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目的分析妊娠中期进行产前诊断的孕妇羊水细胞染色体异常核型的频率及类型,并探讨异常核型与产前诊断各指征之间的联系。方法 2424例具备产前诊断指针的妊娠孕妇,在知情情况下行羊膜腔穿刺术及染色体核型检测。结果2424例羊水细胞培养成功2417例,成功率为99.71%,检出染色体数目及结构异常核型114例,异常率为4.70%,多态核型65例,多态率为2.68%。结论羊水细胞学染色体核型分析是产前诊断的重要手段,对于指导优生优育、降低缺陷儿的出生具有重要意义。
Objective To analyze the frequencies and types of chromosomal aberrant karyotypes in prenatal diagnosis of pregnant women during the second trimester of pregnancy and to explore the relationship between the abnormal karyotypes and the indications of prenatal diagnosis. Methods 2424 pregnant women with prenatal diagnosis indicators underwent amniocentesis and chromosome karyotype detection. Results 2424 cases of amniotic fluid cells were successfully cultured in 2417 cases, with a success rate of 99.71%. The number of chromosomes and the number of structural abnormalities were detected in 114 cases. The abnormality rate was 4.70%. Polymorphic karyotype was 65 cases with a polymorphism rate of 2.68%. Conclusions Amniotic fluid cytology karyotype analysis is an important means of prenatal diagnosis, which is of great significance for guiding prenatal and postnatal care and reducing birth defects.