(208) Next generation sequencing application in congenital fetal anomalies

Objective: The purpose of this study is to investigate the diagnostic yiled of the application of NGS for fetuses with congenital anomalies.

Study Design: Retrosective review of 32 fetuses with congenital anomalies with normal karyotype and negative chromosomal microarray results underwent NGS. The detected variants were classified as pathogenic, likely pathogenic, of uncertain significance, likely benign or benign, following the guidelines recommended by the American College of Medical Genetics and Genomics.

Results:

The detection rates of targeted NGS for pathogenic and likely pathogenic variations were 14.2% and 4.3%, respectively. The turnaround time of the test was 4 weeks. The likely pathogenic variation was detected on JAG1, which is associated with tetralogy of Fallot and Alagille syndrome. Variations of uncertain significance were detected in 78.2% of cases.

Conclusion:

NGS in fetuses with congenital anomalies achieved a high diagnostic yield, with an acceptable turnaround time for the prenatal setting.