产前诊断中羊水细胞染色体嵌合体的发现与处理  

Investigation of mechanism of formation of amniotic fluid mosaicism in prenatal diagnosis

作　　者：赵欣荣[1] 吴怡[1] 韩旭[1] 沈颖华[1] 高佳琪[1] 王彦林[1] 程蔚蔚[1] 

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

出　　处：《中国优生与遗传杂志》2014年第5期66-67,76,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨如何处理羊水细胞培养中出现的嵌合现象。方法收集2007年1月至2011年6月因各种产前诊断指征行羊膜腔穿刺及染色体检查检出为嵌合体病例共27例。统计嵌合体检出率、类型、相应脐带血分析结果,并对所有病例进行出生后随访。结果嵌合体发生率为0.69%。其中,性染色体XX/XY嵌合体11例(占40.74%);数目异常嵌合体13例(占48.15%);结构异常3例(占11.11%)。其中14例行脐血染色体检查,确诊为真性嵌合体1例,终止妊娠;未行脐血染色体检查13个病例中,除2例失访外,余均正常分娩,出生随访未见异常。结论产前诊断羊水细胞嵌合体多为假性嵌合体,各种类型的假性嵌合体一般预后均良好。正确处理和判断羊水细胞培养中出现的嵌合现象,对产前诊断和遗传咨询具有重要的意义。Objective： To investigate the mechanism of formation of amniotic fluid mosaicism in prenatal diagnosis, in order to help the clinicians handle the mosaicism which appears in amniotic fluid culture correctly in genetic counseling. Methods： From January 2007 to June 2011 in Prenatal Diagnosis Center of the International Peace Maternity and Child Health Hospital, anmiotic fluid was obtained from patients with various indications of prenatal diagnosis by amniocentesis for karyotyping, then cord blood was obtained from patients with amniotic fluid mosaicism, the results were combined to investigate the mechanism of formation of amniotic fluid mosaicism.And follow up the pregnancy outcome of all cases. Results： The incidence rate of mosaics is 0.69%. There are 11 cases of sex chromosome XX/XY abnormality （40.74%） , 13 cases of numerical abnormality （48.15%） , 3 cases of structural abnormality （11.11%） . By the help of chromosomal analysis in fetal blood, to identified 1 case of true mosaics, and there was termination of pregnancy. All of pseudo-mosaic cases have a normal outcome. In the cases who did not perform the fetal blood chromosomal analysis, there were 2 cases of not feed back, and 11 cases of good outcome. Conclusions： Most aminocyte mosiacism are pseudo-mosaics, and all types of pseudo mosaics have a good outcome. It＇ s importance to distinguish the true or pseudo mosaics. And we can evaluate the prognosis according to the type of some mosaicism of amniocyte.

关 键 词：产前诊断 羊水染色体 嵌合 

分 类 号：R714.55[医药卫生—妇产科学]