2476例孕中期产前诊断羊水细胞染色体核型临床分析

2476 cases of second trimester prenatal diagnosis of amniotic fluid cells karyotype analysis

目的探讨进行羊膜腔穿刺取羊水细胞培养染色体检查的临床意义。方法对妊娠中期符合产前诊断指征的孕妇取羊水进行羊水细胞培养和染色体核型分析。结果具有产前诊断指征的孕妇2476例,发现染色体异常核型129例,异常率5.21%;其中21-三体占34.1%(44/129),18-三体占9.30%(12/129),性染色体的数目异常占10.1%(13/129);染色体的结构异常35.7%(46/129)。其中发现8例世界首报核型。结论通过对具有产前诊断指征的孕妇如:唐氏筛查高风险、高龄、夫妻染色体异常、不良孕史及B超软指标异常者进行产前诊断,可以有效降低孕妇的自然流产、减少出生缺陷患儿的发生,达到优生优育以提高人口素质。

Objective：To investigate the amniocentesis amniotic fluid cell culture chromosome clinical significance. Methods：Trimester pregnant women in line with indications of prenatal diagnosis of amniotic fluid amniotic fluid cell culture and karyotype analysis. Results：2476 cases of pregnant women have indications of prenatal diagnosis,abnormal karyotypes found in 129 cases,the abnormal rate of 5.21%;of which trisomy 21 accounted for 34.1%（44/129）,trisomy 18 accounted for 9.30%（12/129）,the number of sex chromosome abnormalities accounted for 10.1%（13/129）;chromosome structural abnormalities 35.7%（46/129）. Which found eight cases first reported in karyotype. Conclusion：Pregnant women having prenatal diagnosis indications such as：Down＇s screening of high-risk,elderly couples chromosomal abnormalities,adverse pregnancy history and B super soft targets abnormal prenatal diagnosis,can effectively reduce the spontaneous abortion of pregnant women and reduce the occurrence of birth defects in children,to prenatal and postnatal care to improve the quality of the population.