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Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A

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Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). In addition, patients seem to have a genuine interest in reproductive options. However, there are just two reports worldwide of this technology being used for patients with MEN 2A. We here present, in a Danish couple where the man has MEN 2A, the first European family with children born after PGT-M. Objective: To report the results of PGT-M in relation to multiple endocrine neoplasia type 2A with the aim to increase awareness among physicians treating this and other genetic disorders. Methods: A Danish couple was referred to the PGT Center at Copenhagen University Hospital Rigshospitalet and opted for PGT-M after counseling by a clinical geneticist and a fertility doctor. The embryos were diagnosed using microsatellite polymorphic marker close to RET. Results: The couple had two healthy children born in 2017 and 2019 as a result of a total of three ICSI treatments including controlled ovarian stimulation, oocyte retrieval and PGT-M, and a total of six blastocyst transfers. Conclusion: A session with a clinical geneticist covering all reproductive options for patients in early adult life is a relevant part of the clinical management of patients with MEN 2A, and other patients with hereditary cancer predisposition syndromes.

Original languageEnglish
Article number572151
JournalFrontiers in Endocrinology
Volume11
Pages (from-to)572151
ISSN1664-2392
DOIs
Publication statusPublished - 2020

Bibliographical note

Publisher Copyright:
© Copyright © 2020 Würgler Hansen, Sønderberg Roos, Løssl, Godballe and Mathiesen.

Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.

    Research areas

  • PGT-M, assisted reproductive technology, medullary thyroid carcinoma, multiple endocrine neopasia type 2, rearranged during transfection (RET)

ID: 61714883