Clinical Study of Non-Invasive Prenatal Testing Using Next-Generation Sequencing
Journal of Laboratory Medicine and Quality Assurance
;
: 214-218, 2015.
Article
in Korean
| WPRIM
| ID: wpr-114116
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Trisomy
/
DNA
/
Chromosome Aberrations
/
Genome
/
Down Syndrome
/
Amniocentesis
/
Aneuploidy
Type of study:
Diagnostic study
/
Prognostic study
Language:
Korean
Journal:
Journal of Laboratory Medicine and Quality Assurance
Year:
2015
Type:
Article
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