产前诊断266例胎儿脐带血染色体检测结果分析

目的探讨脐带血染色体分析在产前诊断中的应用和临床意义。方法对符合产前诊断指征的266例孕妇在妊娠16-38周行脐血穿刺术,抽取脐血1-2ml进行细胞培养,G显带分析胎儿染色体核型。结果 266例脐带血中培养成功261例,成功率达98.12%。在培养成功的脐血中,发现染色体异常20例（7.66%）,以三体型最多见,共16例,占染色体异常的80.0%;染色体多态性14例（5.36%）,以Y染色体异染色区增长最常见,共9例,占多态性的64.29%。结论通过脐血细胞培养染色体核型分析,可以实现胎儿染色体病的产前诊断,减少染色体异常患儿出生,对减轻家庭和社会的经济负担以及提高出生人口素质具有重要意义。

266 cases of umbilical cord blood chromosome analysis in prenatal diagnosis

Objective: To investigate clinical significance of umbilical cord blood chromosome analysis in prenatal diagnosis.Methods: 266 cases of pregnant women(16-38 weeks) were engaged in cordocentesis,1-2ml unbiblical cord blood were collected for cell culture,followed by G-banding karyotype analysis.Results: 261 of 266(98.12%) cases were successfully cultured.Among the successfully cultured cases,20(7.66%) chromosomal abnormalities were identified,trisomy were the most common,16 cases,accounting for 80.0% of the total chromosomal abnormalities.14(5.36%) chromosome polymorphism were identified,Y chromosome heterochromatin prolong was the most common,accounting for 64.29%(9 cases) of the total polymorphism.Conclusion: The karyotype analysis of fetal cord blood chromosome was an effective method to reduce the birthrate of child with chromosome abnormality.It should be wide generalization so that society and more families benefited.