Abstract As a prenatal screening test, cell-free DNA-based prenatal testing (cfDNA testing) may lead to widening the scope of prenatal screening beyond common autosomal trisomies. Sex chromosome aneuploidies (SCAs) are…
Abstract Discussions on ethical and social issues have accompanied the emergence of prenatal testing and screening since the 1970s. While genetic testing originally allowed families with severe congenital disorders to…
Abstract Cell-free DNA-based noninvasive prenatal testing (NIPT) has emerged as a valuable prenatal test option without intervention risk and capable to detect trisomy 13, 18, 21 and gonosomal aneuploidies with…
Abstract This chapter will focus on providing decisional support to expectant parents considering cell-free DNA-based noninvasive prenatal testing (cfDNA NIPT) and then through the decisions that arise from the results…
Abstract The cell-free DNA (cfDNA) based prenatal test, often called the noninvasive prenatal test (NIPT) has been developed with a primary focus on prenatal screening for common aneuploidies. In this…
Abstract Genome-wide sequencing of cell-free DNA (cfDNA) from maternal plasma enables noninvasive prenatal testing (NIPT) of all 24 chromosomes. A key advantage of the genome-wide approach is its potential to…
Abstract Twin pregnancies are at increased relative risk of many obstetric complications compared to singletons, including aneuploidy. Antenatal testing for aneuploidy in twin pregnancies, both invasive and noninvasive, has additional…
Abstract The major fraction of cell-free DNA in maternal plasma is derived from maternal cells and only 5%–20% is of “fetal” origin. Therefore any whole or partial chromosomal imbalances in…
Abstract The core goal of cell-free DNA-based prenatal testing (at its introduction called “NIPT”) is to provide minimally invasive, clinically accurate, and financially accessible screening for fetal chromosomal aneuploidies in…
Abstract The primary challenge of cell-free DNA (“cfDNA”) based prenatal testing (commonly called noninvasive prenatal testing or NIPT) is to identify fetal chromosomal anomalies from maternal plasma samples, where maternal…
