Clinical application of non-invasive prenatal testing using cell free fetal DNA.
10.5124/jkma.2014.57.9.771
- Author:
Jeong In YANG
1
Author Information
1. Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea. yangji@ajou.ac.kr
- Publication Type:Original Article
- Keywords:
Cell free fetal DNA;
Non-invasive prenatal testing;
Aneuploidy
- MeSH:
Aneuploidy;
Counseling;
DNA*;
Down Syndrome;
Female;
Humans;
Mass Screening;
Maternal Serum Screening Tests;
Nuchal Translucency Measurement;
Pregnancy;
Pregnancy Trimester, First;
Pregnancy Trimester, Second;
Pregnant Women
- From:Journal of the Korean Medical Association
2014;57(9):771-779
- CountryRepublic of Korea
- Language:Korean
-
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.