Background: Body stalk anomaly is a rare anomaly which affects 1:14000 to 42,000 pregnancies. The abnormality is characterized as major abdominal wall defect, severe kyphoscoliosis, rudimentary umbilical cord and/or craniofacial defects. The pathogenesis of this anomaly is not well understood but the possible causes are faulty folding of the trilaminar disc, whereby the extra-embryonic coelom fails to obliterate and parts of fetal body remains in an exo-coelomic situation. 

Case Summary: We report two cases of body stalk anomaly found at Hospital Sungai Buloh. The first case was a 32 year old, referred to Hospital Sungai Buloh at 23 weeks. The transabdominal scan revealed saccrococegeal cyst. In order to confirm the diagnosis, patient was scheduled for an anomaly scan at 24 weeks. The scan revealed large anterior abdominal wall defect, the whole abdominal wall content was flooding into the amniotic cavity with dilated bowel loops attached directly into the placenta. The scoliosis was consistent with the limb wall complex (body stalk anomaly). Patient was offered termination of pregnancy and she delivered via spontaneous vaginal delivery. Second case was a 35 year old, referred at 21 weeks to Hospital Sungai Buloh for fetal anomaly. Transabdominal scan showed abnormal loops of bowel in the coelomic space. Anomaly scan at 23 weeks, showed large defect of anterior abdominal wall, bowels extruded, liver extruded, short umbilical cord, bladder partially extruded. This patient was offered termination of pregnancy and she delivered via spontaneous vaginal delivery at 24 weeks 5 days.

Conclusion: In both cases the presentation was late. These defects can be diagnosed early in pregnancy as early as 14 weeks. There should be a shift in policy to identify fetal anomalies during the first trimester screening. A need for an active first trimester screening is urgently needed.