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Clinical Study of Non-Invasive Prenatal Testing Using Next-Generation Sequencing
J Lab Med Qual Assur 2015;37:214-218
Published online December 31, 2015
© 2015 Korean Association of Quality Assurance for Clinical Laboratory.

Dong Hee Seo1,2, Dae-Yeon Cho1, Jihun Kim1, So Young Kim2, Sung Eun Cho2, and Mijin Oh1

1LabGenomics Clinical Research Institute and 2LabGenomics Clinical Laboratories, Seongnam, Korea
Correspondence to: Dong Hee Seo
LabGenomics Clinical Research Institute, 700 Daewangpangyoro, Bundang-gu, Seongnam 13488, Korea
Tel: +82-31-628-0730 Fax: +82-31-628-0701 E-mail:
Received July 14, 2015; Revised September 16, 2015; Accepted September 17, 2015.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Background: Serological prenatal screening tests are widely used to detect fetal chromosomal abnormalities such as Down and Edward syndromes. After determining the presence of fetal cell-free DNA in maternal blood, the non-invasive prenatal test (NIPT) coupled with next-generation sequencing has been performed in other countries, therefore, we developed a domestic NIPT technology.
Methods: The results of genomics-based NIPT performed between April and May, 2015 were analyzed. Maternal blood samples were collected in a specific Cell-Free DNA BCT tube. The samples were then massively sequenced using MiSeq and NextSeq 500 (Illumina Inc., USA) using LabGenomics laboratory-developed libraries. Chromosomal abnormalities were analyzed using a bioinfomatics algorithm.
Results: A total of 464 cases were analyzed. The samples of 12 subjects had to be collected again because of a low fetal DNA fraction in the initially obtained samples. Among the 456 cases for which fetal genome results were obtained, 436 had a low risk of trisomy, 12 had a high risk for Down syndrome, two had a high risk for Edward syndrome, and four had sex chromosomal aneuploidy, showing that the positive percentage of chromosomal abnormalities was 4.4%. All 12 cases with high risk for Down syndrome were confirmed as having trisomy 21 by amniocentesis.
Conclusions: Our laboratory-developed genomics-based NIPT showed high positive predictive value, therefore, NIPT may be replaced by our own developed method.
Keywords : Non-invasive prenatal test, Trisomy, Cell-free DNA, Fetal DNA fraction
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