无创产前筛查检测母源性t(8;22)非平衡易位胎儿一例并文献复习  

Non-invasive prenatal testing for a fetus with unbalanced maternal translocation t(8;22):a case report and literature review

作　　者：李怡 王奕霞[1] 彭海山[1] 郭芳芳[1] 杨洁霞[1] 侯亚萍[1] 王东梅[1] 欧阳浩新 蔡婵慧 Li Yi;Wang Yixia;Peng Haishan;Guo Fangfang;Yang Jiexia;Hou Yaping;Wang Dongmei;Ouyang Haoxin;Cai Chanhui(Medical Genetics Center,Guangdong Women and Children Hospital,Guangzhou 511400,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511400

出　　处：《新医学》2020年第11期856-860,共5页Journal of New Medicine

基　　金：广东省医学科学技术研究基金(A2020062)。

摘　　要：目的分析无创产前检测(NIPT)用于提示染色体非平衡易位的应用价值。方法经介入性产前诊断一例母源性t(8;22)非平衡易位胎儿,该例孕妇因NIPT结果提示8号染色体3472902-22994689区域存在长约19.52 Mb的片段重复,应用染色体微阵列分析(CMA)及染色体核型G显带分析胎儿羊水,同时对胎儿父母外周血行染色体核型G显带分析,并以“t(8;22)”为关键词在中国知识基础设施工程(CNKI)数据库、全国图书馆参考咨询联盟、PubMed及迈特思创外文医学信息资源检索平台对有详细源于亲代t(8;22)非平衡易位患者病历资料的相关文献进行检索。结果该例CMA显示胎儿在8p21.2-pter位置发生约23.2 Mb的重复,涉及184个基因;22q13.31-qter位置发生约5.9 Mb的缺失,涉及79个基因。胎儿羊水核型G显带分析结果为46,XN,der(22)t(8;22)(p21.2;q13.3)。母亲染色体核型为46,XX,t(8;22)(p21.2;q13.3)。父亲染色体核型结果正常,为46,XY,证实胎儿衍生22号染色体为母系遗传。经文献检索收集到2例国外患者发生源于亲代t(8;22)非平衡易位病例,且均表现有智力迟钝,说话不清,发育异常等临床症状。结论NIPT对胎儿非平衡易位染色体疾病筛查具有一定参考价值,需进一步介入性产前诊断及结合父母染色体核型分析,以指导遗传咨询及再生育需求。Objective To evaluate the application value of non-invasive prenatal testing(NIPT)in the detection of unbalanced translocation of chromosomes.Methods A fetus with unbalanced maternal translocation t(8;22)was confirmed by interventional prenatal diagnosis.NIPT prompted approximately 19.52 Mb of duplication in the region of 3472902-22994689 on chromosome 8.The fetal amniotic fluid was analyzed by chromosome microarray analysis(CMA)and G-banded karyotype analysis.Meanwhile,the peripheral blood of fetal parents was subject to G-banded karyotype analysis.Literature review was performed using the keywords of“t(8;22)”in China National Knowledge Infrastructure(CNKI)database,National Library Reference Association,PubMed and Foreign Medical Literature Retrieval Service of Metstr for detailed clinical data of patients with unbalanced translocation t(8;22)resulting from parental pericentric inversion.Results CMA demonstrated that approximately 23.2 Mb of duplication occurred at the position of 8p21.2-pter on chromosome 8,involving 184 genes,and approximately 5.9 Mb of deletion at the position of 22q13.31-qter on chromosome 22,affecting 79 genes.Amniotic fluid sampling revealed a karyotype of 46,XN,der(22)t(8;22)(p21.2;q13.3).Cytogenetic analysis revealed a karyotype of 46,XX,t(8;22)(p21.2;q13.3)in the mother and a karyotype of 46,XY in the father,confirming that the derived chromosome 22 of the fetus was from maternal inheritance.Through literature review,clinical data of two patients with unbalanced parental translocation t(8;22)outside China,and both of them showed clinical symptoms including mental retardation,unclear speech and abnormal development,etc.Conclusion NIPT can provide certain reference value for the screening of fetal unbalanced translocation chromosomal diseases,which remains to be validated by interventional prenatal diagnosis combined with the parental chromosome karyotype analysis,thereby guiding genetic counseling and reproductive needs.

关 键 词：无创产前检测 t(8 22)非平衡易位 8p21.3重复综合征 22q13.3缺失综合征 Phelan-McDermid综合征 SHANK3基因 

分 类 号：R714.5[医药卫生—妇产科学]