Hu H, Liu H, Peng C, Deng T, Fu X, Chung C, Zhang E, Lu C, Zhang K, Liang Z, Yang Y
Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92328, USA.
Curr Mol Med. 2016;16(8):759-766. doi: 10.2174/1566524016666161013142335.
To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals.
The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology.
NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing on average. There were 1,543 (0.81%) positive cases, including 1050 for trisomy 21, 316 for trisomy 18, and 177 for trisomy, 13. The overall sensitivity and specificity for detecting trisomy 21, 18 and 13 combined were 99.61% and 99.91% respectively, and the overall positive predictive value and negative predictive value (PPV and NPV) were 89.74% and 99.99%, respectively.
This was the first large clinical study for semiconductor sequencing technologies in NIPT application. Our findings indicate that NIPT has the potential to replace serum biochemistry screening and could be performed at the early gestational age of 9~12 weeks.
在来自十家医院医学诊断实验室的190277份临床样本中检测21三体、18三体和13三体。
本研究使用半导体测序技术评估了无创产前检测（NIPT）在190277份临床样本中检测21三体、18三体和13三体的临床性能。
NIPT参与者检测时平均妊娠17.79周（范围9 - 36周），平均年龄31.12岁（范围18 - 46岁）。共有1543例（0.81%）阳性病例，其中21三体1050例，18三体316例，13三体177例。检测21、18和13三体综合的总体敏感性和特异性分别为99.61%和99.91%，总体阳性预测值和阴性预测值（PPV和NPV）分别为89.74%和99.99%。
这是半导体测序技术在NIPT应用中的首个大型临床研究。我们的研究结果表明，NIPT有潜力取代血清生化筛查，并且可以在妊娠9至12周的早期进行。
