一例Pallister-Killian综合征的无创产前检测及遗传学诊断  

Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome

作　　者：王俊育 庄建龙 江矞颖 傅婉玉 王元白 Wang Junyu;Zhuang Jianlong;Jiang Yuying;Fu Wanyu;Wang Yuanbai(Prenatal Diagnosis Center,Quanzhou Women and Children’s Health Care Hospital,Quanzhou,Fujian 362000,China)

机构地区：[1]福建省泉州市妇幼保健院儿童医院产前诊断中心,362000

出　　处：《中华医学遗传学杂志》2021年第10期997-1001,共5页Chinese Journal of Medical Genetics

基　　金：2019年泉州市科技计划(2019N050S)。

摘　　要：目的联合应用无创产前检测(non-invasive prenatal testing,NIPT)、染色体核型分析和染色体微阵列分析(chromosomal microarray analysis,CMA)对一例新发的胎儿额外小标记染色体(supernumerary small marker chromosome,sSMC)进行产前筛查与诊断,分析其基因型与表型的对应关系,为遗传咨询提供依据。方法对孕妇应用NIFTY®常规版和全因版两种试剂盒进行外周血游离DNA(cell-free DNA,cfDNA)检测,通过羊膜腔穿刺术获取胎儿细胞,进行染色体核型分析和基于单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)的拷贝数变异(copy number variation,CNV)分析,并用荧光原位杂交(fluorescence in situ hybridization,FISH)进行验证。结果NIFTY®常规版和全因版均提示胎儿12号染色体存在dup(chr12:707334~33308759)异常,其中全因版拷贝数异常区域T-Score值为6.823,高于常规版的3.9535,高于正常阈值±3;羊水细胞常规G显带分析提示胎儿核型为47,XY,+mar;SNP-array结果显示胎儿为arr[hg19]12p13.33p11.1(173786~34385641)×4;FISH证实该sSMC来自12号染色体短臂。综合上述结果考虑胎儿为新发的Pallister-Killian综合征。结论NIPT技术对产前筛查Pallister-Killian综合征具有一定的价值。联合多种检测技术有助于明确sSMC的来源。Objective To apply combined non-invasive prenatal testing(NIPT),chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome(sSMC).Methods Standard NIFTY and full gene NIFTY kits were applied to detect free DNA(cfDNA)isolated from peripheral blood sample of a pregnancy woman.Amniocentesis was carried out for the woman for an abnormal NIPT result.G-banded karyotyping and single nucleotide polymorphism array(SNP array)were used to determine the karyotype and copy number variants in the fetus.The result was validated with a fluorescence in situ hybridization(FISH)assay.Results Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707334-33308759),for which the T-score value of copy number anomaly in full gene NIFTY is 6.823,which is higher than the standard NIFTY®’s T-Score value of 3.9535.The two NIFTY results were both above the normal threshold±3.Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar.SNP-array delineated duplication of 12p(arr[hg19]12p13.33p11.1(173786_34385641)×4,which was verified by FISH.Based on the above results,the fetus was diagnosed as a novel case of Pallister-Killian syndrome.Conclusion NIPT has a certain value for the prenatal detection of PKS.Combined use of multiple techniques can facilitate delineation of the source of sSMC.

关 键 词：Pallister-Killian综合征 标记染色体 无创产前检测 单核苷酸多态性微阵列 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]