299例胎儿染色体核型分析在产前诊断中的意义

Significance of 299 cases Chromosomal analysis in prenatal diagnosis

目的探讨胎儿染色体核型分析与产前诊断指征的关系。方法应用羊水或脐血细胞培养,G显代技术,分析该院2001年1月至2007年1月299例因DS高风险、不良孕产史、父母染色体异常及其他产前诊断指征行羊膜腔或脐带血穿刺的胎儿染色体核型分析的结果。结果按参与产前诊断的孕妇例数进行排位,前5位依次为DS高风险(145例)、不良孕产史(65例)、高龄(35例)、畸形胎儿(32例)和父母染色体异常(14例),分别占总例数的48.5%、21.7%、11.7%、10.7%和4.7%。按胎儿染色体核型异常检出的例数进行排位,前5位依次为畸形胎儿6例、唐氏高风险4例、高龄孕妇和不良生育史各3例、父母染色体异常1例,分别占染色体核型异常检出总例数的35.3%、23.5%、17.6%、17.6%和5.9%。按参与产前诊断的孕妇数与胎儿染色体核型异常检出的比例进行排位,前5位依次畸形胎儿、高龄、不良生育史、唐氏高风险和父母染色体异常,检出率分别为18.75%、8.57%、4.62%、2.76%和1.97%。结论①畸形胎儿染色体异常检出的比例位于各类产前诊断指征的第一位。②唐氏高风险占产前诊断参检孕妇的首位,但胎儿染色体核型异常检出的比率仅居第五位。

[Objective] To study the relationship between fetal chromosomal abnormalities and prenatal diagno- sis indication. [Methods] 299 cases Chromosomal results from amniotic fluid or cord blood cell cuhured and stained by G- banding in Xiangya Hospital from 2001.1 to 2007.1 were investigated retrospectively, because of the indica- tions to prenatal diagnosis on Down＇s high-risk, adverse pregnancy history, parents chromosomal abnormalities and others. [ Results ] According to cases of the pregnant women participated in prenatal diagnosis, the top five were in turn Down＇s high-risk （145 cases）, adverse pregnancy history （65 cases）, elder age （35 cases）, fetal malformation （32 cases） and parents Chromosomal abnormalities （14 cases）, respectively. Its percentage to the total cases were of 48.5%, 21.7%, 11.7%, 10.7% and 4.7%, respectively. By the number of fetal Chromosomal abnormalities detected, the top five were fetal malformation（ 6 cases）, Down＂ s high-risk（4 cases ）, elder age（3 cases）,adverse reproductive history （3 cases）, parents chromosomal abnormalities（1 cases）, which accounted for total cases of 35.3%, 23.5%, 17.6%, 17.6% and 5.9%, respectively. By ratio of cases in pregnant women joined in prenatal diagnosis verse fetal Chromosomal abnormality, fetal malformation, the elderly, poor reproductive history, the parents of Chromosomal ab- normalities, Down＇s high-risk were ranked ,its rate were 18.75%, 8.57%, 4.62%, 2.76% and 1.97%. [Conclusion] （1） The proportion of Chromosome abnormality detected in fetal malformation was rank to top in the indications of prenatal diagnosis. （2）The number of Down＇s high-risk pregnant women for prenatal diagnosis line is in the first po- sition, but the rate of fetal chromosome abnormality detected was only abode in the fifth place.