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[目的]评价产前诊断指证在胎儿染色体病诊断中的意义,探讨产前诊断技术成功率和安全性。[方法]对356例有产前诊断指征的孕妇,进行羊膜腔穿刺术或脐血穿刺术,取羊水细胞或脐血细胞培养,做胎儿染色体核型分析。[结果]349例孕妇共检出胎儿染色体异常7例,染色体异常率为2.01%,产前胎儿异常标记组、孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为27.27%、1.14%和2.08%,显著高于一般人群的异常率。脐血穿刺流产率为1%,羊水穿刺为0。[结论合理应用产前诊断指证可以明显提高染色体病的产前诊断效力,选择适宜的产前诊断技术降低并发症的产生。
[Objective] To evaluate the significance of prenatal diagnosis in the diagnosis of fetal chromosomal diseases and explore the success rate and safety of prenatal diagnosis techniques. [Methods] A total of 356 pregnant women with prenatal diagnosis indications were subjected to amniocentesis or umbilical cord blood puncture. Cultured amniotic fluid cells or umbilical cord blood cells were used for fetal karyotype analysis. [Results] Among 349 pregnant women, 7 cases of fetal chromosomal abnormalities were detected, the rate of chromosomal abnormalities was 2.01%. The abnormal rates of prenatal fetal abnormal marker group, maternal serum Down’s screening positive group and advanced pregnant women group were 27.27% 1.14% and 2.08%, respectively, which were significantly higher than those of the general population. Cord blood abortion abortion rate was 1%, amniocentesis 0. [Conclusion The rational application of prenatal diagnosis of evidence can significantly improve the efficacy of prenatal diagnosis of chromosomal disease, select the appropriate prenatal diagnosis of complications to reduce complications.