Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome
| Autor: | Anna Byrjalsen, Laura Roos, Tue Diemer, John Gásdal Karstensen, Kristine Løssl, Anne Marie Jelsig |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
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| Zdroj: | Byrjalsen, A, Roos, L, Diemer, T, Karstensen, J G, Løssl, K & Jelsig, A M 2023, ' Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome ', Scandinavian Journal of Gastroenterology, vol. 58, no. 3, pp. 314-318 . https://doi.org/10.1080/00365521.2022.2129031 |
| Popis: | BACKGROUND: Guidelines from the European Hereditary Tumor Group as well as The Danish National Guidelines for Peutz-Jeghers Syndrome (PJS) state that both prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M) should be offered to patients with PJS. However, only a few cases resulting in viable pregnancies have been published.OBJECTIVE: We present two cases of PJS patients going through PGT-M for PJS. We highlight the awareness of this possibility and discuss the technical and ethical challenges of performing PGT-M for PJS.METHODS AND RESULTS: Case 1: A 36-year-old male with PJS and his partner were referred for genetic counseling. The patient carried a pathogenic de novo variant in STK11. After a terminated pregnancy of a fetus carrying the same pathogenic variant, microsatellite polymorphic marker analysis was established, and the patient was offered PGT-M. The female partner of the patient gave birth to a healthy boy after five years of fertility treatment. Case 2: A 35-year-old female with PJS and her partner were referred for genetic counseling. She carried an inherited pathogenic STK11 variant. The couple was offered PGT-M. Genetic testing of the embryos was performed using microsatellite polymorphic markers. After two rounds of oocyte extraction a blastocyst predicted not to be affected by PJS was identified. The blastocyst was transferred; however, this did not result in a viable pregnancy.CONCLUSIONS: PGT-M can be offered to patients with PJS. The process may be long and filled with ethical dilemmas requiring patients to be motivated and persistent. |
| Databáze: | OpenAIRE |
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