Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders
10.3760/cma.j.cn511374-20231113-00244
- VernacularTitle:单亲二体相关印记疾病的产前诊断与遗传咨询专家共识
- Author:
Ning LIU
1
;
Panlai SHI
;
Li′na LIU
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450012
- Keywords:
UPD-related imprinting disorder;
Prenatal diagnosis;
Genetic diagnosis;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2024;41(6):685-695
- CountryChina
- Language:Chinese
-
Abstract:
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.
