2250例羊膜腔穿刺产前诊断指征及其结果分析

目的:探讨不同指征介入性产前诊断(羊膜腔穿刺)的临床意义。方法:回顾性分析2 250例孕妇介入性产前诊断指征及其羊水脱落细胞异常核型检出率。结果:2 250例中,共检出异常核型124例,检出率5.5%。各种介入性产前诊断指征异常核型检出率依次为:夫妇一方染色体异常占33.3%,胎儿超声异常占11.6%,高龄孕妇占5.1%,产前血清学筛查异常占4.3%,唐氏综合征患儿生育史占2.1%。结论:羊膜腔穿刺是安全、有效的介入性产前诊断方法,可有效地预防染色体病患儿的出生。

Analysis on the indications of prenatal diagnosis and results of amniocentesis in 2 250 cases

Objective:To explore the clinical significance of invasive prenatal diagnosis(amniocentesis) in women with different indications.Methods:The indications of invasive prenatal diagnosis and the detection rate of abnormal karyotypes of exfoliative cells in amniotic fluid of 2 250 pregnant women were analyzed retrospectively.Results:Among 2 250 cases,124 cases were found with abnormal karyotypes,the detection rate was 5.5%.The detection rates of abnormal karyotypes in women with different indications of invasive prenatal diagnosis were 33.3%(one of the couple with chromosomal abnormality),11.6%(abnormal foundings through fetal ultrasonography),5.1%(advanced maternal age),4.3%(prenatal serological screening abnormality),and 2.1%(Down’s syndrome),respectively.Conclusion:Amniocentesis is a safe and effective invasive prenatal diagnosis method,which can prevent the birth of children with chromosomal diseases effectively.