【摘要】 目的:探讨妊娠中、晚期脐血穿刺产前诊断的临床应用价值。方法:对619例具有不同产前诊断指征的高危孕妇行胎儿脐静脉穿刺,抽取脐血进行染色体核型分析。对核型结果不能明确诊断的样本进一步行分子遗传学诊断。结果:619例样本脐血细胞培养成功613例,成功率99.0%(613/619)。在培养成功的613例样本中,检出染色体异常53例,异常率为8.6%(53/613)。异常核型中,染色体数目异常25例,结构异常19例,嵌合体异常9例。分子遗传学检测的9例样本中,5例含致病性变异,分别是DiGeorgeⅠ异常、19号染色体q13.42-q13.43重复、17号染色体p11.2缺失、12号染色体p11.21-q12重复、Y染色体多处重复合并缺失。结论:脐血穿刺是妊娠中、晚期高危孕妇产前诊断的重要手段,可有效减少出生缺陷。更多还原

【Abstract】 Objective:To investigate the clinical application value of cordocentesis in medium and late pregnancy.Methods:A total of 619 pregnant women were collected from Fujian Provincial Maternity and Children Hospital who voluntarily accepted cordocentesis for karyotype analysis.Further molecular genetic diagnosis were made in samples that were not specifically diagnosed by karyotype analysis.Results:Of all 619 cord blood cells,613 cases were successfully cultured,and the success rate was 99.03%(613/619).53 cases of fetal chromosomal abnormalities were found,and the abnormal rate was 8.65%(53/613).25 cases were chromosomal number abnormality,19 cases were chromosomal structural abnormality,9 cases were mosaic abnormalities.5 cases had pathogenic mutation detected by molecular genetic test,which included DiGeorge syndrome,19 q13.42-q13.43 repeat,loss of chromosome 17 p11.2,12 p11.21 q12 repeat and Y chromosome with multiple abnormality(loss and repeat).Conclusion:Cordocentesis is an important method for prenatal diagnosis in medium and late pregnancy,which has good clinical application value and can effectively reduce birth defects.更多还原