Clinical application of non-invasive prenatal testing using cell free fetal DNA

Abstract

Non-invasive prenatal testing using next generation sequencing technology with cell free fetal DNA from the blood of pregnant women has been rapidly adopted as a screening test for the detection of disorders involving chromosomal aneuploidy, especially Down syndrome. However as part of a prenatal recommendation in high-risk group, this laboratory assessment should be accompanied by informed counseling at both pre-test and post-test stages. In low-risk group and multifetal pregnancies, only conventional maternal serum screening tests in the first trimester and/or second trimester in addition to measurement of nuchal translucency should be recommended, until this potential tool has been incorporated into current screening strategic modalities on the basis ofsufficient published data.