Non-invasive Prenatal Test as Primary Screening for Down Syndrome

Abstract

The performance of non-invasive prenatal testing (NIPT) is superior to that of current Down screening methods in both high- and low-risk pregnancies. On the other hand, concern over loss of benefits from current screening strategy for Down syndrome after its replacement by NIPT is not substantiated. The ethical principles of equity and reproductive autonomy also favour NIPT for universal screening. A preliminary analysis showed that the current Down screening strategies in the Hospital Authority could be replaced by NIPT without increasing the expense per case of trisomy 21 diagnosed from a societal perspective. In fact, the use of NIPT as a primary screening test for all pregnant women has been endorsed by the International Society of Prenatal Diagnosis.