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目的探讨羊水细胞染色体检查在产前诊断中的作用,并评价其在临床应用中的价值。方法采用细胞遗传学的方法,对羊水细胞培养G显带染色体核型分析。结果羊水染色体核型分析2400例,诊断异常核型85例,异常率3.5%,异常核型分别为:常染色体三体型(13三体、18三体、21三体等)37例;性染色体三体型4例,单体型2例;平衡易位和倒位23例,不平衡染色体3例;诊断嵌合型5例;染色体多态性11例。结论羊水染色体核型分析是重要的染色体病诊断方法,对于产前诊断具有重要意义。
Objective To investigate the role of amniotic fluid cytology in prenatal diagnosis and to evaluate its value in clinical application. Methods Cytogenetic method was used to analyze G-banding karyotype of amniotic fluid cells. Results There were 2,400 cases of amniotic fluid karyotype analysis, 85 cases of abnormal karyotype diagnosis, abnormal rate of 3.5%, abnormal karyotypes were: autosomal trisomy (trisomy 13, trisomy 18, trisomy 21, etc.) 37 cases; sex chromosome 4 cases of trisomy, 2 cases of haplotype, 23 cases of balanced translocation and inversion, 3 cases of unbalanced chromosome, 5 cases of diagnosis of chimerism and 11 cases of chromosome polymorphism. Conclusions Amniotic fluid chromosome karyotype analysis is an important diagnostic method of chromosome disease, which is of great significance for prenatal diagnosis.