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

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.