1837例不同指征产前诊断羊水细胞染色体核型分析

Chromosome karyotype analysis on prenatal diagnosis of amniotic fluid cells in 1837 cases with different indications

目的分析孕期不同产前诊断指征与胎儿染色体异常的关系。方法回顾我院2011年1月至2015年12月共1837例有产前诊断指征并进行羊膜腔穿刺羊水细胞染色体核型分析的病例,研究不同产前诊断指征对染色体异常的预测价值。结果 1837例羊水标本中共检出染色体异常核型109例,异常率检出率为5.93%。高龄妊娠、唐氏筛查高风险、超声异常及无创DNA检测高风险接受产前诊断孕妇中,染色体异常检出率分别为4.18%、6.00%、16.10%和68.42%。除高龄妊娠组与唐氏筛查高风险组差异无统计学意义外,其他各组间均存在显著性差异。结论高龄妊娠、唐氏筛查高风险、超声异常及无创DNA检测高风险等高危孕妇,应进行胎儿染色体核型分析,从而减少染色体异常患儿的出生。

Objective：Analysis of the relationship between different prenatal diagnosis indications and fetal chromosomal abnormalities. Method：A total of 1837 cases who had the prenatal diagnosis indexes and agreed to do prenatal diagnosis and in our hospital from January 2011 to December 2015 were reviewed. To study the predictive value of different prenatal diagnosis indications for chromosome abnormality. Results：In 1837 cases of amniotic fluid,there were 109 cases of abnormal chromosome karyotype,The detection rate was 5.93%. Among the pregnant women with advanced maternal age,Down′s screening high risk and ultrasonic anomaly and NITP high risk,the incidence rates of chromosomal abnormalities（including chromosome polymorphism）were 4.18%,6.00%,16.10% and 68.42% respectively. There was no significant difference between advanced maternal age group and Down′s screening high risk group,among the other groups were significant differences. Conclusion：It is necessary to suggest the pregnant women with one of the advanced maternal age or Down′s screening high risk or ultrasonic anomaly or NITP high risk to carry out further prenatal diagnosis,as to avoid chromosomel abnormalities at birth and reduce the birth defects.