학술논문

Prenatal and pre‐implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance.
Document Type
Article
Source
BJOG: An International Journal of Obstetrics & Gynaecology. Dec2023, Vol. 130 Issue 13, p1563-1567. 5p.
Subject
*PRENATAL diagnosis
*PRENATAL genetic testing
*GENETIC variation
*CANCER genes
*MEDICAL personnel
*HEREDITARY cancer syndromes
CANCER susceptibility
Language
ISSN
1470-0328
Abstract
LEGAL ASPECTS RELATING TO PRENATAL DIAGNOSIS The guidance also clarifies legal aspects in relation to termination of pregnancy for a germline cancer susceptibility gene variant. Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance Although it is anticipated that there would be fewer requests for prenatal diagnosis or PGT-M for moderate penetrance genes and sex-specific variable penetrance genes, sensitive reproductive counselling by an appropriately trained genetic/genomic healthcare professional and case discussion in multidisciplinary forums is recommended. Testing for germline pathogenic variants in cancer susceptibility genes is now commonplace and routine practice, in order to guide management of individuals with cancer and to determine surveillance and risk-reduction options for those at increased genetic risk. [Extracted from the article]