Abstract
OBJECTIVE: This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort. METHODS: A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal diagnosis center of the International Peace Maternity and Child Health Hospital between January 2018 and December 2022 were retrospectively analyzed. All of them underwent chromosomal microarray analysis (CMA) and karyotype analysis, but only 27 underwent whole-exome sequencing (WES). The results of these different genetic testing methods were collected and compared. Data on pregnancy outcomes and neonate prognosis were obtained from the electronic medical records and postpartum telephone follow-up. RESULTS: Among the 146 fetuses with CTD, the chromosome abnormality rate was 22.6% (33/146), and the detection rate of abnormal chromosomes in CMA and karyotype was 15.8% (23/146). Among the 27 pregnant women who accepted WES, five had pathogenic variants. The detection rate of abnormal chromosomes by CMA was higher in infants with an interrupted aortic arch (IAA) than in the other infant groups (60.0%, χ(2) = 11.661, P = 0.045, c(2)-test or Fisher's exact test). CONCLUSION: Congenital heart disease is a complex congenital heart disease with an etiology closely related to genetic abnormalities. Therefore, invasive genetic testing and CMA are recommended as first-line tests for all fetuses with CTD detected by prenatal ultrasound, especially IAA. WES should be recommended when necessary.