产前诊断指证与胎儿的染色体核型分析

目的:探讨胎儿染色体异常频率及与产前诊断指证的关系。方法:对有产前诊断指证的125例妊娠16-36周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进行胎儿染色体核型分析。结果:125例中,胎儿染色体异常7例,占5.60%(7/125)。其中高龄和唐氏高危孕妇44例中胎儿异常染色体检出率为2.27%(1/44);曾经生产过染色体病儿或孕妇本人或丈夫染色体结构异常携带者13例中,胎儿染色体异常检出率为38.46%(5/13);B超示胎儿畸形7例中,异常染色体检出率为14.29%(1/7)。结论:在各类产前诊断指证中,依次以父/或母为染色体结构异常携带者、B超检查胎儿畸形的胎儿染色体异常频率为高。

Analysis of Abnormal Chromosome in 125 Intrauterine Prenatal Diagnosis

Objective:To study the frequency of the abnormal chromosome and to investigate the relationship between the indications of prenatal diagnosis and abnormal karyotypes.Methods:Cordocentesis and amniocentesis were performed in 125 pregnant women with the indications of prenatal diagnosis during 16-36 gestational weeks.The samples of fetal blood and amniotic fluid were analyzed.Results:Seven abnormal chrosome karyotypes were found in 125 examples and the abnormal rate of karyotypes was 5.60%(7/125).One abnormal karyotypes were found in 44 advanced age pregnant woman and the abnormal rate was 2.27(1/44).The abnormal rate of pregnant woman or husband chromosome sickness that carried unusual chromosome and malformed fetuses were 50.00%(4/8)and 14.29%(1/7),respectively.Conclusion:In the pregnant women with prenatal diagnosis,abnormal karyotypes in fetuses are found to be higher in the following situations:pregnant woman or husband chromosome sickness,abnormal findings by ultrasound.