Prenatal maternal serum screening for fetal aneuploidy

Abstract

During recent decades, prenatal screening strategies have evolved greatly. Prenatal screening, including the diagnosis of fetal aneuploidy, includes invasive and non-invasive methods. Various combinations of first and second trimester maternal serum analytes and fetal ultrasound measurements have been proposed to construct a screening method with high sensitivity and specificity. Non-invasive tests are performed either by maternal serum analyte screening alone (double marker test, triple test, quadruple test, or serum integrated test), serum screening combined with ultrasound (integrated test, sequential test, or contingent test), or most recently, the cell-free fetal DNA test. Recent advances in prenatal screening methods have resulted in tremendous advantages to patients and healthcare providers. Therefore new approaches to counseling are necessary to ensure that all patients and healthcare providers receive the most comprehensive access to prenatal screening and diagnostic testing options. This article summarizes the various prenatal maternal serum screening options for fetal aneuploidy.