Screening for Open Neural Tube Defects

Maternal serum screening for congenital anomalies began over 30 years ago with the advent of alpha-fetoprotein (AFP) screening for open neural tube defects. It was from these screening programs that the more complex multiple marker Down syndrome screening programs developed. However, today open neural tube defect screening remains a relatively simple approach. In recent times, questions arise about the validity of the risk assessment associated with neural tube defect screening because of the impact of folate acid enrichment in diets and lack of outcome ascertainment. However, it still remains true that those with elevated AFP levels are at higher risk for having a pregnancy affected with open neural tube defect.