Applications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA

In 1997, the detection of male DNA in peripheral blood samples from women bearing male fetuses proved that fetal DNA circulates in maternal plasma and serum1. Circulating “fetal” cell-free DNA (cfDNA), which is mainly released from the placenta into maternal circulation, is used in noninvasive prenatal testing (NIPT). Currently, NIPT is primarily used to screen for 3 fetal aneuploidies, trisomy 21, trisomy 18, and trisomy 13, and its performance in detecting thes e has been well studied in both high-risk and low-risk populations2.
Source: Clinics in Laboratory Medicine - Category: Laboratory Medicine Authors: Source Type: research