单亲二体相关印记疾病的产前诊断与遗传咨询专家共识  

Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders

作　　者：中华医学会医学遗传学分会细胞与基因组学组 刘宁[2] 时盼来 刘莉娜 孔祥东[2] Cyto and Genomics Group,Medical Genetics Branch,Chinese Medical Association;Liu Ning;Shi Panlai;Liu Li′na;Kong Xiangdong(不详;Genetics and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450012,China)

机构地区：[1]不详 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450012

出　　处：《中华医学遗传学杂志》2024年第6期685-695,共11页Chinese Journal of Medical Genetics

基　　金：河南省重点研发与推广科技攻关专项(222102520018)。

摘　　要：单亲二体(UPD)相关印记疾病是一组由于UPD发生在基因组印记区域,造成印记基因表达紊乱所引起的疾病,可能导致严重的出生缺陷。随着遗传学诊断技术在产前诊断领域的广泛应用,许多机构已开展了UPD相关印记疾病的产前诊断,但由于疾病发生机制复杂,临床医师对于相关疾病的产前表现与临床处理缺乏了解,对其遗传咨询缺乏标准和规范。鉴于此,本学组会同国内产前诊断和医学遗传学专家,参考国内外相关指南与共识,查阅最新的研究进展,就UPD相关印记疾病的产前诊断与遗传咨询达成以下共识,供临床参考使用。Uniparental disomy(UPD)-related imprinting disorders are a group of congenital disorders which can lead to severe birth defects.Their molecular etiology is the occurrence of UPD in the genomic imprinting regions,which may cause disturbed expression of parent-of-origin imprinted genes.With the widespread applications of genetic testing techniques,the prenatal diagnosis of UPD-related imprinted diseases has gradually become clinical routines.However,due to the complicated pathogenesis of such disorders,currently there is still a lack of standards and norms for the understanding,diagnosis,management and genetic counseling.By referring to the relevant guidelines and consensus,the latest progress of research,and opinions from experts in the relevant fields,the writing group has formulated a consensus over the prenatal diagnosis and genetic counseling for UPD-related imprinting disorders,with an aim to provide a more accurate and rational evaluation in prenatal clinics.

关 键 词：UPD相关印记疾病 产前诊断 遗传学诊断 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]