21号染色体部分三体胎儿的产前诊断1例  

Prenatal diagnosis of a case with partial trisomy of chromosome 21

作　　者：李妍 侯菲[1] 刘真真[1] 陶靖[1] 金华[1] Li Yan;Hou Fei;Liu Zhenzhen;Tao Jing;Jin Hua(Department of Prenatal Diagnosis,Jinan Maternal and Child Health Hospital,Jinan 250000,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250000

出　　处：《国际遗传学杂志》2024年第4期272-277,共6页International Journal of Genetics

基　　金：山东省医药卫生科技计划(202105030122);济南市科技发展计划(202328018)。

摘　　要：目的通过荧光定量PCR(quantitative fluorescence PCR,QF-PCR)、染色体微阵列分析(chromosomal microarray analysis,CMA)和G显带核型分析对1例21部分三体胎儿进行产前诊断。方法对受试孕妇行羊膜腔穿刺术收集羊水,部分羊水细胞提取胎儿DNA后行QF-PCR和CMA,部分羊水细胞和孕妇外周血细胞接种培养,后续行G显带核型分析。结果QF-PCR结果显示样本在D21S1445位点、D21S1412位点和D21S1411位点为双峰峰型,峰面积比在0.8~1.4正常范围内;在21q11.2位点、D21S1414位点和D21S1433位点为三体峰型(双峰,峰面积比在0.45~0.65或1.8~2.4;三峰,最大峰与最小峰面积比为1.0~1.4),提示为21部分三体。CMA结果显示该样本在10q23.32-q26.3处发生长度约为41.86 Mb的重复,在21q11.2-q21.3处发生长度约为14.2 Mb的重复。G显带核型结果为47,XN,+21,der(21)t(10;21)(q23.3;q21.3)mat。结论本研究应用QF-PCR等方法对1例21部分三体胎儿进行产前诊断,为QF-PCR应用于目标染色体部分三体的产前诊断提供了临床实践资料。21部分三体具有较大的临床异质性,在临床实践中应联合应用多种方法进行检测。ObjectiveTo prenatally diagnose a fetus with partial trisomy of chromosome 21 via quantitative fluorescence PCR(QF-PCR),chromosomal microarray analysis(CMA)and karyotype analysis.MethodsAmniocentesis was carried out for the pregnant woman who had presented at Jinan Maternal and Child Health Hospital.QF-PCR and CMA were performed after fetal DNA extraction,and karyotype analysis was performed after cell culture.ResultsQF-PCR results showed that the markers D21S1445,D21S1412 and D21S1411 exhibited two peaks with a normal peak area ratio(0.8~1.4);the markers D21S1414 and D21S1433 exhibited two peaks with abnormal peak area ratios(0.45~0.65 or 1.8~2.4);the marker 21q11.2 illustrated a trisomic pattern.CMA revealed a duplication of about 41.86 Mb at 10q23.32-q26.3 and a duplication of about 14.2 Mb at 21q11.2-q21.3.Karyotype analysis showed 47,XN,+21,der(21)t(10;21)(q23.3;q21.3)mat.ConclusionIn this study,QF-PCR was carried out for prenatal diagnosis of a fetus with partial trisomy of chromosome 21,which provided clinical practice data for the application of QF-PCR in prenatal diagnosis of partial trisomy.Due to the great clinical heterogeneity,multiple methods should be performed to detect the partial trisomy of chromosome 21.

关 键 词：21号染色体部分三体 荧光定量PCR 染色体微阵列分析 G显带核型分析 

分 类 号：R714.5[医药卫生—妇产科学]