Case series highlights genetic testing effectiveness in understanding fetal anomalies post termination.
Key Points
This study aims to examine how genetic testing of fetal tissues after mid-trimester termination can identify causes of anomalies and inform future pregnancies.
Case series of six pregnancies with ultrasonographic fetal anomalies and a history of miscarriages.
Fetal tissue was collected after mid-trimester pregnancy termination for genetic testing.
Testing included chromosomal microarray analysis (CMA), whole exome sequencing (WES), whole genome sequencing (WGS), and single-gene/panel testing.
Identification of pathogenic or likely pathogenic causes was successful in 4 out of 6 families.
Two families underwent comprehensive testing, which resulted in no pathogenic findings.