Clinical utility of whole exome sequencing in the prenatal diagnosis
with fetuses at risk
Abstract
Purpose: To investigate the clinical utility of whole exome sequencing
(WES) in the prenatal diagnosis with fetuses at risk and variation
information identified by WES. Methods: WES was conducted for 40
families with clinical informed consent, and the overall diagnosis rate
and performance in different subgroups were analyzed. Genetic variants
identified by ES were assessed according to the Mendelian model of
inheritance. Results: Of the 40 prenatal specimens, there were 28 cases
of amniotic fluid, 6 cases of villi and 6 cases of fetal tissues. And
the average gestational age was 19.5±4.8 weeks. It revealed that a total
of 8 pathogenic / likely pathogenic variants were detected which likely
to be associated with the observed fetal anomalies, and the diagnosis
rate was 20% (8/40). Among them, the detection rate of fetal ultrasound
abnormal group could be up to 60% (6/10). All 8 diagnosed cases had
inherited the relevant variants (5 variants were autosomal recessively
inherited and 3 were dominantly inherited disorders). Conclusion: The
application of whole exome sequencing to prenatal diagnosis can improve
the clinical diagnosis rate. WES has the potential to improve the
clinical management of pregnancies and provide risk of recurrence in
future pregnancies. However, further investigation was needed to
maximize clinical usefulness of prenatal WES in the future.