摘要
目的:为了检测来自十所医院的医学诊断实验室的190277位临床样本中21,18,13的三染色体细胞。 方法:本研究通过使用半导体序列技术和非侵入性产前测试临床试验检测了190277位临床受试者中21,18,13三染色体细胞。 结果:NIPT受试者平均妊娠周期为17.79周,平均年龄31.12岁,同时进行测试。有1543(0.81%)阳性例子,包括1050例21三染色体细胞,316例18三染色体细胞,177例13三染色体细胞。结合三者整体敏感性和特异性分别为99.61%和99.91%,整体阳性预测值和阴性预测值分别是89.74%和99.99%。 结论:这是在半导体序列技术在NIPT应用上首次大型临床研究。我们的发现表明NIPT具有代替血清生化筛选并且用于9-12周早期妊娠的可能。
关键词: 非侵入性产前测试(NIPT);临床试验;三染色体细胞;拷贝数变异(CNVs);假阴性;嵌合体
Current Molecular Medicine
Title:Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient Samples
Volume: 16 Issue: 8
Author(s): H. Hu, H. Liu, C. Peng, T. Deng, X. Fu, C. Chung, E. Zhang, C. Lu, K. Zhang, Z. Liang, Y. Yang
Affiliation:
关键词: 非侵入性产前测试(NIPT);临床试验;三染色体细胞;拷贝数变异(CNVs);假阴性;嵌合体
摘要: Objectives: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals.
Methods: 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.
Results: 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.
Conclusions: 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.
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Cite this article as:
H. Hu, H. Liu, C. Peng, T. Deng, X. Fu, C. Chung, E. Zhang, C. Lu, K. Zhang, Z. Liang, Y. Yang , Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient Samples, Current Molecular Medicine 2016; 16 (8) . https://dx.doi.org/10.2174/1566524016666161013142335
DOI https://dx.doi.org/10.2174/1566524016666161013142335 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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