Detection of Monogenic Disorders Using Noninvasive Prenatal Screening

The early detection of cell-free fetal DNA in the mother’s bloodstream during the first trimester has led to increased utilization of noninvasive prenatal screening (NIPS) to screen for numerous monogenic disorders. These disorders are characterized by genetic anomalies where a single gene is responsible for disease pathogenesis. In this chapter, we discuss the techniques, advancements, and implications of NIPS, as well as its application in screening various monogenic disorders. Additionally, the chapter explicitly discusses different monogenic diseases and how they are screened using NIPS.