宫内产前诊断胎儿120例染色体核型结果与分析

Analysis of chromosome karyotypes in 120 cases of intrauterine prenatal diagnosis

目的：分析胎儿染色体异常出现的频率及与产前诊断指征的关系。方法：对有产前诊断指征的120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并进行胎儿染色体核型分析。结果：120例产前诊断中，染色体异常7例，占5．83％（7／120）。其中高龄和唐氏高危孕妇42例进行胎儿染色体检查，异常染色体检出率为0；孕妇本人或丈夫染色体结构异常携带者8例，胎儿染色体异常检出率为50．00％（4／8）；胎儿畸形7例，异常染色体检出率为14．29％（1／7）。结论：在各类产前诊断指征中，出现胎儿染色体异常者依次以父或母为染色体结构异常携带者、B超检查胎儿异常者的频率高。

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 120 cases of 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 cases of abnormal chromosome karyotypes were found in 120 cases and the abnormal rate of abnormal karyotypes was 5.83% （7/ 120）. The fetal chromosome examination were performed in 42 advanced age pregnant women and the abnormal rate was 0. There were 8 cases of the pregnant women or their husbands carriers with unusual chromosome and the detection rate of malformed fetuses was 50.00% （4/8）. There was 7 cases of fetal anomaly and detection rate of abnormal chromosome was 14.29% （1/7）. Conclusion： In the pregnant women with prenatal diagnosis, abnormal karyotypes in fetuses are found to be higher in the following situations： one of the couple with abnormal chromosome, abnormal findings in fetues by uitrasonography.