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目的探讨羊水非多态性染色体核型分析在细胞遗传学产前诊断中的应用及意义。方法通过对各种具备产前诊断指征的1887例妊娠妇女,在知情选择的情况下行羊膜腔穿刺术及羊水细胞遗传学检查。结果本实验室1887例羊水中共检测出77例非多态性异常,异常率为4.08%(77/1887),其中染色体数目异常53例,染色体结构异常10例,嵌合体14例。结论孕中期羊水细胞染色体核型非多态性分析具有十分重要的意义。
Objective To investigate the application and significance of karyotype analysis of amniotic fluid non-polymorphism in prenatal diagnosis of cytogenetics. Methods A total of 1887 pregnant women with prenatal diagnosis indications underwent amniocentesis and amniotic fluid cytogenetics with informed choice. Results A total of 77 non - polymorphisms were detected in 1887 cases of amniotic fluid in our laboratory. The abnormality rate was 4.08% (77/1887). There were 53 cases with abnormal chromosome number, 10 cases with chromosomal abnormalities and 14 cases with chimeras. Conclusion It is of great importance to analyze the non-polymorphism of amniotic fluid cell chromosome in the second trimester.