A pregnant woman at 28 weeks with pre-gestational Type 1 diabetes has HbA1c of 8.5%. She is concerned about fetal risk. Which congenital malformation has the strongest association with poor periconceptional glycemic control in diabetes?

• A Ventricular septal defect
• B Sacral agenesis (caudal regression syndrome) ✓
• C Down syndrome
• D Neural tube defects

Explanation

Sacral agenesis (caudal regression syndrome) is the congenital anomaly most specifically associated with maternal diabetes mellitus, with a 200-fold increased risk compared to the general population. Neural tube defects and cardiac anomalies also occur at increased rates in diabetic pregnancies but are less specific. Down syndrome is related to maternal age, not glycemic control.

Reference: Williams Obstetrics, 26th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.