355例产前胎儿羊水细胞易位染色体核型分析及遗传咨询  

Karyotype analysis and genetic counseling of 355 prenatal amniotic fluid cells translocation chromosome

作　　者：代鹏[1] 孔祥东[1] DAI Peng;KONG Xiang-dong(Genetic and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心

出　　处：《中国优生与遗传杂志》2019年第5期560-563,570,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析产前羊水穿刺孕妇胎儿的易位染色体类型、遗传方式和断点,为易位染色体携带者的再发风险及妊娠结局提供遗传咨询和诊断意见。方法彩超辅助抽取羊水,常规方法进行细胞培养、收获、制片、G显带、核型分析,回顾性统计分析2014年1月~2018年9月胎儿染色体易位的发生率、常见核型、遗传方式和断点。结果13100例产检孕妇中共检测出355例胎儿染色体易位,发生率为2.71%(355/13100)。临床特征为植入前产前诊断、女方为携带者和男方为携带者的检出率最多,遗传方式为父系遗传或母系遗。rob(13;14)和rob(14;21)是累及次数最多的罗氏易位核型,t(11;22)和t(4;18)是累及次数最多的相互易位核型,遗传方式以父系遗传或母系遗传。断点分析显示,相互易位染色体共累及出现482个断点,其中断点11q23、22q11和12q24累及次数最多。结论本研究的孕妇胎儿易位染色体发生率较高,rob(13;14)和t(11;22)是累及次数最多的罗氏和相互易位核型,父系遗传或母系遗传。11q23、22q11和12q24是累及次数最多的相互易位断点。分析孕妇胎儿易位染色体发生率、遗传方式、核型和断点可能易位染色体携带者的再发风险及妊娠结局提供遗传咨询和诊断意见。Objective:Analyze the translocation chromosome type,genetic pattern and breakpoints of the fetus of pregnant women with prenatal amniocentesis,and to provide genetic counseling and diagnostic advice for the recurrence risk and pregnancy outcome of translocated carriers.Methods:Amniotic fluid was extracted by color ultrasound,and cell culture,harvest,preparation,G-band and karyotype analysis were performed by conventional methods.Incidence,common karyotypes,genetic methods and breakpoints of fetal chromosomal translocation were analyzed retrospectively from January 2014 to September 2018.Results:A total of 355 fetal chromosomal translocation were detected in 13,100 pregnant women,with an incidence of 2.71%(355/13,100).The clinical features for preimplantation genetic diagnosis(PGD),female carrier and male carrier were the highest detection rate,which was inherited by paternal or maternal inheritance.Rob(13;14)and rob(14;21)were the most involved robertsonian translocation karyotype,t(11;22)and t(4;18)were the most frequently involved type of reciprocal translocation karyotype.Breakpoint analysis showed that 482 break points were involved in the translocation chromosomes,among which the breakpoints 11q23,22q11 and 12q24 were most involved.Conclusion:The incidence of fetal translocation chromosomes in pregnant women in this study is relatively high,rob(13;14)and t(11;22)is the most involved robertsonian and reciprocal translocation karyotype,and the genetic mode is paternal or maternal.11q23,22q11 and 12q24 is the most involved breakpoints.Analysis the incidence,genetic pattern,karyotype and breakpoint may be provide genetic counseling and diagnostic advice for the risk of recurrence and pregnancy outcome of the translocated carriers.

关 键 词：核型分析 相互易位 罗氏易位 

分 类 号：R596.1[医药卫生—内科学]