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目的了解产前诊断指征在胎儿染色体异常诊断中的价值,以指导产前遗传咨询。方法对961例有产前诊断指征的孕妇进行羊膜腔穿刺染色体核型分析,比较不同产前诊断指征的染色体异常检出率。结果 961例孕妇共检出异常核型42例,总的染色体异常检出率为4.37%,其中夫妇一方有染色体异常组染色体异常检出率最高,为66.66%,其次是B超检查胎儿异常组,为16.7%,高龄组为:4.91%,血清生化筛查组为:2.88%,不良孕产史组为:1.75%,不良接触史及用药史组染色体异常检出率最低,为0%。结论产前遗传咨询应重视夫妇一方染色体异常的检查及产前超声筛查,对有产前诊断指征的孕妇进行羊膜腔穿刺术,羊水细胞培养分析胎儿染色体核型,以预防染色体异常儿的出生。
Objective To understand the value of prenatal diagnosis in the diagnosis of fetal chromosomal abnormalities to guide prenatal genetic counseling. Methods Nine hundred and ninety-one pregnant women with prenatal diagnosis indications were analyzed by amniocentesis for chromosome karyotype analysis. The detection rate of chromosomal abnormalities in different prenatal diagnosis indications was compared. Results 961 pregnant women detected abnormal karyotype in 42 cases and the total detection rate of chromosomal abnormalities was 4.37%. The highest detection rate of chromosomal abnormalities was 66.66% in couples with chromosomal abnormalities, followed by B-ultrasound in fetal abnormalities , 16.7% in advanced age group, 4.91% in advanced age group, 2.88% in serum biochemical screening group, and 1.75% in adverse pregnancy history group. The lowest detection rate of chromosomal abnormalities was 0% in adverse exposure history and medication history group. Conclusion Prenatal genetic counseling should pay attention to the detection of chromosomal abnormalities on one side of the couple and prenatal ultrasound screening. The pregnant women with prenatal diagnosis indications for amniocentesis, amniotic fluid cell culture analysis of fetal chromosomal karyotype to prevent chromosomal abnormalities Born