Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis

Tina Gonzalez; Alison McLean; Jane Fleming; Katrina Morris; Melissa Pacque; Caitlin Forwood; Claire Wong; Sue-Faye Siow; Sarah Barter; Kristi J Jones; Katharine Drummond; Yemima Berman

doi:10.1002/jgc4.1997

Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis

J Genet Couns. 2024 Nov 26. doi: 10.1002/jgc4.1997. Online ahead of print.

Authors

Tina Gonzalez¹, Alison McLean¹, Jane Fleming^{1

2}, Katrina Morris^{1

2

3}, Melissa Pacque¹, Caitlin Forwood¹, Claire Wong¹, Sue-Faye Siow^{1

2}, Sarah Barter¹, Kristi J Jones^{4

5}, Katharine Drummond^{6

7}, Yemima Berman^{1

2}

Affiliations

¹ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
² Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.
³ Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
⁴ Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
⁵ Kids Neuroscience, Children's Hospital at, Westmead, New South Wales, Australia.
⁶ Department of Neurosurgery, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
⁷ Department of Surgery, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

PMID: 39588641
DOI: 10.1002/jgc4.1997

Abstract

Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences and the barriers and enablers to reproductive decision-making are poorly understood. The purpose of this study was to explore the opinions and experiences of individuals with NF in Australia and inform the development of practice recommendations and resources. Focus groups with adults with NF were conducted using a semi-structured interview schedule developed by the research team. Partners were also invited. The focus groups were recorded, de-identified, transcribed, and analyzed using codebook thematic analysis. Three focus groups were conducted with 17 participants (12 = NF1, 4 = NF2-related schwannomatosis [NF2-SWN] and one partner). Three themes were identified: (1) Barriers and enablers; (2) Contemplating the options; and (3) Education and support needs. Barriers to reproductive decision-making included: difficulty accessing healthcare services to discuss reproductive planning; a lack of access to reliable information sources and support; and, in some cases, the financial cost of assistive reproductive technology. Conversely, positive healthcare experiences and support systems enabled reproductive choices. Participants reported many factors that contributed to their reproductive decisions, including: their personal experience of their condition; concern about their future health and that of an affected child; the impact of pregnancy on their health; and the opinion of healthcare providers, family, and friends. Many participants reported mental health difficulties related to their condition and additional stressors related to the reproductive journey. Participants' recommendations included increased access to healthcare services to discuss reproductive options, the development of comprehensive information resources, and improved psychological and peer support for individuals with NF considering family planning and, where relevant, their partners. In conclusion, people with NF and their partners identify a need for improved awareness of NF among healthcare professionals and increased access to appropriate services, information, and support to facilitate informed reproductive decision-making.

Keywords: decision‐making; family planning; neurofibromatosis; preconception; schwannomatosis.

Grants and funding

Flicker of Hope Foundation