孕中晚期21三体产前诊断的结果分析

Analysis of prenatal diagnosis of trisomy 21 in mid-pragnance and late pregnance

目的通过孕中晚期21三体、18三体产前诊断的结果分析,评价孕中晚期产前诊断的价值。方法对怀孕16～29周符合产前诊断条件的孕妇经知情同意后,在B超介导下对孕16-24周孕妇行羊膜腔穿刺,抽取羊水;孕25-29周孕妇行胎儿脐静脉穿刺,抽取脐带血,进行细胞培养,染色体核型分析。结果在2689例产前诊断病例中发现异常核型149例,异常率为5.54%。常染色体结构异常-倒位核型43例、平衡易位18例、罗氏易位8例,常染色体非整倍体数量异常(21三体、18三体、13三体)48例,性染色体数量异常15例,性染色体结构异常12例,其它核型异常5例。常染色体非整倍体数量异常(21三体、18三体、13三体)占发现异常核型的32.2%(48/149),为主要异常核型。结论羊水细胞、脐带血染色体核型分析是目前产前诊断21三体、18三体、13三体染色体异常胎儿必不可少的检查方法,对于预防缺陷儿出生,提高人口素质,优生优育具有十分重要的意义。

Objective： To explore clinical value of amniotic cell karyotype analysis for prenatal diagnosis.Methods： Amniotic fluid of 16-24 pregnant weeks women were drawn,fetal umbilical cord blood of 25-29 pregnant weeks women were drawn from Umbilical vein via ultrasound-monitored through informed consent,amniotic cell and Umbilical cord blood cell were cultivated,karyotype were analyzed.Results： Among 2689 Cases of prenatal diagnosis,karyotype abnormalities were 149 cases,Abnormal rate was 5.54%,of autosomal structural abnormalities,43 cases were inversion karyotype,18cases were balanced translocation,8cases were Robinson translocation,48 cases were the number of chromosome abnormality,15 cases were sex chromosome abnormality,12 cases were sex chromosome structural abnormalities,5 case was other karyotype abnormalities.Autosomal aneuploidy number of abnormalities（trisomy 21,trisomy 18,trisomy 13） account for 32.2% of abnormal karyotype,as the main karyotype.Conclusion： Amniotic fluid cells,cord blood karyotype analysis is essential to the prenatal diagnosis of fetal trisomy 21,trisomy 18,trisomy 13,It is very import to prevent born deficiencies,to improve population quality,eugenics and the excellent education.