388例骨骼发育异常胎儿遗传学分析OACSTPCD

Objective:To explore the genetic factors of fetal skeletal dysplasia and its role in the development of fetal skeletal dysplasia. Methods:From January 2016 to December 2022,388 fetuses with skeletal dysplasia and with or without other institutional abnormalities indicated by ultrasonography were selected from the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.The clinical data of 388 fetuses were retrospectively analyzed,and the results of chromosome karyotype analysis and single nucleotide polymorphism(SNP)array detection were statistically analyzed. Results:Among the prenatal samples of 388 pregnant women with fetal skeletal dysplasia,20 cases were found abnormal by chromosome karyotype analysis,and the abnormal detection rate was 5.2％(20/388).Fifty-six cases were found abnormal by SNP array detected,with 14.4％(56/388)of the abnormal detection rate.In 56 abnormal fetuses detected by SNP array,19 fetuses had abnormal chromosomal karyotyping results,while the other 37 fetuses had normal results.Twelve of 37 fetuses with normal karyotype analysis results and abnormal SNP array results were pathogenic copy number variations(CNVs)with 3.1％(12/388)of the detection rate,and 25 of them were CNVs with unknown clinical significance. Conclusions:When ultrasound examination indicates abnormal fetal skeletal development,it should be paid attention to a risk of chromosomal abnormalities.Interventional prenatal diagnosis is recommended for determining whether the fetus has pathogenic genetic defects and provide references for clinical genetic counseling.