2371例孕妇产前诊断的指证及其结果分析

目的分析产前诊断指证与胎儿染色体检测结果的关系。方法 2371例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析。结果 2371例孕妇共检出胎儿染色体异常60例,染色体异常率为2.53%,显著高于一般人群的异常率（P〈0.01）。其中孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为1.63%（13/794）、2.32%（15/646）,产前胎儿超声异常标记组胎儿染色体异常率16.12%（15/93）,夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达71.4%（5/7）,21-三体儿检出25例,占异常率的41.67%（25/60）,其中一例连续两次诊断出21-三体儿。结论出现胎儿染色体异常率最高的指证,依次为平衡易位携带、产前超声发现胎儿异常标记、高龄孕妇、孕母血清唐氏筛查阳性。掌握好产前诊断指证,可更有价值地控制和减少出生缺陷的发生。

A retrospective analysis between indications for the invasive prenatal diagnostics and chromosomal karyotypes for 2371 cases

Objective:To analyze indications for the invasive prenatal diagnostics and chromosomal karyotypes.Methods:A total of 2371 cases for prenatal diagnosis in our hospital was enrolled into this study.These women were in the second and thirdtrimester of pregnancy.Fetalblood and amnioticfluid from these women were obtained.And chromosomal karyotypes were determined.Results:Among 2371 cases,60 cases of fetus’chromosomal abnormalities were detected,and the abnormal incidence was 2.53%.In groups of parental balanced chromosome rearrangements,abnormal ultrasonography markers,maternal serum Down’s syndrome screening positive,and advanced maternal age,the abnormal incidences were 71.4%(5/7),16.12%(15/93),1.63%(13/794),2.32%(15/646),respectively.Except 1 case have twice trisomy 21,no fetus′s chromosomal abnormality was observed in groups of trisomy18,21pregnant history and possible teratogenic exposure.Conclusion:In the pregnant women with prenatal diagnosis,the highest incidence of chromosomal abnormality would be group of parental balanced chromosome rearrangements,and then group of abnormal ultrasonography markers,advanced maternal age and maternal serum Down′ssyndrome screening positive.Prenatal diagnosis has efficacy for the control and reduction of fetalbirth with chromosomal abnormalities.