Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.

Objectives: With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined the correlation between the results of chromosomal microarray analysis (CMA) and WES in pregnant women, as compared to conventional karyotype analysis and ultrasound (US) findings. Methods: Fetal US were performed on pregnant females referred to our clinic with suspected fetal anomalies, as well as those who had anomalies detected by targeted US. Comprehensive counseling was provided to all parents. Karyotyping, CMA, and WES were offered for all fetuses through amniocentesis, CVS, and cordocentesis. We compared the demographic data and ultrasound findings of pregnant females with normal and abnormal WES results. Results: WES results indicated a normal karyotype in 14 pregnant females and an abnormal karyotype in 12 pregnant females. CMA showed an abnormal karyotype in three of the pregnant females, whose WES results were normal. US findings were more frequently observed in pregnant females with abnormal WES results. Conclusions: Among the organ systems, the cardiac system is at the highest risk for anomalies. The risk further increases when multiple system anomalies are present. Incorporating WES alongside CMA may enhance diagnostic accuracy and be beneficial for subsequent pregnancies. Our US results do not align with the existing literature, and further evaluations with larger patient populations are needed to reconcile these findings with current research.