17例骨骼发育异常胎儿的产前诊断与遗传分析  

Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia

作　　者：鲁建央 怀磊 鲁才娟 吴雅枫 朱惠青 詹欣[1] 翟洪波[1] Lu Jianyang;Huai Lei;Lu Caijuan;Wu Yafeng;Zhu Huiqing;Zhan Xin;Zhai Hongbo(Department of Obstetrics,Hangzhou First People’s Hospital Affiliated to Zhejiang University School of Medicine,Hangzhou,Zhejiang 310002,China;Central Laboratory,Hangzhou First People’s Hospital Affiliated to Zhejiang University School of Medicine,Hangzhou,Zhejiang 310002,China)

机构地区：[1]浙江大学医学院附属杭州市第一人民医院产科,310002 [2]浙江大学医学院附属杭州市第一人民医院中心实验室,310002

出　　处：《中华医学遗传学杂志》2020年第11期1217-1221,共5页Chinese Journal of Medical Genetics

基　　金：杭州市科学技术局社会发展项目(20170533B33)。

摘　　要：目的探讨骨骼发育异常胎儿的产前遗传学检测策略。方法收集2015年12月至2019年11月在浙江大学医学院附属杭州市第一人民医院产前超声检查中检出骨骼发育异常并行遗传学检测的17例胎儿的资料,分析遗传学检测结果和妊娠结局。结果12例胎儿股骨长/足底长<0.9,13例通过遗传学检测找到骨骼畸形的病因,包括1例染色体非整倍体、3例致病性微缺失微重复、9例基因变异,涉及FGFR3、COL1A2、GPX4及ALPL基因。结论对产前超声股骨短小的胎儿,在染色体核型和微阵列分析基础上,对FGFR3基因及骨病相关基因进行测序可提高阳性检出率。Objective To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development.Methods Clinical data of 17 fetuses with skeletal dysplasia was collected.The results of genetic testing and outcome of pregnancy were analyzed.Results For 12 fetuses,the femur-to-foot length ratio was less than 0.9.Thirteen fetuses had a positive finding by genetic testing.One fetus was diagnosed with chromosomal aneuploidy,three were diagnosed with microdeletion/microduplications,and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3,COL1A2,GPX4 or ALPL genes.Conclusion For fetuses with skeletal dysplasia characterized by short femur,in addition to chromosomal karyotyping and microarray analysis,sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.

关 键 词：骨骼发育异常 胎儿 产前诊断 遗传学异常 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]