再次介入性产前诊断在当前形势下的临床应用价值  

Value of second-time invasive prenatal diagnosis in the current circumstances

作　　者：吴怡[1] 王彦林[1] 程蔚蔚[1] 于静波[1] 刘春敏[1] 

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院产前诊断中心,200030

出　　处：《中华医学遗传学杂志》2014年第3期376-379,共4页Chinese Journal of Medical Genetics

基　　金：上海市科委课题（134119a4600）

摘　　要：目的探讨由于不同原因进行再次介入性产前诊断的安全性以及羊水细胞嵌合的分析及处理对策。方法回顾2000年1月至2012年10月5304份羊膜腔穿刺中167份进行再次介入性穿刺的孕妇，分析再次穿刺指征、不同穿刺方法、胎儿染色体核型等因素对妊娠结局的影响。结果167份再次穿刺指征依次为：羊水细胞培养失败121份，羊水细胞核型嵌合23例、羊水穿刺失败21份，以及孕妇要求复查胎儿核型者2份。再次穿刺病例未出现流产。细胞培养成功率为100％。再次穿刺核型异常发生率为8．38％；嵌合者中2例16三体嵌合、1例20三体嵌合及1例8号三体嵌合，脐静脉穿刺核型正常。结论再次介入性产前诊断并不增加孕妇流产的几率。对于羊水细胞嵌合者，脐静脉穿刺是较好的补救措施。某些常染色体三体嵌合型（如8、16及20号等），脐静脉穿刺胎儿核型可能正常，但也不能完全排除三体嵌合的可能，遗传咨询需谨慎。Objective To assess the safety of repeated invasive prenatal diagnosis primarily due to failed culture of amniotic cells. Methods Between January 2000 and October 2012, 167 cases required repeated invasive prenatal diagnosis among a total of 5304 amniocentesis cases. Clinical outcome and karyotypes were analyzed to calculate the rate of fetal loss. Results For the 167 re-sampled cases, the indications have included failed amniocyte culture （ 121 cases）, chromosome mosaicisms （23 cases）, failed amniocentesis （21 cases）, and request for confirmation （2 cases）. No fetal loss has occurred. All samples were cultured successfully. Fourteen cases （8. 38%） have been found with an abnormal karyotype. Four mosaic trisomic cases （2 mosaic trisomy 16, 1 mosaic trisomy 20, and 1 mosaic trisomy 8） were verified to be normal. Conclusion Repeated invasive prenatal diagnosis does not increase the rate of fetal loss. It can be recommended to cases with failed amniocyte culture. Caution should be undertaken when counseling prenatally detected mosaicism trisomies.

关 键 词：介入性产前诊断 再次采样 安全性 

分 类 号：R714.5[医药卫生—妇产科学]