【摘要】 目的通过胎儿脐血异常核型检出率、类型分布及相应穿刺指征的关系,探讨胎儿脐血染色体分析在产前诊断中的应用。方法知情同意后对有产前诊断指征的孕妇627例,行脐静脉穿刺,采集胎儿脐血1.5-2ml,经淋巴细胞体外培养,显微镜下进行染色体核型分析。结果 627例脐血42例核型异常,异常率为6.7%。其中,三体征17例,占数目异常的89.5%,性染色体数目异常2例,嵌合体4例。倒位10例,占结构异常的52.6%,其它结构异常为部分单体或部分三体。唐筛高危组、B超异常组及高龄组的异常核型检测率分别为8.3%、7.6%及4.5%,其它组无异常核型。B超异常组、唐筛高危组的受检人数构成比分别为48.5%和31.6%,与其它组差异显著(P<0.05)。结论胎儿发育异常是脐带血产前诊断的重要指征,三体征是脐血的主要异常核型,脐静脉穿刺是孕晚期产前诊断的重要方法。更多还原

【Abstract】 Objective:To study the application of karyotype of umbilical cord blood in prenatal diagnosis,according to the rate of fetal chromosomal aberrations,the type of chromosomal aberrations and the related clinical indications.Methods:Collecting fetal blood 627 pregnant women by umbilical cord puncture with informed consents,and lymphocyte culture and chromosomal karyotypes were examined.Results:There were 42 cases with chromosomal aberrations.The rate of chromosomal aberrations was 6.7%.There were 17 cases with trisomy syndrome and the rate was 89.5% in the number abnormal karyotypes.There were 2 cases with sex chromosome aberrations and 4 cases mosaic.There were 10 cases with inversion and rate is 52.6% in the structure abnormal karyotypes.All other cases with the structure abnormal karyotypes were partial monosomy and partial trisomy.The rates of the abnormal karyotypes in Down′s high-risk group,abnormal ultra-sonographic findings group and advanced maternal age group were 8.3%,7.6% and 4.5%.There was no abnormal karyotype in the other groups.The constituent ratios of abnormal ultra-sonographic findings group and the Down′s high-risk group were 48.5% and 31.6%,which was significant difference(P<0.05).Conclusions:The fetal developmental anomaly was an important clinical indication for karyotype of umbilical cord blood.The trisomy was the main karyotype,and umbilical cord blood karyotyping was an important method of prenatal diagnosis in the mid and late pregnancy.更多还原