Application of chromosome karyotype combined with chromosome microarray analysis sequential whole exome sequencing in the prenatal diagnosis of fetal congenital heart disease
Wang Pei, Wan Yang, Lyu Yan, et al
1. Department of Obstetrics, Fuyang People's Hospital, Anhui, Fuyang 236000, China; 2.Obstetrics Center, Peking Union Medical College Hospital, Beijing 100730, China
Abstract: 【Abstract】 Objective To explore the application of chromosome karyotype combined with chromosome microarray analysis (CMA) sequential whole exome sequencing (WES) strategy in the prenatal diagnosis of congenital heart disease (CHD). Method 64 cases of fetal CHD diagnosed by prenatal ultrasound in Fuyang people's Hospital from January 1, 2019 to December 31, 2022 were included and divided into three groups: single cardiac structural malformation group (Group Ⅰ, n=7), complex congenital heart disease group (Group Ⅱ, n=41) and intracardiac combined extracardiac malformation group (Group Ⅲ, n=16). All cases were submitted for chromosomal karyotype analysis and CMA. When the test results could not provide clear clinical significance for diagnosis, WES was performed sequentially. The ultrasound findings, prenatal diagnosis results and pregnancy outcomes of three groups were analyzed retrospectively. Result Among the 64 cases of fetal CHD, the total detection rate of genetic abnormalities was 25.0% (16/64). The detection rates of single cardiac structural malformation group, complex congenital heart disease group and intracardiac combined extracardiac malformation group were 57.1% (4/7), 12.2% (5/41) and 43.8% (7/16), respectively.The detection rates of chromosome karyotype analysis, CMA, and WES were 12.5% (8/64), 7.8% (5/64) and 4.7% (3/64), respectively. Conclusion The standard prenatal genetic diagnosis of chromosome karyotypecombined with CMA should be carried out for fetal CHD detected by prenatal ultrasound. For cases with negative results, WES testing should be carried out in sequence to comprehensive evaluate the genetic etiology of CHD.
2023, Vol. 11 
