染色体荧光原位杂交快速产前诊断染色体数目异常

目的探讨产前诊断常见染色体数目异常的技术策略。方法 2010年4月-2012年8月来我院产科门诊进行产前诊断的孕妇,常规穿刺采集羊水或脐带血样本,同时采用常规的染色体核型和荧光原位杂交（fluorescence in situ hybridization,FISH）方法进行检测,比较两种方法的产前诊断结果。结果染色体核型分析报告时间平均为4~5周,494例羊水或脐血样本中有2例分析失败;总染色体异常为8.74%（43/492）;数目异常占异常总数的81.40%（35/43）,结构异常占18.60%（8/43）。在数目异常中,21三体占74.29%（26/35）,18三体17.14%（6/35）,性染色体数目异常8.57%（3/35）。染色体荧光原位杂交报告时间平均为72~96 h;染色体数目异常为7.09%（35/494）,21三体占数目异常的74.29%（26/35）,18三体17.14%（6/35）,性染色体数目异常8.57%（3/35）,对于染色体数目异常的分析结果与核型分析结果一致。FISH未能检出染色体结构异常。结论针对常见的染色体数目异常（21三体、18三体、13三体、性染色体单体或三体）,FISH可直接进行产前诊断;FISH联合染色体核型分析是较全面了解染色体畸形的产前诊断技术策略。

Rapid prenatal diagnosis of abnormal chromosomes by fluorescence in situ hybridization

Objective To study the techniques for prenatal diagnosis of abnormal chromosomes.Methods Amniotic fluid or umbilical cord blood samples were taken from pregnant women who visited our department from April 2010 to August 2012.Their prenatal abnormal chromosomes were diagnosed by fluorescence in situ hybridization（FISH） and routine chromosome karyotyping,respectively,and compared.Results The average time of chromosome karyotype analysis was 4-5 weeks.Of the 492 amniotic fluid or umbilical cord blood samples that were analyzed,2 were failed.The chromosome karyotype analysis showed that the total abnormal chromosomes accounted for 8.74%（43/492）,the abnormal chromosomes accounted for 81.40% of the total abnormal chromosomes（35/43）,the chromosomes with abnormal structures accounted for 18.60%（8/43）,the trisomes 21 and 18 accounted for 74.29%（26/35） and 17.14%（6/35） respectively,the abnormal sex chromosomes accounted for 8.57%（3/35）.The average time of FISH was 72-96 h.The FISH showed that the abnormal chromosomes accounted for 7.09%（35/494）,and the trisomes 21 and 18 accounted for 74.29%（26/35）and 17.14%（6/35） respectively,and the abnormal sex chromosomes accounted for 8.57%（3/35）,which were consistent with those of chromosome karyotype analysis.No abnormal chromosome structure was detected by FISH.Conclusion FISH can diagnose the prenatal abnormal trisomes 21,18,13 and sex chromosome monosome and trisome.FISH in combination with chromosome karotype analysis is strategy for understanding the chromosome.