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A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners

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Journal of Genetic Counseling

An Erratum to this article was published on 21 April 2017

This article has been updated

Abstract

Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation. We used a qualitative approach based on thematic analysis and collected data using individual semi-structured interviews with eight parents. Five key themes were: The Muenke journey; Impact and knowledge of diagnosis; Knowledge and attitude to prenatal testing; Stigma and sharing of information; and Information retention. Knowledge of Muenke syndrome and prenatal testing was poor. Genetic information was provided when treatment of their affected child was their paramount concern. Couples reported not sharing genetic information with family due to fear of stigmatisation. Couples cannot make reproductive decisions if lacking appropriate understanding of the choices: timely genetic counselling regarding prenatal testing is needed when relevant to them.

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Change history

  • 21 April 2017

    An erratum to this article has been published.

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Acknowledgements

Participating families of the Oxford Craniofacial Unit. Professor Andrew Wilkie. Dr. Deirdre Cilliers. Mr. David Johnson. Mr. Steve Wall. Miss Helen Lord.

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Authors and Affiliations

  1. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

    Julie Phipps

  2. Faculty of Health and Human Sciences, University of Plymouth, Plymouth, UK

    Julie Phipps & Heather Skirton

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  1. Julie Phipps
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  2. Heather Skirton
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Correspondence to Julie Phipps.

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Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).

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This article does not contain any studies with animals performed by any of the authors.

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was obtained from all patients for being included in the study.

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An erratum to this article is available at https://doi.org/10.1007/s10897-017-0103-x.

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Phipps, J., Skirton, H. A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. J Genet Counsel 26, 1130–1142 (2017). https://doi.org/10.1007/s10897-017-0094-7

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