Correlation between positive results by WES and clinical phenotypes by ultrasound
Among 79 pregnant women from the third affiliated hospital of Zhengzhou University, China, from August 2018 to April 2020, 25 cases that were positive by WES were detected,whose detection rate was 31.6%.Among these cases, the detection rate of cases with only FL<-4.0SD or only HL<-4.0SD was 41.6% (5/12). The detection rate of cases with both FL<-4.0SD and HL<-4.0SD is 60% (3/5). In cases of -4.0SD<FL<-2.0SD or -4.0SD<HL<-2.0SD, the detection rate by WES was 29.4% (5/17).However,in these cases where exsists -4.0SD<FL<-2.0SD or -4.0SD<HL<-2.0SD, with long bone bending, the detection rate by WES was 100% (2/2). In cases of FL<-2.0SD or HL<-2.0SD, the detection rate by WES is 20% (1/5), where the only one positive case besides FL<-2.0SD and HL<- 2.0SD, there exsists also femoral curvature. In cases with only long bone bending, the detection rate by WES is 50% (2/4). In cases of nasal bone dysplasia, the detection rate by WES is 80% (4/5). It is worth mentioning that cases of only microcephaly have not been detected positive by WES. Only 1 of 9 cases of fetal hand or foot deformity were positive by WES (11.1%).(Table .1)