1775例高危产妇羊水染色体核型分析

Analysis of karyotype of amniotic fluid in 1775 cases of pregnancy

目的分析1 775例高危产妇羊水染色体核型结果,探讨各种类型产前诊断指征的结果异常率及胎儿染色体异常核型的类型、发生频率、临床意义。方法选取2012年1月至2014年12月在该院产前诊断中心进行产前诊断、有产前诊断指征的1 782例产妇进行羊膜腔穿刺术及羊水细胞培养,对获得的1 775例胎儿染色体核型进行分析。结果穿刺失败1例,穿刺成功率为99.94%;羊水培养一次失败12例,成功率为99.33%,6例放弃二次培养,共获得染色体核型分析结果 1 775例。1 775例产妇中共检出各种染色体异常99例,总异常率为5.58%;其中,染色体的数目异常45例(2.54%),其他染色体异常54例(3.04%),含D、G组罗氏易位3例,平衡易位1例,多态50例。染色体多态中,以9号染色体臂间倒位最常见,共16例(32.00%)。结论羊膜腔穿刺及羊水细胞染色体核型分析是目前较为安全、可靠的产前诊断方法。对具有产前诊断指征的高危产妇进行羊水染色体核型分析,可有效减少染色体异常患儿的出生。

Objective To analyze the chromosome karyotypes of 1 775 high-risk maternal amniotic fluids,and to investigate the abnormal rate of various types of prenatal diagnosis indications and the type,frequency and clinical significance of fetal chromosome abnormalties. Methods From January 2012 to December 2014,1 782 cases of prenatal diagnosis were performed at the prenatal diagnosis center ofthe hospital,and their amniocentesis and amniotic fluid cell culture were performed. The 1 775 fetus karyotypes obtained were analyzed.Results One puncture failed and the puncture success rate was 99.94%. Abortion of amniotic fluid failed once in 12 cases,the success ratewas 99.33%,and 6 cases gave up the second culture. A total of 1 775 karyotype analysis results were obtained. 1 775 cases of maternal commu-nism detected 99 cases of various chromosome abnormalities,the total abnormal rate was 5.58%. Among them,the number of chromosomes wasabnormal in 45 cases（2.54%）,other chromosomal abnormalities in 54 cases（3.04%）,including D and G Roche′s translocation in 3 cases,balanced translocation in 1 case,polymorphism in 50 cases. Among chromosome polymorphisms,the inversion of the chromosome 9 was themost common in 16 cases（32.00%）. Conclusion Amniocentesis and karyotype analysis of amniotic fluid cells are currently safe and reliable methods for prenatal diagnosis. Analysis of karyotype of amniotic fluid in high-risk mothers with indications for prenatal diagnosis can effectively reduce the birth of children with chromosomal abnormalities.