Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia

Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical genetic heterogeneity. Several types have prenatal phenotypes, it difficult to make molecular diagnosis rapidly. In this study, the cause 16 Chinese fetuses skeletal were analyzed, 12 cases yielded positive results including one deletion in DMD gene detected by SNP-array 14 variants other 6 genes whole exome sequencing (WES). addition, somatic mosaicism was observed. Our study expanded pathogenic variant spectrum elucidated utilization WES improving yield dysplasia.