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目的分析妊娠中晚期胎儿脐静脉血染色体核型,了解该时期异常核型出现的频率、种类及与主要产前诊断指征的关系。方法对孕19~34w具有脐静脉血穿刺指征的141例孕妇行脐静脉血穿刺术,进行染色体核型分析。结果 141例脐静脉血培养成功136例,成功率达96.5%。在培养成功的136例脐静脉血标本中,发现22例异常核型,异常率为16.2%。复核羊水结果17例,排除6例假嵌合体。结论对具有产前诊断指征的孕妇行脐静脉血穿刺术,进行染色体核型分析是安全可靠的产前诊断方法,对于减少遗传缺陷儿的出生具有重要意义。
Objective To analyze the karyotypes of umbilical cord blood in the second trimester of pregnancy and to find out the frequency and types of abnormal karyotypes and their relationship with the main indications of prenatal diagnosis. Methods 141 pregnant women with indications of umbilical cord blood from 19 to 34 weeks of pregnancy underwent umbilical vein puncture for chromosome karyotype analysis. Results 141 cases of umbilical vein blood culture success 136 cases, the success rate of 96.5%. Totally 22 cases of abnormal karyotype were found in 136 umbilical venous blood samples, with a rate of 16.2%. Review of amniotic fluid results in 17 cases, excluding 6 cases of pseudo-chimerism. Conclusion The umbilical venipuncture for pregnant women with prenatal diagnosis indications is a safe and reliable method for prenatal diagnosis of karyotype. It is of great significance to reduce the birth of children with genetic defects.