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目的探讨羊水细胞染色体分析在孕中期产前诊断中的应用价值。方法收集2013年1月-2014年10月在浙江省台州医院产前诊断中心行羊水穿刺的4186份羊水标本,进行羊水细胞培养并染色体分析。结果在4186份羊水标本中,检出异常核型共129例,检出率为3.08%。其中数目异常共98例(检出率2.34%),21三体54例,18三体19例,13三体2例,性染色体异常20例,69,XXX 1例,47,+mar 2例。染色体结构异常共31例(检出率0.74%),其中平衡易位21例。结论羊水细胞染色体核型分析对于诊断胎儿染色体病,降低出生缺陷有重要意义。
Objective To investigate the value of amniotic fluid cell chromosome analysis in prenatal diagnosis. Methods From January 2013 to October 2014, 4186 samples of amniotic fluid amniocentesis were collected from the prenatal diagnosis center of Taizhou Hospital in Zhejiang Province for amniotic fluid cell culture and chromosome analysis. Results In 4186 samples of amniotic fluid, 129 cases of abnormal karyotype were detected, the detection rate was 3.08%. The number of abnormalities were 98 cases (detection rate 2.34%), 21 trisomy 54, 18 trisomy 19, 13 trisomy 2, sex chromosome abnormalities 20, 69, XXX 1, 47, + mar 2 cases . Chromosome structural abnormalities in a total of 31 cases (detection rate 0.74%), of which 21 cases of balanced translocation. Conclusions Chromosome karyotype analysis of amniotic fluid cells is important for the diagnosis of fetal chromosomal diseases and the reduction of birth defects.