中孕期胎儿染色体平衡易位检测结果的细胞遗传学分析  

Cytogenetic analysis of detection results of fetal chromosomal balanced translocation in the second trimester

作　　者：费冬梅[1] 欧阳鲁平 黄红倩[1] 孙惟佳[1] 刘天盛[1] 苏景玉 谢意[1] Fei Dongrnei, Ouyang Luping, Huang Hongqian, Sun Weijia, Liu Tiansheng, Su Jingyu, Xie Yi.(Laboratory of Genetic and Metabolism Center, Maternal i~ Child Health Hospital, Children＇s Hospital, Obstetrics i~ Gynecology Hospital of Guangxi Zhuang Autonomous Region, Nanning 530001, Guangxi Zhuang Autonomous Region, Chin)

机构地区：[1]广西壮族自治区妇幼保健院儿童医院妇产医院遗传代谢中心实验室,南宁530003

出　　处：《中华妇幼临床医学杂志（电子版）》2018年第2期207-212,共6页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：国家科技支撑计划项目(2014BAI06B03);广西壮族自治区自筹经费课题(Z2015237)~~

摘　　要：目的探讨中孕期检测结果为胎儿染色体平衡易位的细胞遗传学特点及妊娠结局。方法选择2012年1月至2015年12月,于广西壮族自治区妇幼保健院经羊水穿刺染色体核型分析,诊断为胎儿染色体平衡易位的89例中孕期孕妇为研究对象,其中1例为双胎妊娠。采用经腹羊膜腔穿刺术,取羊水20mL进行细胞培养,分析胎儿染色体核型,并在知情同意情况下,抽取胎儿父母外周血进行染色体检查。总结这90例胎儿染色体平衡易位的细胞遗传学特点及妊娠结局。本研究受试者均签署知情同意书。结果本研究90例胎儿染色体平衡易位中,相互易位为53例,罗伯逊易位为37例。(1)53例胎儿染色体相互易位中,嵌合体易位为8例,其中2例为假性嵌合体,经复查羊水和脐带血为核型正常;有13例为世界首次报道的染色体相互易位核型。对42例胎儿父母进行外周血染色体检查的结果显示,40.5%(17/42)胎儿染色体相互易位遗传自母亲,33.3%(14/42)遗传自父亲,26.2%(11/42)为新生突变。53例染色体相互易位胎儿的妊娠结局为:3例胎儿被引产,2例胎儿因失访而妊娠结局不详,其余48例胎儿均继续妊娠而活产。(2)37例胎儿染色体的罗伯逊易位中,非同源罗伯逊易位为31例(83.8%),其中2例选择引产终止妊娠,其余均继续妊娠;同源罗伯逊易位为6例(16.2%),全部选择引产终止妊娠。结论对父母为染色体平衡易位携带者或有其他生育异常高危因素的孕妇,应在孕期进行胎儿染色体核型分析。在遗传咨询医师指导下,控制具有不良遗传因素的新生儿出生。Objective To investigate cytogenetic characteristics and pregnancy outcomes of detection results of fetal chromosomal balanced translocation in the second trimester.Methods A total of 89 pregnant women with fetal chromosomal balanced translocation were chosen as research subjects,including 1 case of twin pregnancy.They were diagnosed by karyotype analysis of amniocentesis from January 2012 to December 2015 in Maternal Child Health Hospital of Guangxi Zhuang Autonomous Region.A total of 20 mL of amniotic fluid of each pregnant woman was extracted and cultured through amniocentesis to achieve fetal karyotype analysis.The karyotypes of the parents were generated from the peripheral blood cultures under the informed consent. The cytogenetic characteristics and pregnancy outcomes of 90 cases of fetal chromosomal balanced translocation were summarized.Informed consents were obtained from research participants.Results There were53 cases of mutual translocation and 37 cases of robertsonian translocation in 90 cases of fetal chromosomal balanced translocation.（1）Among 53 cases of fetal chromosomal mutual translocation,8 cases were chimeric translocation,including 2 cases of pseudo-chimera which confirmed with normal karyotypes by reviewing the amniotic fluid and umbilical cord blood sample;a total of 13 of 53 cases were the first reported karyotype in the world.According to parents′peripheral blood karyotype of42 fetuses,there were 40.5%（17/42）fetal chromosomal translocation inherited from mother,33.3%（14/42）inherited from father,and 26.2%（11/42）from de novo mutations.Among53 fetuses of chromosomal mutual translocations,3 fetuses were induced,2 fetuses had unknown pregnancy outcomes due to loss of follow-up,and the remaining 48 fetuses were continue to be pregnant and live birth.（2）In 37 cases of robertson translocation,there were 31 cases（83.8%）of nonhomologous robertson translocation,in which 2 cases were induced and the rest were continue to be pregnant.There were 6 cases（16.2%）homologous

关 键 词：产前诊断 羊水 染色体 易位 遗传 核型分析 胎儿 孕妇 

分 类 号：R714.5[医药卫生—妇产科学]