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- Publisher
- Oxford University Press
- Copyright
- © The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: [email protected]
- ISSN
- 0268-1161
- eISSN
- 1460-2350
- DOI
- 10.1093/humrep/dead112
- Publisher site
- See Article on Publisher Site
Abstract
Recent developments in molecular biological technologies and genetic diagnostic methods, accompanying with updates of relevant terminologies, have enabled the improvements of new strategies of preimplantation genetic testing for monogenic (single gene) disorders (PGT-M) to prevent the transmission of inherited diseases. However, there has been much in the way of published consensus on PGT-M. To properly regulate the application of PGT-M, Chinese experts in reproductive medicine and genetics have jointly developed this consensus statement. The consensus includes indications for patient selection, genetic and reproductive counseling, informed consent, diagnostic strategies, report generation, interpretation of results and patient follow-ups. This consensus statement serves to assist in establishment of evidence-based clinical and laboratory practices for PGT-M.
Journal
Human Reproduction – Oxford University Press
Published: Nov 20, 2023
Keywords: preimplantation genetic testing; monogenic disorders; expert consensus; reproductive medicine; hereditary diseases