Clinical Study of Non-Invasive Prenatal Testing Using Next-Generation Sequencing.
10.15263/jlmqa.2015.37.4.214
- Author:
Dong Hee SEO
1
;
Dae Yeon CHO
;
Jihun KIM
;
So Young KIM
;
Sung Eun CHO
;
Mijin OH
Author Information
1. LabGenomics Clinical Research Institute, Seongnam, Korea. seo2023@nate.com
- Publication Type:Original Article
- Keywords:
Non-invasive prenatal test;
Trisomy;
Cell-free DNA;
Fetal DNA fraction
- MeSH:
Amniocentesis;
Aneuploidy;
Chromosome Aberrations;
DNA;
Down Syndrome;
Genome;
Prenatal Diagnosis;
Trisomy
- From:Journal of Laboratory Medicine and Quality Assurance
2015;37(4):214-218
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
