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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 investigate the value of amniotic fluid cell karyotype analysis in prenatal diagnosis of chromosomal abnormalities. Methods 581 pregnant women underwent amniocentesis, amniotic fluid cell culture, chromosome preparation and karyotype analysis. RESULTS: Among 581 cases of amniotic fluid samples, 29 cases of abnormal chromosome, 9 cases of 21-trisomy, 3 cases of 18-trisomy, 1 case of 45, XO, 47 and XXY, 5 cases of inv (9) Among the 425 patients with high risk of prenatal screening, the detection rate of abnormality was 4.00%. The 117 cases of advanced age had an abnormal detection rate of 5.13%. There were 12 cases of abnormal B-wave abnormality with an abnormal detection rate of 16.67%. Conclusion Chromosome karyotype analysis of amniotic fluid cells is an effective method to reduce birth defects.