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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AbstractTo 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.
Acceptance Date19/03/2021
All Author(s) ListLai Yunli, Zhu Xiaofan, He Sheng, Dong Zirui, Tang Yanqing, Xu Fuben, Chen Yun, Meng Lintao, Tao Yuli, Yi Shang, Su Jiasun, Huang Hongqian, Luo Jingsi, Leung Tak Yeung, Wei Hongwei
Journal nameGenes
Volume Number12
Issue Number4
Article number478
LanguagesEnglish-United Kingdom
Keywordsnoninvasive prenatal screening, cell-free DNA, common aneuploidies, rare chromosomal abnormalities, less developed region, follow-up information

Last updated on 2021-15-06 at 00:06