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目的:探讨不同指征介入性(羊膜腔穿刺术)获得胎儿细胞、培养分析染色体异常核型及其检出率,预防缺陷患儿的出生。方法:回顾性分析宁波地区4905例孕妇的介入性手术指征、不同指征的异常染色体核型及发生率。结果:4905例介入性产前诊断中,手术指征分别为:血清学筛查高风险、孕妇高龄(年龄≧35岁)、超声胎儿结构异常、不良妊娠史和夫妇一方染色体结构异常携带者。共检出异常核型252例,检出率为5.14%。异常核型有:三体型87例;特纳氏14例;部分单体或三体6例;三倍体4例;平衡易位28例;环状染色体1例;倒位和染色体多态性分别有69例和36例;其它嵌合型7例。结论:不同指征高危孕妇应采用介入性细胞遗传学诊断胎儿染色体,有效控制出生缺陷的发生率。
Objective: To investigate the different indications of interventional (amniocentesis) to obtain fetal cells, culture analysis of chromosomal abnormal karyotype and its detection rate, prevention of birth defects in children. Methods: A retrospective analysis of 4905 pregnant women in Ningbo interventional indications, different indications of abnormal chromosome karyotype and incidence. Results: In 4905 cases of interventional prenatal diagnosis, the surgical indications were as follows: high risk of serological screening, pregnant women aged 35 years or older, abnormal ultrasound fetal structure, bad pregnancy history and chromosomal abnormalities on one side of the couple. 252 cases of abnormal karyotype were detected, the detection rate was 5.14%. Abnormal karyotypes are: 87 cases of trisomy; 14 cases of Turner; 6 cases of partial or trisomy; 4 cases of tetraploid; 28 cases of balanced translocation; 1 case of circular chromosome; inverted and chromosomal polymorphisms There were 69 cases and 36 cases respectively; other chimerism in 7 cases. Conclusion: Pregnant women with different indications should adopt fetal cytogenetic diagnosis of fetal chromosomes to effectively control the incidence of birth defects.