Analysis the application of whole exome sequencing in fetuses with normal chromosome but abnormal ultrasound
Objective Through the WES analysis of the fetuses with normal chromosome but abnormal ultrasound.To investigate the correlation between abnormal ultrasound phenotype and genotype,and to conduct clinical decision-making.Methods A total of 87 cases were included in the study.Abnormal chromosome karyotype and copy number variation were excluded.The DNA of fetal villus,amniotic fluid,umbilical cord blood and peripheral blood of parents were detected by WES and the results were analyzed statistically.Results Pathogenic/likely pathogenic variation was detected in 23 of the 87 samples,the overall positive diagnosis rate was 26.44％(23/87).It is significance between single system abnormality and multi-system abnormality(P=0.034).The diagnostic rates were 22.37％(17/76)and 54.55％(6/11).In the specific system,the positive di-agnosis rate of skeletal system and cranial system was higher,were 53.33％(8/15)and 27.27％(3/11),and the diagnosis rate of recurrent fetal abnormalities was higher(71.43％),both of which were autosomal recessive genetic diseases.Conclusion WES is an effective tool for the detection of fetal abnormalities.The detection rate of WES depends on different fetal system in-volvement,and the positive diagnosis rate of recurrent fetal abnormalities,multi-system and skeletal system abnormalities is higher.In clinical practice,case preselection can be optimized through multidisciplinary discussion and so on,carefully con-sider the selection of cases to maximize its role in clinical application,and improve the detection rate of pathogenic genes.
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