山西医科大学学报2018，Vol.49Issue(6)：709-713,5.DOI:10.13753/j.issn.1007-6611.2018.06.025
胎儿股骨短小的产前诊断及胎儿预后分析
Prenatal diagnosis and prognosis of fetal short femurs
徐盈 1宋婷婷 1张玲 1郑娇 1徐慧 1程璐 1陈必良 1张建芳1
作者信息
- 1. 空军军医大学第一附属医院妇产科,西安710032
- 折叠
摘要
Abstract
Objective To explore the clinical value of prenatal genetic diagnosis of fetal short femurs. Methods G banding chromo-somal karyptype analysis,gene-microarray and FGFR3 mutation detection were performed in 25 cases of fetal short femurs. And the fe-tal development was regularly inspected. Results In 25 cases of short femurs,there were 2 cases of trisomy 21 syndrome,1 case of pathogenic CNVs,4 cases of FGFR3 gene c. 1138G＞A(p. Gly380Arg)mutation,10 cases of inducing abortion (7 cases of abnormal genetic diagnosis results,1 case of intrauterine hypoxia,and 2 cases of severe long bone short),12 cases of delivery at term,and 3 cases of loss to follow-up. Conclusion Short fetal femur is related to many factors. Clinical presentation,regular ultrasound and pre-natal gene diagnosis are important to assess risk and genetic counseling of fetuses with short femurs.关键词
股骨短小/染色体核型分析/拷贝数变异/遗传咨询/胎儿Key words
short femurs/karyptype analysis/copy number variations/genetic counseling/fetus分类
医药卫生引用本文复制引用
徐盈,宋婷婷,张玲,郑娇,徐慧,程璐,陈必良,张建芳..胎儿股骨短小的产前诊断及胎儿预后分析[J].山西医科大学学报,2018,49(6):709-713,5.
