J Korean Med Assoc.  2014 Sep;57(9):771-779. 10.5124/jkma.2014.57.9.771.

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

  • 1Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea. yangji@ajou.ac.kr


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.


Cell free fetal DNA; Non-invasive prenatal testing; Aneuploidy
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