Noninvasive Prenatal Testing for Copy Number Variation and Sub-Chromosomal Variations

Noninvasive prenatal testing (NIPT) has upgraded prenatal screening by providing a method for detecting fetal genetic abnormalities early during pregnancy. This chapter aims to provide a comprehensive review of the current state of NIPT, focusing on detecting copy number variations (CNVs) and sub-chromosomal variations. CNVs and sub-chromosomal variations encompass various genetic abnormalities, including chromosomal deletions, duplications, and rearrangements. Traditional methods for detecting these variations, such as invasive procedures like amniocentesis or chorionic villus sampling, carry a certain amount of risk and discomfort. Based on the analysis of cell-free placental DNA (cfpDNA) in maternal blood, NIPT offers a noninvasive alternative that has gained significant attention and acceptance in clinical practice.