Objective To analyze the genotypic and phenotypic correlation of fetuses with Williams-Beuren syndrome(WBS)and to provide guidelines for accurate prenatal diagnosis and genetic counseling of WBS fetuses.Methods Chromosomal microarray analysis(CMA)was performed on pregnant women undergoing prenatal diagnosis,while the published literature on prenatal diagnosis of WBS was searched and the results of CMA and fetal ultrasound information were analyzed.Results 4 cases of 7q11.23 microdeletion were diagnosed in 1574 prenatal diagnostic samples,and the size of CNV fragments ranged from 1.43 to 1.66 Mb,affecting 35to 41 genes,respectively,and all deletions contained ELN genes;1 case had anomaly of the pulmonary artery,1 case showed polycystic kidney dysplasia combined with a small degree of tricuspid regurgitation,and two fetuses had no significant ultrasound abnormalities and were only diagnosed prenatally only because of high risk for NIPT.Literature review and analysis of the ultrasound status of 98 prenatally diagnosed fetuses with WBS revealed that the most common ultrasound phenotypes were intrauterine growth retardation(59.8％,58/98),cardiovascular anomalies(39.8％),polyhydramnios(12.24％,12/98),and short femur length(11.22％,11/98),in addition,the detection rate of fetal polycystic kidney in WBS is approximately 3.06％(3/98).Conclusion The ultrasound phenotype of WBS fetuses in the prenatal period maybe atypical,or even some fetuses do not have obvious ultrasound abnormalities in early pregnancy,and a combination of other factors,such as NIPT,may be helpful in the early diagnosis of fetal WBS disease.
维普
万方数据