Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy and Live Birth Rates of Infants With Down Syndrome? EDITORIAL COMMENT

摘要

Noninvasive prenatal testing (NIPT) for aneuploidy using cell-free DNA (cfDNA) has become widely available and popular for detection of Down syndrome (DS) because of its high sensitivity (99%) and specificity (99.5%). The acceptance of NIPT as an alternative to the first-trimester combined test has greatly reduced the use of invasive prenatal diagnostic testing. Widespread implementation of NIPT may result in an increase in parents opting for prenatal testing and subsequent reduction in those born with DS as pregnancies are terminated following a high-risk result.