Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy
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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).
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.
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.
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.
Acceptance Date13/03/2020
All Author(s) ListZhu 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
Journal nameUltrasound in Obstetrics and Gynaecology
Volume Number57
Issue Number3
Pages459 - 465
LanguagesEnglish-United Kingdom

Last updated on 2021-13-10 at 23:59