5459例孕晚期脐带血染色体细胞遗传学分析

目的评价脐带血细胞染色体核型分析在孕晚期产前诊断中的应用价值。方法对有产前诊断指征的孕妇在B超引导下经脐静脉穿刺抽取脐带血行淋巴细胞培养、染色体制备及核型分析。结果成功培养脐带血细胞5456例,培养成功率为99.9%（5456/5459）,共检测出170例染色体非多态性结构异常。其中包括染色体数目异常140例,17例染色体易位;4例染色体缺失;9例嵌合体。同时还检测出71例染色体倒位。结论胎儿进行脐带血产前诊断,染色体数目三体征是脐血检查的主要异常核型,脐静脉穿刺是孕晚期产前诊断的重要方法。对于减少染色体畸形儿的出生具有重要的意义。

5459 cases of late pregnancy umbilical cord blood chromosome cytogenetic analysis

Objective：Evaluation of cord blood cells karyotype analysis application in late pregnancy prenatal diagnosis value.Methods：Pregnant women for prenatal diagnosis indication under ultrasound guided by the umbilical vein puncture pumping line cord blood lymphocyte culture,chromosome preparation and karyotype analysis. Results：5456 cases of successful culture of cord blood cells,and cultivate the success rate was 99.9%（5456/5459）,detected 170 cases of chromosome polymorphism structural abnormalities. Including 140 cases of abnormal chromosome number,17 cases of chromosome translocation;4 cases of chromosome deletion;9 cases of chimeras. At the same time also detected 71 cases of chromosomal inversion. Conclusions：Fetal umbilical cord blood of prenatal diagnosis,signs and chromosome number three is the main abnormal karyotype,umbilical cord blood to check the umbilical vein puncture is an important way to late pregnancy of prenatal diagnosis. For reducing the chromosome of birth has the vital significance.