{Reference Type}: Journal Article
{Title}: [Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders].
{Author}: Cyto And Genomics Group Of Medical Genetics Branch Of Chinese Medical Association ;Liu N;Shi P;Liu L;Kong X;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 41
{Issue}: 6
{Year}: 2024 Jun 10
暂无{DOI}: 10.3760/cma.j.cn511374-20231113-00244
{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.