宁波地区8430例孕妇羊水穿刺产前诊断指征探讨及结果分析  

Study on method for analysis of indication of antenatal diagnosis by the amniotic fluid puncture from 8430 women at intermediate stage of pregncy in Ningbo

作　　者：余颀[1] 陈志央[1] 鲁莉萍[1] 陈铁峰[1] 屈煜[1] 

机构地区：[1]宁波市妇女儿童医院检验科,浙江宁波315010

出　　处：《中国优生与遗传杂志》2013年第1期30-32,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨近九年来宁波市8430例孕妇孕中期羊水细胞染色体异常核型检出率与不同产前诊断指征的关系。方法 2002年8月至2011年7月在宁波市妇女儿童医院对8430例有产前诊断指征的孕妇,在超声定位下行羊膜腔穿刺术,抽取羊水细胞进行培养,并在各种产前诊断指征下比较染色体异常核型的检出率及分布。结果羊水细胞培养成功率为99.92%(8430/8437),发现异常核型331例,异常率为3.93%。检出染色体多态性变异164例,占1.95%。其中超声提示胎儿发育异常组,异常核型的检出率为40.63%。夫妻染色体异常组为21.74%,,血清学产前筛查高风险组为3.90%,高龄组为3.62%,不良生育史组为3.53%。检出的主要异常核型为47,XY(XX),+21、47,XY(XX),+18、45,XO、46,XY(XX),inv(9)、罗伯逊易位、平衡易位。结论具有产前诊断指征的孕妇进行羊水细胞染色体检查是有必要的,其中超声提示胎儿发育异常,夫妻染色体异常,高龄孕妇,血清学产前筛查高风险,是主要的产前诊断指征。Objective：To analyze the chromosome nuclear types of amniotic fluid cell from 8430 women at intermediate stage of pregncy in Ningbo in past nine years,and investigate the relationship between the detection rates of chromosomal abnormalities and different indications for prenatal diagnosis.Methods：8430 Pregnant women with the necessity of prenatal diagnosis were chosen.The amniotic fluid were obtained under the ultrasound localization.The detection rate of the chromosomal abnormality was compared in different groups.Results：The success rate of amniotic fluid cell culture was 99.92（8430/8437）,and 331（3.93%） cases of abnormal karyotypes were found.164 cases（1.95%） chromosome polymorphism.The detection rate of abnormal karyotypes was 40.63 in the pregnant women with abnormal ultrasound founding,couple with a carrier of constitutional chromosome abnormality was 21.74%,pregnant women with a high risk result by serum prenatal screening was 3.90%,pregnant women elder than 35 years old was 3.62%,adverse pregnancy group was 3.53%.47,XY（XX）,＋21,47,XY（XX）,＋18,45,XO,46,XY（XX）,inv（9）,robertsonian translocation,balanced translocation are the chief abnormal karyotypes.Conclusion：It is necessary to analyze the chromosome nuclear types in amniotic fluid for pregnant women with prenatal diagnosis indications.And fetal abnormalities found by ultrasound,a carrier of chromosomal abnormality of one of the couple,elder maternal age,and a high risk result by serum prenatal screening are the most important genetic indications for prenatal diagnosis.

关 键 词：染色体 异常核型 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]