First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

Abstract

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks’ gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.