Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

Autor: Qing Lu, Laipeng Luo, Baitao Zeng, Haiyan Luo, Xianjin Wang, Lijuan Qiu, Yan Yang, Chuanxin Feng, Jihui Zhou, Yanling Hu, Tingting Huang, Pengpeng Ma, Ting Huang, Kang Xie, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Druh dokumentu: article
ISSN: 1750-1172
DOI: 10.1186/s13023-024-03317-4
Popis: Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray analysis (CMA) in fetuses with different types of CHD, aiming to assist genetic counseling and clinical decision-making. Methods In this study, 642 fetuses with CHD were enrolled from a single center over a six-year period (2017–2022). Both conventional karyotyping and CMA were performed simultaneously on these fetuses. Results The diagnostic yield of CMA in fetuses with CHD in our study was 15.3% (98/642). Our findings revealed a significant increase in the diagnostic yield of CMA compared to karyotyping in fetuses with CHD. Among CHD subgroups, the diagnostic yields were high in complex CHD (34.9%), conotruncal defects (28.6%), right ventricular outflow tract obstructive defects (RVOTO) (25.9%), atrioventricular septal defects (AVSD) (25.0%) and left ventricular outflow tract obstructive defects (LVOTO) (24.1%), while those in other CHD (10.6%) and septal defects (10.9%) were relatively low. The overall detection rate of clinically significant chromosomal abnormalities was significantly higher in the non-isolated CHD group compared to the isolated CHD group (33.1% vs. 9.9%, P
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