Preimplantation genetic testing in two Danish couples affected by Peutz–Jeghers syndrome

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 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.

Keywords:

• Preimplantation genetic testing
• Peutz–Jeghers syndrome
• tumor predisposition syndrome
• family planning
• PGT

Disclosure statement

To the best of our knowledge, no conflict of interest, financial or other, exists.

Data availability statement

All data is submitted.

Ethical approval

Both patients provided written consent to this publication.

Author contributions

AMJ had the initial idea for the article. AB wrote the first draft. LR, JGK, TD, KL and AMJ commented on the manuscript. AB submitted the manuscript.

Code availability

Not applicable.

Additional information

Funding

This study did not receive any financial support.