孕中期羊水染色体检测及妊娠结局分析

Detection on amniotic fluid chromosome and pregnancy outcome evaluation

目的:分析产前筛查高危孕妇孕中期的羊水染色体核型,探讨出胎儿异常核型出现的类型、发生率及系统超声的相关性,追踪妊娠结局,为产前诊断提供帮助。方法:对2010-2011年652例产检高危孕妇进行羊水穿刺实验,细胞培养及染色体制备,G显带分析核型,产后随防。结果:发现30例异常染色体,异常率为4.60%,其中21-三体12例,18-三体2例,13-三体1例,性染色体异常4例,平衡易位4例,染色体倒位3例,染色体多态4例。结论:21-三体是妊娠中的主要异常核型,对高危孕妇做羊水穿刺行染色体检测是至关重要,同时进行系统B超检测胎儿畸形,对产前诊断工作的准确性及提高优生优育率具有十分重要的意义。

Objective：To analyze amniotic fluid chromosome karyotypes on high risk pregnancy women（HRPW）, investigate the type and the probability of abnormal karyotype, trace the pregnancy outcome and provide suggestion on prenatal diagnosis. Method：Amniotic fluid were extracted from 652 pregnant women （after the 15th week of pregnancy） in the local hospital between the year 2010 and 2011. Then the cells were cultured, chromosome were prepared and karyotypes were analyzed by G-banding. Result：30 abnormal karyotypes were found in 652 HRPW cases, including 12 case of Trisomy 21, 2 of Trisomy 18, 1 of Trisomy 13, 4 of sex chromosome abnormal, 4 of balanced translocation, 3 of chromosome inversion and 4 of chromosome polymorphism. Conclusion：Trisomy 21 was the major chromosome abnormality. It would be crucial to perform amniotic fluid chromosome detection for HRPW during prenatal diagnosis. Type-B ultrasonic would be also extremely important to detect fetal anomaly.