羊水细胞培养及染色体核型分析在产前诊断中的应用

The Value of Culturing Amniotic Fluid Cell and Chromosome Analysis in Prenatal Diagnosis

目的探讨羊水细胞培养及染色体核型分析在产前诊断中的应用价值。方法从中孕期妇女羊膜腔穿刺获取羊水,细胞培养后分析染色体核型,进行产前诊断。结果 17例产前诊断患者羊水细胞培养及制片成功率均为100%,共检出异常染色体核型3例,检出率为17.65%,其中21三体2例(11.76%),胎儿2N/4N嵌合体1例(5.88%)。结论羊水细胞培养及染色体核型分析是目前安全、有效、可靠的产前诊断方法之一,结合唐氏筛查、超声诊断、脐血染色体检查可有效预防出生缺陷的发生。

Objective To evaluate the feasibility and reliability of using cultured amniotic fluid cells and chromosome analysis for prenatal diagnosis.Methods Amniotic fluid cells were cultured for chromosome analysis.Results 3 cases of chromosome abnormalities were detected in 17 cases of amniotic fluid cells and the detection rate of chromosome abnormalities was 17.65%.Among the chromosome abnormalities 2 cases were Trisomy 21（11.76%） and the other cases were chromosome mosaicism 2N/4N（5.88%）.Conclusion Culturing amniotic fluid cells and chromosome analysis are safe,effective and reliable methods for prenatal diagnosis of high-risk pregnant women,which play an important role in guiding prenatal and postnatal care and improving population quality.