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目的探讨羊水细胞培养及染色体核型分析在唐氏综合征等染色体病干预中的价值。方法对526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。结果羊水细胞培养成功率为99.43%,检出异常核型31例,其中21-三体6例,包括嵌合型1例,13-三体1例,性染色体数目异常3例,嵌合体4例,染色体结构异常14例,多态性变异4例。结论采用羊水细胞进行染色体核型分析对唐氏综合征等染色体异常进行产前诊断,是控制和减少出生缺陷的发生地有效措施。
Objective To investigate the value of amniotic fluid cell culture and chromosome karyotype analysis in the intervention of Down’s syndrome and other chromosomal diseases. Methods 526 pregnant women underwent amniocentesis, amniotic fluid cell culture, chromosome preparation and karyotype analysis. Results The success rate of amniotic fluid cell culture was 99.43%. There were 31 cases of abnormal karyotype detected, including 21 cases of 21-trisomy, including 1 case of chimerism, 1 case of 13-trisomy, 3 cases of abnormal sex chromosome number, 4 cases of chimera 4 Cases, abnormal chromosome structure in 14 cases, 4 cases of polymorphic variation. Conclusions It is an effective measure to control and reduce the incidence of birth defects by carrying out prenatal diagnosis of chromosomal abnormalities such as Down Syndrome by amniotic fluid cell chromosome karyotype analysis.