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目的探讨产前诊断中羊水嵌合体形成的机制,便于临床医生在遗传咨询中正确处理羊水培养中出现的嵌合现象。方法 2004年1月至2010年4月对在中山大学附属第一医院胎儿医学中心因各种产前诊断指征就诊的患者行羊膜腔穿刺术取羊水做染色体检查,从中选取羊水染色体为嵌合体的患者穿刺脐血复查染色体,结合两者的结果探讨羊水嵌合体形成机制。结果羊水嵌合体检出33例,其中25例为假嵌合体,8例为真嵌合体,7例真嵌合体羊水结果与脐血结果一致,1例真嵌合体两者结果不一致。结论正确判断羊水培养中出现的真假嵌合体及其风险,对产前诊断和遗传咨询具有重要的意义。
Objective To explore the mechanism of amniotic fluid chimerism in prenatal diagnosis and to facilitate clinicians to properly deal with chimerism in amniotic fluid culture during genetic counseling. Methods From January 2004 to April 2010, amniocentesis was performed by amniocentesis for amniocentesis in patients with prenatal diagnosis indications in the First Affiliated Hospital of Sun Yat-sen University, from which amniotic fluid chromosomes were selected as chimeras Of patients puncture umbilical cord blood check chromosomes, combined with the results of both explore the mechanism of amniotic fluid chimerism. Results There were 33 cases of amniotic fluid chimerism, of which 25 cases were false chimeras, 8 cases were true chimeras, 7 cases true chimeras were consistent with umbilical cord blood results, and 1 true chimera was inconsistent. Conclusion Correctly judging the true and false chimera in amniotic fluid culture and its risk have important meanings for prenatal diagnosis and genetic counseling.