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.
Highlights
In 2017, there were about 360,000 newborn babies in South Korea
The results may vary depending on the analytical methods, many studies have reported that noninvasive prenatal testing (NIPT) introduces a higher sensitivity and specificity than the conventional first trimester screening (FTS) [4] [5] [6]
NIPT was performed as a screening service for a total of 7910 pregnant women, including 7792 singleton and 118 twin pregnancies
Summary
Traditional invasive methods of fetus prenatal screening, e.g. amniocentesis and chorionic villus sampling, have a high miscarriage risk as well as low detection rate of 50% - 95% at a 5% false-positive rate. Recent technology advancement in Generation Sequencing (NGS) and Bioinformatics led to a novel Non-Invasive Prenatal Test (NIPT) method to analyze fetus aneuploidy using cell-free DNA (cfDNA) in the plasma of pregnant women. Sequence reads are mapped to the human reference genome and used to calculate z-score after normalizing [7]. A proper data normalization, fetal fraction detection and better z-score calculation algorithm is required to reduce such false results
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