%0 Journal Article %T Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies %A Seon Young Yun %A Hyuk Jung Kwon %A Amit Goyal %A Katiyar P. Shashank %A Heesu Im %A Joungsu Joo %A Jin-Sik Bae %A Min Seob Lee %A Sunghoon Lee %J Open Journal of Genetics %P 42-53 %@ 2162-4461 %D 2018 %I Scientific Research Publishing %R 10.4236/ojgen.2018.83005 %X 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 0.3กม 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 %K Cell-Free DNA %K Trisomy %K Clinical Performance %K Mosaicism %K CPM %K Fetal Abnormality %K Noninvasive Prenatal Testing %K NIPT %U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=86851