryo’s vascular system or an abnormality in the fertilized egg are also potential causes.

Body-stalk anomaly has been associated with cocaine usage and younger mothers but is mostly considered to occur randomly. It is not believed to run in families, and because it is believed to occur randomly, no future pregnancies should be affected by this anomaly.

Diagnosis

Body-stalk anomaly is usually diagnosed by prenatal ultrasound in either the first 10-14 weeks of pregnancy or at approximately 16-20 weeks of pregnancy, depending on when a patient has an ultrasound performed. Malformed abdominal structures are usually visible on the images, as are abnormalities of the head, arms and legs.

Because the condition is almost always fatal, it’s important to detect it as early as possible to give parents the option of early termination. After diagnosis, some parents may choose to allow the pregnancy to proceed without interruption.

*diagnostic information provided courtesy of our partners at Colorado Fetal Care Center

The Fetal Health Foundation is a parent-founded non profit helping families experiencing a fetal syndrome diagnosis.