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Parental experiences and genetic counsellor roles in Pierre Robin sequence

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Abstract

Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn’s feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents’ perspective is lacking. The aim of this study is to understand parental experiences of having a child diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed with isolated PRS between 2 and 5 years prior. From these 14 interviews, eleven transcripts were analysed to find common themes and experiences. The diagnosis was confusing and overwhelming for participants during emotionally sensitive periods and little was understood about the cause of their child’s PRS. Those participants who did recall experiences with genetic services reported that they were minimal and uninformative. According to participant recollection, genetic counselling was rarely offered, despite there being a potential for this service in PRS. Genetic counselling would be a valuable source of information and support for parents both at the time of antenatal diagnosis, and potentially 6 to 12 months later in the outpatient environment when these children are all routinely reviewed by their clinical care team.

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Data availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The work conducted in this study was done so to fulfil a requirement for the degree of Master of Genetic Counselling.

Funding

No funding was sought or obtained for this study.

Author information

Authors and Affiliations

  1. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia

    Rhiannon Sandow & Tiong Yang Tan

  2. Sydney Ultrasound for Women, Sydney, NSW, Australia

    Rhiannon Sandow

  3. Department of Cancer Genetics, Royal Prince Alfred Hospital, Sydney, NSW, Australia

    Rhiannon Sandow

  4. The Royal Children’s Hospital, Melbourne, VIC, Australia

    Nicky M. Kilpatrick

  5. Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Nicky M. Kilpatrick, Tiong Yang Tan, Supriya Raj & Laura Elenor Forrest

  6. Victorian Clinical Genetics Services, Melbourne, VIC, Australia

    Tiong Yang Tan

  7. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia

    Laura Elenor Forrest

  8. Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia

    Laura Elenor Forrest

Authors
  1. Rhiannon Sandow
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  2. Nicky M. Kilpatrick
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  3. Tiong Yang Tan
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  4. Supriya Raj
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  5. Laura Elenor Forrest
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Contributions

Rhiannon Sandow:

• Substantial contributions to the conception or design of the work; acquisition, analysis, and interpretation of data for the work

• Drafting the work and revising it critically for important intellectual content

• Final approval of the version to be published

• Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved

Nicky Kilpatrick:

• Substantial contributions to the conception or design of the work; acquisition, analysis, and interpretation of data for the work

• Revising the work critically for important intellectual content

Tiong Yang Tan:

• Substantial contributions to the conception or design of the work; acquisition, analysis, and interpretation of data for the work

• Revising the work critically for important intellectual content

Supriya Raj:

• Substantial contributions to the conception or design of the work; acquisition, analysis, and interpretation of data for the work

• Revising the work critically for important intellectual content

Laura Forrest:

• Substantial contributions to the conception or design of the work; acquisition, analysis, and interpretation of data for the work

• Drafting and revising the work critically for important intellectual content

• Final approval of the version to be published

Corresponding author

Correspondence to Laura Elenor Forrest.

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Conflict of interest

The authors of this article declare that they have no conflicts of interest in the undertaking of this research study.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the Royal Children’s Hospital Human Research Ethics Committee. Informed consent was obtained from each participant before any interviews were conducted.

Animal studies

No animal studies were carried out by the authors for this article.

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Sandow, R., Kilpatrick, N.M., Tan, T.Y. et al. Parental experiences and genetic counsellor roles in Pierre Robin sequence. J Community Genet 11, 475–484 (2020). https://doi.org/10.1007/s12687-020-00466-4

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  • DOI: https://doi.org/10.1007/s12687-020-00466-4

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