J Lab Med Qual Assur.  2015 Dec;37(4):214-218. 10.15263/jlmqa.2015.37.4.214.

Clinical Study of Non-Invasive Prenatal Testing Using Next-Generation Sequencing

Affiliations
  • 1LabGenomics Clinical Research Institute, Seongnam, Korea. seo2023@nate.com
  • 2LabGenomics Clinical Laboratories, Seongnam, Korea.

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.

Keyword

Non-invasive prenatal test; Trisomy; Cell-free DNA; Fetal DNA fraction

MeSH Terms

Amniocentesis
Aneuploidy
Chromosome Aberrations
DNA
Down Syndrome
Genome
Prenatal Diagnosis
Trisomy
DNA
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