2012-2015年双胎染色体产前诊断127例结果分析

Analysis of chromosome prenatal diagnosis results of 127 twin pregnancies between 2012 and 2015

目的分析2012-2015年127例双胎染色体产前诊断结果。方法回顾性分析2012年1月至2015年12月该院产前诊断与遗传病诊断科行双胎侵入性产前诊断的127例孕妇的相关资料，分析其指征、结果及妊娠结局。结果127倒孕妇中接受羊膜腔穿刺118例，脐静脉穿刺9例，实际产前诊断胎儿数251例。产前诊断指征中血清学筛查高风险或高龄占71．65％（21／127）。胎儿染色体核型分析异常10例（19例胎儿），染色体异常率为7．87％（10／127）；染色体核型多态改变10例（20例胎儿）。结论双胎侵入性产前诊断是产前发现染色体异常胎儿安全、有效的手段，在有效避免缺陷儿出生方面具有实用价值。

Objective To analyze the results of prenatal diagnosis of 127 cases of twins between 2012 and 2015. Methods A retro- spective analysis was conducted in 127 cases of prenatal diagnosis of prenatal diagnosis and genetic diseases in the first affiliated hospital of Guangxi medical university from January 2012 to Dec 2015. Results There were 118 cases of amniotic cavity puncture, of which there were 9 cases of umbilical vein puncture,and the number of fetuses in the actual prenatal diagnosis was 251. The risk of serological screening was 71.65%（21/127） in prenatal diagnosis. 10 cases（19 fetuses） had abnormal karyotype analysis,the ab- normal rate of chromosome was（10/127） ,and the other 10 cases（20 fetuses） were polymorphic. Conclusion Invasive prenatal diag- nosis is a safe and effective method for prenatal detection of fetal chromosomal abnormalities.