Author:
Cai Meiying,Lin Na,Su Linjuan,Wu Xiaoqing,Xie Xiaorui,Li Ying,Lin Yuan,Xu Liangpu,Huang Hailong
Abstract
AbstractMany fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. We attempted to explore the relationship between types of ultrasonically abnormal late pregnancy fetuses and CNVs. Fetuses (n = 713) with ultrasound-detected abnormalities in late pregnancy and normal karyotypes were analyzed. Of these, 237 showed fetal sonographic structural malformations and 476 showed fetal non-structural abnormalities. Single nucleotide polymorphism (SNP)-based chromosomal microarray (CMA) was performed on the Affymetrix CytoScan HD platform. Using the SNP array, abnormal CNVs were detected in 8.0% (57/713) of the cases, with pathogenic CNVs in 32 cases and variants of uncertain clinical significance (VUS) in 25 cases. The detection rate of abnormal CNVs in fetuses with sonographic structural malformations (12.7%, 30/237) was significantly higher (P = 0.001) than that in the fetuses with non-structural abnormalities (5.7%, 27/476). Overall, we observed that when fetal sonographic structural malformations or non-structural abnormalities occurred in the third trimester of pregnancy, the use of SNP analysis could improve the accuracy of prenatal diagnosis and reduce the rate of pregnancy termination.
Funder
the Key Clinical Specialty Discipline Construction Program of Fujian
the Key Special Projects of Fujian Provincial Department of Science and Technology
the Fujian Provincial Natural Science Foundation
Publisher
Springer Science and Business Media LLC
Reference28 articles.
1. Yi, J.-L., Zhang, W., Meng, D.-H., Ren, L.-J. & Wei, Y.-L. Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. J. Int. Med. Res. 47, 030006051985340 (2019).
2. Hu, J., Qian, Y., Sun, Y., Yu, J. & Dong, M. Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation. J. Zhejiang Univ. Med. Sci. 48, 420–428 (2019).
3. Fangbo, Q. & Ye, S. Application of whole-genome chromosomal microarray analysis in genetic diagnosis of spontaneous miscarriages and stillbirths. Acta Univ. Med. Nanjing (Nat. Sci.) 11, 1–10 (2018).
4. Jang, W. et al. Chromosomal microarray analysis as a first-tier clinical diagnostic test in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: A prospective multicenter study in Korea. Ann. Lab. Med. 39, 299–310 (2019).
5. Tanvisut, R. et al. Cordocentesis-associated fetal loss and risk factors: Experience of 6650 cases from a single center. Ultrasound Obstet. Gynecol. https://doi.org/10.1002/uog.21980 (2020).
Cited by
13 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献