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Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience

  • Fertility Preservation
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Preimplantation genetic testing (PGT-M) and prenatal diagnosis (PND) followed by medical termination of pregnancy when the fetus is affected are two procedures developed to avoid the transmission of a severe hereditary disease which can be proposed to females that carried BRCA pathogenic variants. These females can also be offered fertility preservation (FP) when diagnosed with cancer or even before a malignancy occurs. The aim of the study was to evaluate the acceptability and personal attitude of women carrying a BRCA mutation toward techniques that can prevent BRCA transmission to their progeny.

Methods

Female mutated for BRCA1 or BRCA2 were invited to complete an online survey of 49 queries anonymously between June and August 2022.

Results

A total of 87 participants responded to the online survey. Overall, 86.2% of women considered that PGT-M should be proposed to all BRCA mutation carriers regardless of the severity of the family history, and 47.1% considered or would consider PGT-M for themselves. For PND, these percentages were lower reaching 66.7% and 29.9%, respectively. Females with personal history of breast cancer or FP achievement were more prone to undergo PND for themselves despite the overall acceptability of this procedure. Among the subgroup who had undergone FP (n = 58), there was no significant difference in acceptance of principle and personal attitude toward PGT-M and PND compared to the group without FP.

Conclusion

BRCA pathogenic variants female carriers do need information about reproductive issues, even if they are not prone to undergo PGT-M nor PND for themselves.

Trial registration number

N/A.

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Data availability

The data available in this review article are available in the present manuscript.

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Author notes

  1. Charlotte Sonigo and Michael Grynberg contributed equally to this work.

Authors and Affiliations

  1. Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique, Hôpitaux de Paris, Antoine Beclere Hospital, F-92140, Clamart, France

    Traicie Dervin, Lucie Laot, Constance Duperier, Charlotte Sonigo & Michael Grynberg

  2. Department of Reproductive Medicine, CHU and University of Montpellier, 371 Avenue du Doyen Gaston, Giraud, 34090, Montpellier, France

    Noémie Ranisavjevic

  3. Service de Biologie de La Reproduction - CECOS, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, F-92140, Clamart, France

    Anne Mayeur & Nelly Frydman

  4. Université Paris Cité, Imagine INSERM UMR1163, Service de Médecine Génomique Des Maladies Rares, Groupe Hospitalier Necker-Enfants Malades, AP-HP, Paris, France

    Julie Steffann & Roxana Borghese

  5. Department of Genetics, Institut Curie, Université Paris Cité, Paris, France

    Dominique Stoppa-Lyonnet

  6. Department of Obstetrics and Gynecology, DMU Santé Des Femmes Et Des Nouveau-Nés, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, F-92140, Clamart, France

    Alexandra Benachi

  7. Université Paris Saclay, Inserm, Physiologie Et Physiopathologie Endocrinienne, F-94276, Le Kremlin-Bicêtre, France

    Charlotte Sonigo

Authors
  1. Traicie Dervin
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  2. Noémie Ranisavjevic
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  10. Alexandra Benachi
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  11. Charlotte Sonigo
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Contributions

Conceptualization: T.D, C.S, J.S., R.B., and M.G.; methodology: T.D, C.S., and M.G.; software: C.S.; validation: A.M., A.B., J.S., and M.G.; formal analysis: T.D and C.S.; investigation: T.D and C.S.; resources: C.S. and M.G; writing—original draft preparation: T.D and C.S; writing—review and editing: M.G., N.R, R.B, J.S, D.S.L, C.D, N.A.F, A.B.; visualization: C.S.; supervision: C.S and M.G; project administration: C.S. and M.G. All authors have read and agreed to the published version of the manuscript.

Corresponding author

Correspondence to Michael Grynberg.

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Dervin, T., Ranisavjevic, N., Laot, L. et al. Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience. J Assist Reprod Genet 40, 1381–1390 (2023). https://doi.org/10.1007/s10815-023-02798-9

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  • DOI: https://doi.org/10.1007/s10815-023-02798-9

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