利用各孕期胎儿染色体检查技术进行产前诊断的探讨

目的:应用各孕期产前诊断技术对可能出现遗传病的高危孕妇进行宫内诊断,预防染色体病。方法:对416例具有产前诊断指征的孕妇进行绒毛、羊水、胎儿脐静脉血染色体核型分析。结果:检出染色体异常核型26例,检出率为6.25%。染色体异常核型类型为:21-三体5例,平衡易位12例,倒位及缺失各2例,18-三体、47,XXY、47,XXY,inv(9)(p11q13)、45,X及嵌合体各1例。其中9例染色体三体及单体患者终止妊娠。结论:对高危妊娠妇女进行各孕期产前诊断是诊断胎儿染色体病,提高人口质量不可缺少的技术手段。

Study on prenatal diagnosis by fetal chromosomal karyotyping during any gestation al phase

Objective:Making prenatal diagnosis during any gestational phase to prevent the birth of chromosome abnormal fetuses.Methods:Villus cells,amniotic fluid cells and umbilical cord blood chromosomal karyotypes were analyzed for 416 pregnant women with prenatal diagnosis indication.Results:26 abnormal chromosomal karyotypes were detected and the abnormal rate was 6.25%.There were 5 cases of 21 trisomy,12 cases of balanced translocation,2 cases of inversion,2 cases of deletion,each of 18 trisomy,47,XXY,47,XXY,inv(9)(p11q13),45,X and mosaicism had 1 case.Among them,9 cases of abnormal chromosomal karyotypes terminated their pregnancies.Conclusion:Making prenatal diagnosis during any gestational phase is absolutely necessarily to prevent the birth of chromosome abnormal fetuses.