학술논문
Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
이용수 6
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- So Yeon Hong So Hyun Shim Hee Jin Park Sung Shin Shim Ji Youn Kim Yeon Kyung Cho Soo Hyun Kim Dong Hyun Cha
- 간행물 정보
- 『대한의학유전학회지』제17권 제1호, 11~15쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2020.06.30
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국문 초록
영문 초록
Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single cen-ter and conἀrm their efἀcacy and reliability. In addition, we aimed to conἀrm the changes in the number of invasive tests per-formed 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 re-sults 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 speciἀc due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.
목차
Introduction
Materials and Methods
Results
Discussion
References
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