羊水染色体平衡易位在产前诊断中的分析

Analysis of balanced translocation at amniocentesis on prenatal diagnosis

目的:探讨孕妇羊水染色体平衡易位的产前诊断指征分布及妊娠结局,为本地区的优生提供科学依据。方法:选取2011年2月至2015年3月在本院进行羊水染色体核型分析的76例平衡易位病例进行回顾分析。结果:76例病例中产前诊断指征为高龄妊娠38例,夫妇易位携带者20例,唐氏筛查高风险9例,不良孕产史5例,B超结果异常2例及其他原因2例。结论:羊水染色体核型平衡易位者可由于伴随非整倍体异常、新突发X-常染色体易位及复杂易位而导致胎儿畸形。新突发简单易位需依据B超、FISH及array-CGH详细结果给予准确妊娠指导。

Objective To explore the prenatal indications and pregnant outcome of balanced translocation at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cases abnormal serum screening, 5 cases with previous abnormal births, 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy, de novo X-autosome translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal diagnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amniocentesis.