生殖医学杂志2024，Vol.33Issue(6)：739-744,6.DOI:10.3969/j.issn.1004-3845.2024.06.007
388例骨骼发育异常胎儿遗传学分析
Genetic analysis of 388 fetuses with skeletal dysplasia
摘要
Abstract
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.关键词
骨骼发育异常/染色体异常/染色体核型分析/单核苷酸多态性微阵列/遗传学分析Key words
Skeletal dysplasia/Chromosomal abnormalities/Chromosome karyotype analysis/Single nucleotide polymorphism array/Genetic analysis分类
临床医学引用本文复制引用
玉晋武,欧阳鲁平,黄朋,苏家荪,杨祚建,易赏,罗静思..388例骨骼发育异常胎儿遗传学分析[J].生殖医学杂志,2024,33(6):739-744,6.基金项目
广西医疗卫生适宜技术开发与推广应用项目(S2020060) （S2020060）
