Genetic testing aids diagnosis in post mid-trimester pregnancy termination of anomalous fetuses

Objective Congenital anomalies affect about 2-3% of pregnancies of which 20% is likely to have genetic causes. Identifying the cause of fetal anomaly contributes significantly to successful genetic counseling for future pregnancies. This study aims to highlight the effectiveness of genetic testing of fetal tissues after mid-trimester pregnancy termination (MTPT) in deciphering the cause of fetal anomaly, predicting the risk of recurrence of anomalies in future pregnancy while also providing closure to the parents. Method This study is a case series of six pregnancies with fetal anomalies detected on ultrasonogram (n=5), and/or history of miscarriages (n=4), and planned for MTPT. Fetal tissue was collected after MTPT and appropriate genetic testing (CMA and/or WES/WGS and/or single gene/panel testing) was done based on the fetal anomaly. Result Testing resulted in identification of pathogenic or likely pathogenic cause for 4 out of 6 families. The remaining 2 families underwent comprehensive genetic testing, including single-gene or gene panel analysis, CMA, WES/WGS, and other relevant investigations, which did not yield any pathogenic findings. Conclusion In this case series, genetic evaluation of products of conception yielded a diagnosis in 4 out of 6 families, highlighting value of post termination genetic testing in couples with fetal anomalies.