J Korean Med Sci.  2019 Jun;34(24):e172. 10.3346/jkms.2019.34.e172.

Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience

Affiliations
  • 1Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
  • 2Data Analytics CoE, SK Telecom, Seoul, Korea.
  • 3Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
  • 4Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. hmryu@yahoo.com

Abstract

BACKGROUND
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population.
METHODS
This study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis.
RESULTS
Among 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%.
CONCLUSION
This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.

Keyword

Prenatal Screening; Cell-free DNA; Massively Parallel Sequencing

MeSH Terms

Aneuploidy*
Chromosome Aberrations
DNA
Down Syndrome
Female
Fetus
High-Throughput Nucleotide Sequencing
Humans
Karyotype
Plasma
Pregnancy
Pregnant Women*
Prenatal Diagnosis
Prospective Studies
Retrospective Studies
Sensitivity and Specificity
Trisomy
DNA
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