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目的探讨羊水细胞培养对孕中期高危孕妇进行产前诊断的必要性及有效性,分析产前诊断的高危孕妇羊水细胞染色体核型,了解孕中期异常核型出现的频率,类型及与各种产前诊断指征之间的关系。方法对1350例具有产前诊断指征的孕妇在妊娠16-23周时行羊膜腔穿刺术,抽取羊水进行细胞培养及染色体制备,并对核型结果进行分析。结果羊水细胞培养成功并进行核型分析的为1339例,成功率为99.2%;染色体核型多态性22例(1.64%),检出异常核型53例(3.96%)。异常核型中以三体较为多见。结论羊膜腔穿刺进行羊水培养染色体检查是安全、可靠的染色体异常的产前诊断方法。三体综合征为孕期主要的异常核型;夫妇一方染色体异常、异常超声波检查结果、唐氏高风险、高龄是产前诊断主要的指征。对高危妊娠妇女进行羊水染色体核型检查是必须的。
Objective To investigate the necessity and effectiveness of amniotic fluid cell culture for prenatal diagnosis of high risk pregnant women in the second trimester of pregnancy and to analyze the chromosomal karyotypes of amniotic fluid cells in prenatal diagnosis of high risk pregnant women and to find out the frequency and types of abnormal karyotypes The relationship between pre-diagnosis indications. Methods A total of 1350 pregnant women with prenatal diagnosis indications were performed amniocentesis at 16-23 weeks’ gestation, amniotic fluid was drawn for cell culture and chromosome preparation, and karyotype results were analyzed. Results A total of 1339 cases of amniotic fluid cells were successfully cultured and analyzed for karyotype. The success rate was 99.2%. There were 22 cases (1.64%) of chromosomal karyotypes and 53 cases (3.96%) of abnormal karyotypes. Abnormal karyotype to trisomy more common. Conclusions Amniocentesis for amniocentesis is a safe and reliable method for prenatal diagnosis of chromosomal abnormalities. Trisomy syndrome is the main abnormal karyotype during pregnancy; chromosomal abnormalities on one side of the couple, abnormal ultrasonography, Down’s high risk, advanced age are the main indications for prenatal diagnosis. A high-risk pregnant women, amniotic fluid karyotype examination is a must.