ORIGINAL RESEARCH article
Front. Genet.
Sec. Human and Medical Genomics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1649253
This article is part of the Research TopicInsights in Human and Medical Genomics 2024View all 7 articles
A retrospective study for diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications
Provisionally accepted
- Jiangxi Maternal and Child Health Hospital, Nanchang, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses with high risk for various conditions on chromosomal abnormalities. Methods:In the study, 8560 clinical samples were collected from pregnant women between Feb 2018 and June 2022, including 75 villus, 7642 amniotic fluid, and 843 umbilical cord blood. All samples were screening for chromosomal abnormalities by both using CMA and karyotyping. This retrospective analysis included 8560 pregnancies with high-risk indications for invasive prenatal diagnosis, mainly included ultrasound anomalies, high-risk for maternal serum screening ( MMS ) , high-risk for non-invasive prenatal tests (NIPT), family history of genetic disorders or birth defects, and advanced maternal age (AMA). All samples were evaluated by invasive CMA. The rate of clinically significant genomic imbalances between the different groups was compared. Results: The success rate of CMA was 99.95% (8556/8560).1037 samples (12.11%, 1037/8560) were presented with chromosomal abnormalities by using CMA, whereas 803 samples (9.38%, 803/8560) were shown with chromosomal abnormalities by using karyotyping. The overall prenatal diagnostic yield was 1040 (12.14%) of 8560 pregnancies. Clinically significant genomic aberrations were identified in 153 (6.21%) of 2463 patients with non-structural ultrasound anomalies, 79(6.38%) of 1238 with structural ultrasound anomalies, 37 (4.26%) of 868 at high-risk for MSS, 395(42.29%) of 934 at high-risk for NIPT, 16 (2.94%) of 544 with a family history, 7 (1.89%) of 369 with AMA, 1 (1.56%) of 64 with history of adverse exposure, 10 (4.46%) of 224 with parental chromosome anomaly and 9 (2.99%) of 301 with other indications. Conclusion: CMA has a better diagnostic value for screening chromosomal abnormalities, especially for those pregnant women with normal karyotypes. The diagnostic yields of CMA for pregnancies with different indications greatly varied. CMA could serve as a first-tier test for structural anomalies, especially multiple anomalies, hydrops fetalis, cystic hygroma and thickened nuchal translucency or nuchal fold.
Keywords: Chromosomal microarray analysis, Copy Number Variations, Prenatal Diagnosis, Genetic counselling, high-risk prenatal indications
Received: 18 Jun 2025; Accepted: 05 Aug 2025.
Copyright: © 2025 Xiao, Xiao, Zhang, Huang, Lu, Yuan, Zou, Yang and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Hui Xiao, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Yongyi Zou, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Bicheng Yang, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Yanqiu Liu, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.