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

目的探讨股骨短小胎儿进行产前遗传诊断的临床价值。方法选取25例股骨偏短的胎儿样本,分别应用G显带染色体核型分析,基因芯片和FGFR3基因检测,并定期复查胎儿的发育情况。结果在25例胎儿中,2例为21三体综合征,1例胎儿样本发现致病性的CNVs,4例发现FGFR3基因c.1138G>A(p.Gly380Arg)杂合突变,10例胎儿引产(遗传诊断异常7例,宫内缺氧引产1例,严重长骨偏短2例),12例出生随访发育正常,3例失访。结论胎儿股骨短小与诸多因素相关,通过胎儿临床表现、定期超声随诊及产前基因诊断对股骨短小胎儿进行综合性评估和遗传咨询十分必要。

Objective To explore the clinical value of prenatal genetic diagnosis of fetal short femurs. Methods G banding chromosomal karyptype analysis,gene-microarray and FGFR3 mutation detection were performed in 25 cases of fetal short femurs. And the fetal 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. 1138 G A（ p. Gly380 Arg） 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 prenatal gene diagnosis are important to assess risk and genetic counseling of fetuses with short femurs.