Clinical Utility of Expanded Noninvasive Prenatal Screening and Chromosomal Microarray Analysis in High Risk Pregnancies
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摘要Objective
To evaluate the utility of expanded noninvasive prenatal screening (NIPS) for detection of chromosomal abnormalities in high‐risk pregnancies compared with chromosomal microarray analysis (CMA).
Methods
This is a multicenter retrospective study of singleton high‐risk pregnancies for chromosomal abnormalities. Subjects who underwent expanded NIPS and CMA sequentially during pregnancy from 2015 through 2019 were included in the analysis. The utilities of expanded NIPS and CMA in this cohort were compared.
Results
Of the 943 high‐risk pregnancies, 550 (58.3%) cases had positive NIPS results, while positive CMA results were detected in 308 (32.7%) cases. The concordance rates between NIPS and CMA were 82.3%, 59.6% and 25.0% for trisomy 21, 18 and 13, respectively. For rare aneuploidies and segmental imbalances, NIPS and CMA results were concordant in 7.5% and 33.3% of cases. CNVs smaller than 5Mb were more prominently detected by CMA, with an incidence of 6.5% (61/943) compared to that of 2.6% (24/943) by NIPS. Additional genetic aberrations were detected by CMA in 1 of 17 high‐risk pregnancies who were given a negative or non‐reportable NIPS result.
Conclusion
CMA allows for comprehensive detection of genome‐wide chromosomal abnormalities in high‐risk pregnancies. Instead of expanded NIPS, CMA should be offered for high‐risk pregnancies.
出版社接受日期13.03.2020
著者Zhu Xiaofan, Chen Min, Wang Huilin, Guo Yilin, Chau Matthew Hoi Kin, Yan Huanchen, Cao Ye, Kwok Yvonne Ka Yin, Jingsi Chen, Hui Annie Shuk Yi, Zhang Rui, Meng Zhuo, Zhu Yuanfang, Leung Tak Yeung, Xiong Likuan, Kong Xiangdong, Choy Kwong Wai
期刊名稱Ultrasound in Obstetrics and Gynaecology
出版年份2020
出版社Wiley
國際標準期刊號0960-7692
電子國際標準期刊號1469-0705
語言英式英語

上次更新時間 2020-21-09 於 00:28