Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
Data Analytics CoE, SK Telecom, Seoul, Korea.
J Korean Med Sci. 2019 Jun 24;34(24):e172. doi: 10.3346/jkms.2019.34.e172.
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population.
This study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis.
Among 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%.
This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.
利用母体血浆中的游离胎儿 DNA 进行非侵入性产前检测（NIPT），以鉴定胎儿非整倍体，该技术在全球范围内得到了广泛应用。本研究旨在评估 NIPT 技术在检测高危胎儿三体 21、18 和 13 方面的临床应用价值。
本研究采用回顾性研究方法，使用 1055 例因染色体异常高风险而接受有创性产前诊断的单胎妊娠孕妇的储存血浆进行研究。NIPT 结果经核型分析证实。
在 1055 例病例中，NIPT 鉴定出 108 例胎儿非整倍体，包括三体 21（n=57）、三体 18（n=42）和三体 13（n=9）。在本研究中，NIPT 对三体 21 的敏感性为 100%，特异性为 99.9%；对三体 18 的敏感性为 92.9%，特异性为 100%；对三体 13 的敏感性为 100%，特异性为 99.9%。总体阳性预测值（PPV）为 98.1%。三体 21、18 和 13 的 PPV 范围为 90.0%至 100%。
本研究表明，我们的 NIPT 技术应用于从孕妇采集的母体 DNA 样本时是可靠和准确的。需要进一步开展大型前瞻性研究，以充分评估 NIPT 的性能。
