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目的:对923例高危孕妇羊水染色体核型结果进行分析,探讨胎儿染色体异常的类型、发生频率及与各产前诊断指征间的关联,评价羊水细胞染色体核型分析应用于产前诊断的临床意义。方法:对2009~2011年于河南省妇幼保健院产前诊断中心进行产前诊断的923例有产前诊断指征的孕妇行羊膜腔穿刺术、羊水细胞培养及胎儿染色体核型分析。结果:923例孕妇中共检出染色体多态20例,多态发生率2.17%。检出各种染色体异常核型37例,异常率4.01%,其中染色体非整倍体异常26例,占70.27%,染色体结构异常11例,占29.73%。在各染色体异常核型中21-三体发生率最高,共检出14例,占37.84%。各产前诊断指征染色体异常核型检出率依次为:夫妻一方染色体异常57.14%,超声异常8.93%,高龄孕妇4.31%,不良孕产史3.51%,唐氏筛查(唐筛)高风险2.53%。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孕妇进行羊水染色体核型分析,可有效降低染色体异常患儿的出生。
OBJECTIVE: To analyze the amniotic fluid karyotypes of 923 high-risk pregnant women and to explore the relationship between the types and frequencies of fetal chromosomal abnormalities and the prenatal diagnosis indications. To evaluate the clinical application of amniotic fluid chromosome karyotype analysis in prenatal diagnosis significance. Methods: A total of 923 prenatal diagnosis indications for prenatal diagnosis in prenatal diagnosis center of Maternal and Child Health Hospital of Henan Province from 2009 to 2011 were performed amniocentesis, amniotic fluid cell culture and fetal karyotype analysis. Results: There were 20 cases of chromosome polymorphism detected in 923 pregnant women, the incidence of polymorphism was 2.17%. Thirty-seven cases of karyotype abnormalities were detected, with an abnormal rate of 4.01%. There were 26 cases of chromosomal aneuploidy, accounting for 70.27%, and 11 cases of chromosomal abnormalities, accounting for 29.73%. The highest incidence of 21-trisomy in all karyotypes of chromosomal abnormalities was detected in 14 cases (37.84%). Prenatal diagnosis of chromosomal abnormalities karyotype detection rate were: marital chromosomal abnormalities 57.14%, 8.93% abnormal ultrasound, pregnant women 4.31%, poor pregnancy history 3.51%, Down’s screening (Don mesh) high risk 2.53%. Conclusion: Amniocentesis and amniotic fluid chromosome karyotype analysis is a safe and reliable prenatal diagnosis method. A high-risk pregnant women with prenatal diagnosis of amniotic fluid karyotype analysis of pregnant women, can effectively reduce the birth of children with chromosomal abnormalities.