产前诊断中有关染色体嵌合体的诊断、处理及临床分析  

Retrospective analysis of the outcomes of chromosome mosaicism and clinical undertake in prenatal cases

作　　者：张璘[1] 任梅宏[1] 宋桂宁[1] 刘雪霞[1] 张静[1] 王建六[1] 

机构地区：[1]北京大学人民医院产前诊断中心,100044

出　　处：《中国优生与遗传杂志》2015年第10期54-57,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨产前诊断中羊水检查发现胎儿染色体嵌合体的处理及临床分析。方法自2007年1月至2014年12月在北京大学人民医院产前诊断中心,对具有产前诊断指征的孕妇行羊膜腔穿刺,常规进行细胞培养及染色体核型分析。对羊水检测发现胎儿染色体符合"真性嵌合"标准的患者,建议行脐血穿刺复查或间期羊水FISH复查,同时结合超声检查结果综合分析和遗传咨询,继续妊娠者新生儿出生后随访。结果羊水穿刺10 571例患者中,共发现染色体嵌合体169例,其中真性嵌合体31例(0.29%),假性嵌合体138例(1.31%)。31例羊水检查疑似胎儿染色体嵌合的孕妇中,16例同意进一步脐血穿刺复查胎儿染色体,6例性染色体嵌合采用FISH技术对间期羊水进行检测,8人拒绝复查,1例胎死宫内。16例脐血复查患者中,4例复查结果未见异常(继续妊娠),12例与羊水中核型一致,仍为嵌合体(其中9例结合超声检测选择终止妊娠,2例继续妊娠,1例失访)。另6例行间期羊水FISH检测结果与中期羊水核型一致,依然为性染色体嵌合体(其中3例选择终止妊娠,2例继续妊娠,1例失访)。8例拒绝复查患者中2例选择继续妊娠,6例结合超声检查选择终止妊娠。另1例在孕期胎死宫内后引产。31例真性嵌合体患者中继续妊娠的10例孕妇均于新生儿出生后进行随访,目前没有发现智力及发育等方面明显异常。138例临床诊断为假嵌合体的患者均选择继续妊娠,对其进行出生后随访,17例失访,另121例中1例为室间隔缺损,2例出生低体重,其余目前未见异常。结论羊水培养及染色体分析中出现假性嵌合体几率较高,产前诊断中发现胎儿染色体嵌合者,应建议进一步复查,并结合超声结果进行相应遗传咨询,以防误诊。Objective：We estimated the frequency and clinical outcome of true mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders in 10 571 cases pregnancies studied in our laboratory. Methods：From January 2007 to Dec 2014,10 571 cases of high-risk pregnant women underwent invasive testing. Ultrasound and clinical consult were offered and neonates were under follow-up. Results：Diagnosis of true mosaicism was only made when an abnormality was detected in amniocentesis and umbilical cord blood collection independent cultures sample. On this basis,31 cases（0.29 per cent）of all cases were diagnosed as true mosaics. 138 cases（1.31 per cent）of all cases had pseudomosaicism involving less than two cells from the same culture with an identical abnormality. In 31 cases with true mosaics,16 cases were obtained umbilical cord blood transabdominally again and the results of 12 cases were in accordance with that of amniocentesis samples（in those cases,9 cases terminating pregnancy,two cases continuing pregnancy and one case losing）,but the results of 4 cases were normality without mosaicism（the cases continuing pregnancy）. In 31 cases with true mosaics,6 cases were obtained FISH testing again and the results of all cases were in accordance with that of amniocentesis samples（in those cases,3 cases terminating pregnancy,two cases continuing pregnancy and one case losing）. Other 8 cases refused to underwent umbilical cord blood（2 cases continuing pregnancy and 6 cases terminating pregnancy）and 1 case found intrauterine fetal death and induced labor. 138 cases of pseudomosaicism were seen in amniotic fluid specimens,and all these cases resulted in the live birth of normal healthy infants except for one fetus with ventricular septal defect and two cases with low birth weight and 17 cases losing. Conclusion：There was high pseudomosaicism in amniocentesis cultures. So,if necessary a third culture（including an in situ culture）is extensively analyzed for misdiagnosing as true mosaic

关 键 词：羊水 脐血穿刺 荧光原位杂交 真性嵌合体 假性嵌合体 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]