Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases

  • Hong, So Yeon (Department of Obstetrics and Gynecology, CHA Ilsan Medical Center, CHA University) ;
  • Shim, So Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Park, Hee Jin (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Shin (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Kim, Ji Youn (Department of Obstetrics and Gynecology, CHA Ilsan Medical Center, CHA University) ;
  • Cho, Yeon Kyung (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Kim, Soo Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University)
  • Received : 2020.04.13
  • Accepted : 2020.05.27
  • Published : 2020.06.30
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Abstract

Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. Materials and Methods: NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. Results: Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12+1 (9+3 to 27+1) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. Conclusion: NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

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