半面阳光
(2023-09-30 19:16):
#paper DOI:https://doi.org/10.3390/genes12040478,Genes,2021,Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities:A Prospective Study from a Less Developed Autonomous Region in Mainland China. 拓展的NIPT检测,即除了检测21,18和13三条常见染色体三体异常之外,拓展到检测性染色体、其他常染色体的检测,乃至一些拷贝数异常的检测。这篇文章收集了86262例单胎妊娠的NIPT受检样本,其中86193例样本能够获得检测结果。这篇文章最主要的意义是将这8万例受检样本按照人群特征进行分类,并统计计算了不同人群中,NIPT检测检出常见三种染色体三体、不常见的常染色体三体、性染色体异常以及CNV的PPV、NPV、检测的敏感性特异性等统计数据。这给临床检测中应用拓展性NIPT技术提供了参考依据。
Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
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Abstract:
To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.
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