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Published on: August 25, 2019
Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome
Anna Byrjalsen1, Laura Roos1, Tue Diemer2,3
1Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Insights
Preimplantation genetic testing for monogenic disorders (PGT-M) can help Peutz-Jeghers Syndrome (PJS) patients have healthy children. This genetic testing offers hope but requires persistence due to potential challenges.
Area of Science:
- Reproductive genetics
- Human genetics
- Medical genetics
Background:
- Peutz-Jeghers Syndrome (PJS) guidelines recommend prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M).
- Few viable pregnancies resulting from PGT-M for PJS have been documented.
- This highlights a gap in clinical application despite recommendations.
Observation:
- Two PJS cases undergoing PGT-M for STK11 variants are presented.
- Case 1 involved a pathogenic de novo STK11 variant, leading to a healthy birth after fertility treatment.
- Case 2 involved an inherited STK11 variant; PGT-M identified an unaffected blastocyst, but pregnancy was not viable.
Findings:
- PGT-M is a viable option for PJS patients seeking to avoid transmitting STK11 variants.
- Microsatellite polymorphic marker analysis is a key technique for PGT-M in PJS.
- Successful PGT-M for PJS can be achieved, though it may require multiple cycles and patient perseverance.
Implications:
- PGT-M offers reproductive options for individuals with PJS.
- Awareness and discussion of technical and ethical challenges are crucial for successful PGT-M implementation.
- Further research may optimize PGT-M protocols for hereditary tumor syndromes like PJS.
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.
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