细胞和分子遗传学检测技术在双着丝粒染色体胎儿产前诊断中的应用  

Application of cell and molecular genetic testing techniques in prenatal diagnosis of dicentric chromosomes fetuses

作　　者：李亚星 徐玉婵 陆碧玉 王文丹 覃宋强 蔡鹏飞 覃江锋 唐宁 LI Yaxing;XU Yuchan;LU Biyu;WANG Wendan;QIN Songqiang;CAI Pengfei;QIN Jiangfeng;TANG Ning(Department of Medical Genetics,Liuzhou Maternity and Child Healthcare Hospital,Liuzhou,Guangxi 545001,China;Department of Medical Genetics,Guangzhou Women and Children’s Medical Center Liuzhou Hospital,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院医学遗传科,广西柳州545001 [2]广州市妇女儿童医疗中心柳州医院医学遗传科,广西柳州545001

出　　处：《中国优生与遗传杂志》2024年第12期2552-2557,共6页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z-B20231522、Z20210767、Z-B20231534、Z-B20221590、Z-B20232028)。

摘　　要：目的将细胞和分子遗传学检测技术联合应用于双着丝粒染色体胎儿的产前诊断,为其遗传咨询及妊娠处理提供有价值的参考依据。方法选取2018年1月至2024年7月在柳州市妇幼保健院和广州市妇女儿童医疗中心柳州医院就诊的32377名具有产前诊断指征的孕妇,根据孕周相应地采集绒毛、羊水、脐血样本,采用染色体核型分析(G显带)及全基因组拷贝数变异测序(CNV-seq)技术进行分析,必要时加做染色体核型C显带,并检测其亲代外周血染色体核型进行溯源分析。结果诊断双着丝粒染色体胎儿6例,均为新发病例,其父母外周血染色体核型均正常,其中例1~3胎儿为psu idic(X)与X单体的嵌合体,例4~5胎儿为纯合的psu idic(X),例6为psu dic(Y;21)。5例纯合或嵌合的psu idic(X)胎儿染色体核型中有3例为46,X,psu idic(X)(p11.2),1例为46,X,psu idic(X)(q21),1例为46,X,psu idic(X)(q24)。结论染色体核型分析G显带技术对染色体的数目异常和大于10 Mb结构异常的诊断是“金标准”,C显带技术对判断真假双着丝粒染色体具有一定的参考价值,CNV-seq技术可以准确地定位染色体断裂重排位点。因此,将各种细胞与分子遗传学检测技术联合起来应用,对双着丝粒染色体胎儿的产前诊断更有优势。Objective The combination of cellular and molecular genetic detection technologies are used to carry out prenatal diagnosis,genetic counseling and postnatal follow-up of fetuses with dicentric chromosomes,so as to provide corresponding reference for the clinical diagnosis and treatment of fetuses with dicentric chromosomes.Methods 32377 pregnant women with prenatal indications diagnosis who were admitted to the Liuzhou Maternity and Child Healthcare Hospital and the Liuzhou Hospital of the Guangzhou Women and Children’s Medical Center from January 2018 to July 2024 were selected.Samples of chorionic villi,amniotic fluid,and umbilical cord blood were collected according to the gestational age of the pregnant women for chromosome karyotyping analysis(G-banding)and copy number variation sequencing(CNV-seq)technology.If they were necessary,C-banding technology and parental peripheral blood chromosome karyotyping traceability testing were performed.Results A total of six fetuses with bipolar chromosomes were diagnosed,all of which were de novo mutations.The parents’peripheral blood karyotypes were normal.Among them,first to third fetuses were mosaic psu idic(X)with X chromosomes,the forth to fifth fetuses were homozygous psu idic(X),and the sixth fetus was psu dic(Y;21).Among the five pure or mosaic psu idic(X)fetuses,three fetuses had a karyotype of 46,X,psu idic(X)(p11.2),one fetuse had a karyotype of 46,X,psu idic(X)(q21),and one fetuse had a karyotype of 46,X,psu idic(X)(q24).Conclusion G-banding technology for chromosome karyotyping is the“gold standard”for diagnosing numerical and structural chromosomal abnormalities greater than 10 Mb in size,while C-banding technology can provide valuable reference for distinguishing true from false dicentric chromosomes.CNV-seq technology can accurately locate breakpoint sites of chromosomal rearrangements.Therefore,combining various cell and molecular genetics detection techniques for prenatal diagnosis of fetuses with dicentric chromosomes is more advantageous.

关 键 词：双着丝粒染色体 产前诊断 全基因组拷贝数变异测序(CNV-seq) 

分 类 号：R714.5[医药卫生—妇产科学]