BGI-Shenzhen, Shenzhen, China.
Prenat Diagn. 2012 Dec;32(13):1225-32. doi: 10.1002/pd.4002. Epub 2012 Nov 9.
To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.
The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11,263 participants were recruited and the MPS-based test was performed in 11,105 pregnancies. Fetal outcome data were obtained after the expected date of confinement.
One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18.
Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures.
报告在中国常规临床环境下，基于母体血浆游离 DNA 测序的大规模平行测序（MPS）进行产前非侵入性胎儿三体检测的性能。
在 2 年期间，MPS 检测被作为 49 家医疗中心的唐氏综合征 21 号和 18 号三体的产前筛查检测提供给孕妇。共招募了 11263 名参与者，对 11105 例妊娠进行了 MPS 检测。在预计分娩日期后获得胎儿结局数据。
190 例被归类为阳性，其中包括 143 例 21 三体和 47 例 18 三体。根据核型分析结果和胎儿结局数据的反馈，我们观察到 1 例 21 三体假阳性病例，1 例 18 三体假阳性病例，无假阴性病例，表明对 21 三体和 18 三体的检测灵敏度为 100%，特异性为 99.96%。
我们的大规模多中心研究证明，基于 MPS 的检测在检测胎儿 21 三体和 18 三体方面具有较高的灵敏度和特异性。将这种筛查检测引入常规临床环境可避免约 98%的有创性产前诊断程序。
