412例妊娠中期羊水细胞检测孕妇的指征及结果分析

The indications and results of 412 pregnant women accepted for amniotic fluid cell detection in second trimester

目的通过对实施妊娠中期羊水细胞检测孕妇的指征及结果的分析,探讨本地区羊水细胞检测的应用价值。方法回顾性分析412例进行孕中期羊膜腔穿刺并收集羊水细胞进行检测的孕妇的病历资料,分析检测的指征及结果。所有病例均进行了羊水细胞核型分析;24例需要或要求进行地中海贫血产前诊断的进行了地中海贫血基因产前诊断。结果 412例孕妇中,检测指征按由高到低顺序依次为高龄孕妇;血清学筛查高危;地中海贫血基因携带者;超声筛查高危;非整倍体胎儿妊娠史;孕早期服药或放射线接触史。羊水细胞核型分析共检出26例胎儿染色体异常,发生率为6.31%;包括21例染色体数目异常(含1例嵌合体)和5例染色体结构异常(含3例嵌合体)。地中海贫血产前诊断检出患病纯合子胎儿4例。结论孕中期羊水细胞检测对本地区人群进行产前诊断的价值是肯定的。随着高龄孕妇在产前诊断人群中所占比例的增加,应该制定更为合适的产前检查方案。

Objective： To value amniotic fluid cell detection for the regional pregnant women by analyzing their indications and results.Methods： The indications and results of 412 pregnant women accepted for amniotic fluid cell detection in second trimester were retrospectively analyzed.All subjects were applied for anmiotic fluid cell karyotyping, and 24 samples of them were applied for prenatal diagnosis of thalassemia.Results： For 412 pregnant women, the descending order indications were： women of advanced maternal age; high risk of prenatal screening; carder of thalassemia; high risk of ultrasound screening; the previous pregnancy with an aneuploid fetus~ medication or radiation exposure in early pregnancy.26 fetuses were detected to be abnormal chromosome, and the incidence was 6.31%.The abnormal karyotypes included 21 cases of quantitative abnormalities and 5 cases of structural abnormalities.4 homozygotic fetuses of thalassemia were detected.Conclusion： It is valuable to apply the amniotic fluid cell detection for the regional pregnant women.The suitable prenatal inspection program for the women of advanced maternal age should be considered.