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张海霞1,梁玥宏2,任晨春2,王文靖2,刘国川2
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张海霞1 ,梁玥宏2 ,任晨春2 ,王文靖2 ,刘国川2 . 897例高龄孕妇孕早期绒毛组织染色体核型分析[J]. .
摘要： 目的：对高龄孕妇的胎儿进行细胞遗传学分析，以评估其生育染色体异常患儿的危险性。方法：采用直接法制备绒毛组织染色体，并进行核型分析。结果：897例孕妇绒毛组织染色体核型分析，发现异常核型64例，异常率为7.1%，新生染色体异常54例，异常率6%。其中性染色体数目异常14例，常染色体数目异常27例，结构异常13例。结论：高龄孕妇生育染色体异常患儿的风险性较高，育龄妇女应尽量避免年龄过大造成生殖细胞质量下降。
关键词: 高龄, 孕早期, 绒毛组织, 染色体异常, 核型分析
Abstract: Objective: To evaluate the risk of abnomal fetus through analysis on karyotypes of advanced maternal age. Methods: Villus chromosome karyotype analysis was performed for 897 pregnant women. Results: 64 abnormal chromosomal karyotypes and 54 de novo abnormal chromosomal karyotypes were detected by prenatal diagnosis, including 14 sex chromosome abnormalities, 27 autosome chromosome number abnormalities, and 13 autosome chromosome structural abnomalities, 10 polyploidy. Conclusion: The risk of the fetus with chromosome abnormalities in the pregnant women aged over 35 years was high and chromosome karyotype analysis was necessary and effective in prenatal diagnosis.
Key words: advanced maternal age, the first trimester of gestation, villus, chromosome abnormalities, chromosomekaryotypeanalysis
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https://www.tjyybjb.ac.cn/CN/Y2010/V38/I7/622
