2021,
Genes.
DOI:
10.3390/genes12040478
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
Yunli Lai, Xiaofan Zhu, Sheng He, Zirui Dong, Yanqing Tang, Fuben Xu, Yun Chen, Lintao Meng, Yuli Tao, Shang Yi, Jiasun Su, Hongqian Huang, Jingsi Luo, Tak Yeung Leung, Hongwei Wei
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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2023-11-30 22:19:00
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#paper https://doi.org/10.3390/genes12040478, gene, 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. 这篇前瞻性研究论文主要分析研究了NIPT在86193例人群样本中对常见的T21,T18,T13三体异常、性染色体异常以及其他常染色体异常和一些CNVs中的检测效果。相对而言，这篇文章的突出特点是样本量比较大，阳性检出率和阳性预测值等这些检测性能上的参数给出了一定的参考。