23例股骨短胎儿的产前诊断及临床分析  

Clinical analysis and prenatal diagnosis of 23 cases with short fetal femur

作　　者：董兴盛[1] 江陵[1] 陆林苑[1] 王李洁[1] 王德刚[1] DONG Xing-Sheng;JIANG Ling;LU Lin-Yuan(Prenatal Diagnosis Center, Zhongshan Boai Hospital, Zhongshan, Guangdong 528403, Chin)

机构地区：[1]中山市博爱医院产前诊断中心,广东中山528403

出　　处：《中国妇幼保健》2018年第9期2070-2072,共3页Maternal and Child Health Care of China

基　　金：中山市科技计划项目(2015B1171)

摘　　要：目的分析股骨短胎儿的临床特征,探讨胎儿股骨短的病因及临床处理方案,为该类胎儿的围生期管理提供参考。方法收集2014年4月-2017年6月因胎儿股骨短在该院就诊孕妇23例的临床资料,通过介入性产前诊断获取胎儿标本,对胎儿进行染色体核型分析及染色体微阵列检测,同时行Sanger测序检测胎儿是否存在软骨发育不全的致病基因FGFR3基因c.1138G>A突变。结果 23例妊娠晚期股骨短胎儿中,8例胎儿(34.8%)遗传学检测结果异常,其中4例21-三体综合征,1例18-三体综合征,1例发现胎儿SHOX基因缺失导致Leri-Weill综合征,2例检测发现FGFR3基因c.1138G>A突变确诊胎儿软骨发育不全。染色体异常胎儿、软骨发育不全胎儿及孤立性股骨短胎儿的股骨长z值分别为-3.09(-2.4^-7.5)、-5.16(-5^-5.33)和-3.11(-2.5^-6.66)。结论对于股骨短胎儿需行介入性产前诊断获取胎儿标本进行遗传学检测。胎儿股骨短的病因复杂,胎儿股骨短合并其他超声结构异常时需排除染色体数目异常;胎儿股骨长明显缩短,合并头围增大、股骨弯曲时需警惕软骨发育不全。Objective To analyze the clinical features of fetuses with short femur,explore the etiology and clinical treatment,provide a reference for perinatal management of these fetuses. Methods From April 2014 to June 2017,the clinical data of 23 pregnant women with short fetal femur from Zhongshan Boai Hospital was collected,fetal samples were obtained by interventional prenatal diagnosis,then chromosomal karyotyping and chromosomal microarray detection were perfomed,Sanger sequencing was used to detect FGFR3 c. 1138 G〉A mutation which was the pathogenic gene of achondroplasia. Results Among 23 fetuses with short femur during the third trimester of pregnancy,8 fetuses(34. 8%） were found with abnormal genetic results,including four fetuses with trisomy 21 syndrome,one fetus with trisomy 18 syndrome,one fetus with Leri-Weill syndrome induced by SHOX gene deletion,and two fetuses with FGFR3 c. 1138 G〉A mutation(achondroplasia）. Z values of fetuses with chromosomal abnormalities,achondroplasia,isolated short femur were-3. 09（-2. 4--7. 5）,-5. 16（-5--5. 33）,and-3. 11（-2. 5--6. 66）,respectively. Conclusion For the fetuses with short femur,interventional prenatal diagnosis should be performed to obtain fetal samples and conduct genetic detection,the causes of short fetal femur are complicated. When the fetuses are found with short femur combined with other ultrasound structural abnormalities,chromosomal numerical abnormality should be excluded.When the fetuses are found with significant short femur combined with increased head circumference and crooked femur,achondroplasia should be paid more attention to.

关 键 词：股骨短 染色体异常 软骨发育不全 成纤维细胞生长因子受体3基因 

分 类 号：R714.5[医药卫生—妇产科学]