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Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome. | LitMetric

AI Article Synopsis

  • The European Hereditary Tumor Group and Danish National Guidelines recommend offering prenatal diagnosis and preimplantation genetic testing (PGT-M) to patients with Peutz-Jeghers Syndrome (PJS), although successful case reports are scarce.
  • The study presents two cases of PJS patients who underwent PGT-M, discussing the awareness of this option as well as the technical and ethical challenges involved.
  • Despite the potential of PGT-M for PJS patients, the process can be lengthy and requires dedication due to various ethical dilemmas and complexities that may arise.

Article Abstract

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 variant in . 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 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.

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Source
http://dx.doi.org/10.1080/00365521.2022.2129031DOI Listing

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