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目的分析胎儿染色体核型情况,探讨产前诊断意义。方法我院2011年1月~2013年12月就诊的681例需行胎儿染色体核型分析的孕妇,采取羊膜腔穿刺获取羊水进行胎儿染色体核型进行分析。结果检出染色体异常共36例,其中21—三体13例,18—三体1例,性染色体异常2例,其他染色体核型异常3例,染色体多态性17例。在高龄(≥35岁)孕妇中,5例发生染色体异常。结论对高危孕妇胎儿进行核型分析能准确地检测出胎儿染色体异常,从而降低染色体病的出生率,对提高我国出生人口素质有重要意义。
Objective To analyze the status of fetal karyotype and to explore the significance of prenatal diagnosis. Methods A total of 681 pregnant women who underwent fetal karyotype analysis from January 2011 to December 2013 in our hospital were collected for amniocentesis by amniocentesis for fetal karyotype analysis. Results There were 36 cases of chromosomal abnormalities, including 13 cases of 21-trisomy, 1 case of 18-trisomy, 2 cases of sex chromosome abnormalities, 3 cases of other chromosomal abnormalities and 17 cases of chromosome polymorphisms. In elderly (≥ 35 years old) pregnant women, chromosomal abnormalities occurred in 5 cases. Conclusion The karyotype analysis of fetus in high-risk pregnant women can accurately detect fetal chromosomal abnormalities and thus reduce the birth rate of chromosomal diseases, which is of great significance to improve the quality of the population born in China.