摘要
目的探讨羊水细胞染色体核型分析在染色体异常疾病产前诊断中的应用价值。方法对581例孕妇行羊膜腔穿刺术,羊水细胞培养,染色体制备及核型分析。结果 581例羊水标本中,共检出29例异常染色体,21-三体9例,18-三体3例,45,XO,47,XXY各1例,inv(9)5例;产前诊断指征中产前筛查高风险425例,异常检出率4.00%;高龄117例,异常检出率5.13%;B超异常12例,异常检出率16.67%。结论羊水细胞的染色体核型分析是降低出生缺陷的有效方法。
Objective：To explore the application value of karyotype analysis of am niotic fluid cells in prenatal diagnosis for chromosome abnormality disease.Methods： 581 cases gravidas were implemented for amniocentesis,then amniotic fluid were cultured and karyotyped.Results：In 581 cases of amniotic fluid specimen,29 cases of abnormal chromosome were detected,9 cases of Down′s,3 cases of Edwards,one case 45,XO,one case 47,XXY,and 5 cases inv（9）.In the prenatal diagnosis of indications,there were 425 cases with prenatal screening high-risk,the detection rate of abnormal chromosome is 4.00%.In 117 cases of advanced maternal age,the rate of abnormal chromosome is 5.13%.And in 12 cases of abnormal ultrasonographic,the rate of abnormal chromosome is 16.67%.Conclusion： Karyotype analysis of amniotic fluid cells is the effective method to reduce birth defects.
出处
《中国优生与遗传杂志》
2013年第2期52-53,共2页
Chinese Journal of Birth Health & Heredity
关键词
羊水
染色体
核型分析
产前诊断
Amniotic fluid
Chromosome
Karyotype analysis
Prenatal disgnosis
