Author(s)

Seon Young Yun, Hyuk Jung Kwon, Amit Goyal, Katiyar P. Shashank, Heesu Im, Joungsu Joo, Jin-Sik Bae, Min Seob Lee, Sunghoon Lee^*

EONE-DIAGNOMICS Genome Center (EDGC), Incheon, South Korea.

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 1^st of November 2015 to 18^th 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.

Cell-Free DNA, Trisomy, Clinical Performance, Mosaicism, CPM, Fetal Abnormality, Noninvasive Prenatal Testing, NIPT

Yun, S. , Kwon, H. , Goyal, A. , Shashank, K. , Im, H. , Joo, J. , Bae, J. , Lee, M. and Lee, S. (2018) Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies. Open Journal of Genetics, 8, 42-53. doi: 10.4236/ojgen.2018.83005.