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目的探讨羊水细胞培养及染色体核型分析在产前诊断中的应用价值。方法对孕18~22w孕妇进行羊膜腔穿刺,羊水细胞培养后G显带,运用染色体自动分析系统进行核型分析。结果符合产前诊断指征的2121例孕妇行羊膜腔穿刺,5例羊水细胞培养失败,培养成功率为99.8%。羊水细胞染色体核型分析共检出异常核型145例,异常检出率为6.85%,其中21-三体57例,18-三体16例,倒位24例,平衡易位11例,嵌合体16例,性染色体异常15例,结构异常6例。结论根据产前诊断指征选择高危孕妇进行胎儿羊水染色体检查,可显著提高染色体异常的检出率,对指导优生优育具有重要作用。
Objective To investigate the value of amniotic fluid cell culture and chromosome karyotype analysis in prenatal diagnosis. Methods Pregnant women of 18 ~ 22 weeks pregnant were subjected to amniocentesis and G banding in amniotic fluid cell culture. The karyotypes were analyzed by automatic chromosome analysis system. Results A total of 2121 pregnant women who met the criteria of prenatal diagnosis were subjected to amniocentesis. Five cases of amniotic fluid cell culture failed. The success rate of culture was 99.8%. A total of 145 cases of abnormal karyotype were detected in amniotic fluid cell karyotype. The abnormal detection rate was 6.85%. Among them, 57 cases were 21-trisomy, 16 cases were 18-trisomy, 24 cases were inverted and 11 cases were balanced translocation. 16 cases of anastomosis, 15 cases of sex chromosome abnormalities, 6 cases of structural abnormalities. Conclusion According to the indications of prenatal diagnosis of high-risk pregnant women choose fetal amniotic fluid chromosome examination, can significantly increase the detection rate of chromosomal abnormalities, the guidance of prenatal and postnatal care plays an important role.