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目的通过对妊娠中期高危孕妇羊水染色体核型分析,防止染色体病患儿出生。方法2007年10月~2008年5月对在本院122例具有介入性产前诊断指征的孕妇,行羊水细胞培养G显带技术,羊水染色体核型分析。结果118例羊水培养成功,成功率96.72%(包括重复穿刺在内);共检出4例染色体异常,占3.39%,其中,1例非整倍体,3例染色体结构异常;13例染色体多态;嵌合体1例;100例正常核型。结论对高危胎儿行羊水细胞培养染色体检查,能安全、有效地对胎儿染色体异常进行产前诊断。
Objective To detect the amniotic fluid karyotype of pregnant women who are at high risk during the second trimester of pregnancy so as to prevent their birth. Methods From October 2007 to May 2008, 122 pregnant women with interventional prenatal diagnosis were enrolled in this study. G - banding technique and amniotic fluid karyotype analysis were performed in amniotic fluid cells. Results A total of 118 cases of amniotic fluid were successfully cultured, with a success rate of 96.72% (including repeated puncture). A total of 4 cases of chromosomal abnormalities were found, accounting for 3.39%. Among them, 1 case was aneuploid and 3 cases had chromosomal abnormalities. 1 case of chimera and 100 cases of normal karyotype. Conclusion Chromosome examination of amniotic fluid cell culture in high-risk fetus can prenatal diagnosis of fetal chromosomal abnormalities safely and effectively.