TITLE:
Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies
AUTHORS:
Seon Young Yun, Hyuk Jung Kwon, Amit Goyal, Katiyar P. Shashank, Heesu Im, Joungsu Joo, Jin-Sik Bae, Min Seob Lee, Sunghoon Lee
KEYWORDS:
Cell-Free DNA, Trisomy, Clinical Performance, Mosaicism, CPM, Fetal Abnormality, Noninvasive Prenatal Testing, NIPT
JOURNAL NAME:
Open Journal of Genetics,
Vol.8 No.3,
August
24,
2018
ABSTRACT: Objective: The purpose of this study is to review the clinical experience and
performance of noninvasive prenatal testing (NIPT) method, using cell-free
DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in over 7910
clinical samples from South Korean population. Method: Pregnant women between 1st of November 2015 to 18th of February 2018, with obstetric clinical findings participated in the study. NIPT was performed based on masivelly parallel
sequencing with 0.3× low coverage paired-end sequencing using
cell-free DNA in maternal plasma. Further invasive prenatal testing was
recommended for pregnant women with positive NIPT results. Results: Of the total 7910 participants, 7890 (99.75%) were tested for NIPT and
the remaining 20 (0.25%) were below the Quality Control (QC) standards. T13, T18, XXX, XXY and XYY had 100% of sensitivity,
specificity, positive predictive values (PPV) and accuracy. The overall sensitivity was 100% and specificity, PPV
and accuracy of all chromosomal abnormalities with further validation were 99.92%, 94.25%, and, 99.92% respectively. Conclusion: Our NIPT results showed high positive predictive value for the detection
of autosomal trisomies and sex chromosome aneuploidies in our sample cohort.