Maternal serum screening for fetal genetic disorders

Abstract

Maternal serum analyte screening is an integral component of contemporary antenatal care. Based on elevated MSAFP levels, 85% to 90% of NTDs (e.g., anencephaly or spina bifida) can be detected. Using a combination of serum analytes (e.g., MSAFP, hCG, UE3) 55% to 60% of fetal Down's syndrome can be detected. Future strategies for Down's syndrome screening may include the use of new markers such as dimeric inhibin-A and urinary beta-core fragment of hCG, as well as first-trimester screening, particularly with PAPP-A and free beta-hCG.