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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21 April 2017
An erratum to this article has been published.
References
Agochukwu, N. B., Solomon, B. D., & Muenke, M. (2012). Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nervous System, 28(9), 1447–1463. doi:10.1007/s00381-012-1756-2.
Agochukwu, N. B., Solomon, B. D., Benson, L. J., & Muenke, M. (2013). Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. American Journal of Medical Genetics A, 161A(3), 453–460. doi:10.1002/ajmg.a.35233.
Allyse, M., Sayres, L. C., Goodspeed, T. A., & Cho, M. K. (2014). Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. Journal of Perinatology, 34(6), 429–434. doi:10.1038/jp.2014.30.
Anderson, G. (2007). Patient decision-making for clinical genetics. Nursing Inquiry, 14(1), 13–22.
Aspinwall, L. G., Taber, J. M., Kohlmann, W., Leaf, S. L., & Leachman, S. A. (2014). Perceived risk following melanoma genetic testing: A 2-year prospective study distinguishing subjective estimates from recall. Journal of Genetic Counseling, 23(3), 421–437.
Beeson, D., Golbus, M. S., Opitz, J. M., & Reynolds, J. F. (1985). Decision making: Whether or not to have prenatal diagnosis and abortion for X-linked conditions. American Journal of Medical Genetics, 20(1), 107–114.
Benjamin, C. M., Colley, A., Donnai, D., Kingston, H., Harris, R., & Kerzin-Storrar, L. (1993). Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families. Journal of Medical Genetics, 30(7), 567–574.
Berlin, K. S., Sass, D. A., Davies, W. H., Jandrisevits, M. D., & Hains, A. A. (2005). Cystic fibrosis disclosure may minimize risk of negative peer evaluations. Journal of Cystic Fibrosis, 4(3), 169–174.
Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3, 77–101.
Burokas, L. (2013). Craniosynostosis: Caring for infants and their families. Critical Care Nurse, 33(4), 39–50 quiz 51. doi:10.4037/ccn2013678.
Cesaretti, C., Melloni, G., Quagliarini, D., Fogliani, R., Zaina, B., Bedeschi, M. F., et al. (2013). Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis. American Journal of Medical Genetics A, 161A(2), 386–388. doi:10.1002/ajmg.a.35720.
Chapple, A., May, C., & Campion, P. (1995). Lay understanding of genetic disease: A British study of families attending a genetic counseling service. Journal of Genetic Counseling, 4(4), 281–300.
Claes, E., Evers-Kiebooms, G., Boogaerts, A., Decruyenaere, M., Denayer, L., & Legius, E. (2003). Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. American Journal of Medical Genetics Part A, 116(1), 11–19.
D’Agincourt-Canning, L. (2001). Experiences of genetic risk: Disclosure and the gendering of responsibility. Bioethics, 15(3), 231–247.
Donoghue, L. J., Sahhar, M. A., Savarirayan, R., Raj, S., Kilpatrick, N. M., & Forrest, L. E. (2014). The impact of participation in genetic research for families with cleft lip with and without cleft palate: A qualitative study. Journal of Community Genetics, 5(3), 249–256.
Droter, D., Basiewicz, B., Irvin, N., Kennel, J., & Klaus, M. (1975). The adaption of parents to the birth of an infant with a congenital malformation: A hypothetical model. Paediatrics, 56, 710–717.
Dyson, S. M., Atkin, K., Culley, L. A., Dyson, S. E., Evans, H., & Rowley, D. T. (2010). Disclosure and sickle cell disorder: A mixed methods study of the young person with sickle cell at school. Social Science & Medicine, 70(12), 2036–2044.
Escobar, L. F., Hiett, A. K., & Marnocha, A. (2009). Significant phenotypic variability of Muenke syndrome in identical twins. American Journal of Medical Genetics Part A, 149A(6), 1273–1276. doi:10.1002/ajmg.a.32841.
Fajardo, B. (1987). Parenting a damaged child: Mourning, regression, and disappointment. Psychoanalytic Review, 74(1), 19–43.
Forrest, L. E., Curnow, L., Delatycki, M. B., Skene, L., & Aitken, M. (2008). Health first, genetics second: Exploring families' experiences of communicating genetic information. European Journal of Human Genetics, 16(11), 1329–1335.
Gillham, B. (2005). Research Interviewing: The range of techniques: A practical guide. McGraw-Hill Education (UK).
Gotz, I., & Gotz, M. (2006). How and why parents change their attitudes to prenatal diagnosis. Clinical Child Psychology and Psychiatry, 11, 293–300.
Graham Jr., J. M., Braddock, S. R., Mortier, G. R., Lachman, R., Van Dop, C., & Jabs, E. W. (1998). Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. American Journal of Medical Genetics, 77(4), 322–329.
Hertz, R. (1995). Separate but simultaneous interviewing of husbands and wives: Making sense of their stories. Qualitative Inquiry, 1(4), 429–451.
Higa, L. A., McDonald, J., Himes, D. O., & Rothwell, E. (2016). Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: A qualitative analysis. Journal of Community Genetics, 7(1), 81–89.
Hill, M., Compton, C., Lewis, C., Skirton, H., & Chitty, L. S. (2012). Determination of foetal sex in pregnancies at risk of haemophilia: A qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia, 18(4), 575–583. doi:10.1111/j.1365-2516.2011.02653.x.
Hill, M., Compton, C., Karunaratna, M., Lewis, C., & Chitty, L. (2014). Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. Journal of Genetic Counselling, 23(6), 1012–1021. doi:10.1007/s10897-014-9725-4.
Jacobs, C., Dancyger, C., Smith, J. A., & Michie, S. (2015). Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives. European Journal of Human Genetics, 23(2), 147–151.
Johnson, D., & Wilkie, A. O. (2011). Craniosynostosis. European Journal of Human Genetics, 19(4), 369–376. doi:10.1038/ejhg.2010.235.
Jones, E. E. (1984). Social stigma: The psychology of marked relationships. New York. W.H. Freeman.
Kenen, R., Smith, A. C., Watkins, C., & Zuber-Pittore, C. (2000). To use or not to use: Male Partners' perspectives on decision making about prenatal diagnosis. Journal of Genetic Counselling, 9(1), 33–45. doi:10.1023/A:1009429106757.
Kessler, S., Kessler, H., & Ward, P. (1984). Psychological aspects of genetic counseling. III. Management of guilt and shame. American Journal of Medical Genetics, 17(3), 673–697. doi:10.1002/ajmg.1320170320.
Klitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. (2007). Decision-making about reproductive choices among individuals at-risk for Huntington's disease. Journal of Genetic Counseling, 16(3), 347–362.
Kruszka, P., Addissie, Y. A., Yarnell, C. M., Hadley, D. W., Guillen Sacoto, M. J., Platte, P., et al. (2016). Muenke syndrome: An international multicenter natural history study. American Journal of Medical Genetics A. doi:10.1002/ajmg.a.37528.
Lehmann, L. S., Weeks, J. C., Klar, N., Biener, L., & Garber, J. E. (2000). Disclosure of familial genetic information: Perceptions of the duty to inform. The American Journal of Medicine, 109(9), 705–711.
Marteau, T. M., Kidd, J., Cook, R., Michie, S., Johnston, M., Slack, J., & Shaw, R. W. (1991). Perceived risk not actual risk predicts uptake of amniocentesis. An International Journal of Obstetrics & Gynaecology, 98(3), 282–286.
McDaniel, S. H. (2005). The psychotherapy of genetics. Family Process, 44(1), 25–44.
Metcalfe, A., Plumridge, G., Coad, J., Shanks, A., & Gill, P. (2011). Parents’ and children's communication about genetic risk: A qualitative study, learning from families' experiences. European Journal of Human Genetics, 19(6), 640–646. doi:10.1038/ejhg.2010.258.
Michie, S., French, D., Allanson, A., Bobrow, M., & Marteau, T. M. (1997). Information recall in genetic counselling: A pilot study of its assessment. Patient Education and Counseling, 32(1), 93–100.
Modi, A. C., Quittner, A. L., & Boyle, M. P. (2010). Assessing disease disclosure in adults with cystic fibrosis: The adult data for understanding lifestyle and transitions (ADULT) survey disclosure of disease in adults with cystic fibrosis. BMC Pulmonary Medicine, 10(1), 1.
Moloney, D. M., Wall, S. A., Ashworth, G. J., Oldridge, M., Glass, I. A., Francomano, C. A., et al. (1997). Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet, 349(9058), 1059–1062.
Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., et al. (1997). A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. American Journal of Human Genetics, 60(3), 555–564.
Myring, J., Beckett, W., Jassi, R., Roberts, T., Sayers, R., Scotcher, D., & McAllister, M. (2011). Shock, adjust, decide: Reproductive decision making in cystic fibrosis (CF) carrier couples--a qualitative study. Journal of Genetic Counselling, 20(4), 404–417. doi:10.1007/s10897-011-9363-z.
Nelson, P. A., Kirk, S. A., Caress, A. L., & Glenny, A. M. (2012). Parents' emotional and social experiences of caring for a child through cleft treatment. Qualitative Health Research, 22(3), 346–359. doi:10.1177/1049732311421178.
Piazza, J., & Bering, J. M. (2010). The coevolution of secrecy and stigmatization. Human Nature, 21(3), 290–308.
Ponder, M., Murton, F., Hallowell, N., Statham, H., Green, J., & Richards, M. (1998). Genetic counseling, reproductive behavior and future reproductive intentions of people with Neurofibromatosis type 1 (NF1). Journal of Genetic Counselling, 7(4), 331–344. doi:10.1023/A:1022020000598.
Quine, L., & Pahl, J. (1987). First diagnosis of severe handicap: A study of parental reactions. Developmental Medicine and Child Neurology, 29(2), 232–242.
Ritchie, J., & Lewis, J. (Eds). (2003). Qualitative Research Practice: A guide for social science students and researchers. London, UK: Sage publications.
Rumsey, N., & Harcourt, D. (2007). Visible difference amongst children and adolescents: Issues and interventions. Developmental Neurorehabilitation, 10(2), 113–123.
Shaw, A., & Hurst, J. A. (2009). I don't see any point in telling them': Attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic. Ethnicity and Health, 14(2), 205–224. doi:10.1080/13557850802071140.
Skirton, H., Goldsmith, L., & Chitty, L. S. (2015). An easy test but a hard decision: Ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. European Journal of Human Genetics, 23(8), 1004–1009. doi:10.1038/ejhg.2014.238.
Smith, J. A. (1995). Semi-structured interviewing and qualitative analysis. Rethinking Methods in Psychology, 1, 8–26.
Snowdon, C., & Green, J. M. (1997). Preimplantation diagnosis and other reproductive options: Attitudes of male and female carriers of recessive disorders. Human Reproduction, 12(2), 341–350.
Solnit, A. J., & Stark, M. H. (1961). Mourning and the birth of a detective child (Vol. 16, 523–537.).
Taylor, B., & de Vocht, H. (2011). Interviewing separately or as couples? Considerations of authenticity of method. Qualitative Health Research, 21(11), 1576–1587.
Terzi, Y. K., Oguzkan-Balci, S., Anlar, B., Aysun, S., Guran, S., & Ayter, S. (2009). Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: Importance of genetic counseling. Genetic Counselling, 20(2), 195–202.
Vos, J., Oosterwijk, J., Gómez-García, E., Menko, F., Jansen, A., Stoel, R., et al. (2011). Perceiving cancer-risks and heredity-likelihood in genetic-counseling: How counselees recall and interpret BRCA 1/2-test results. Clinical Genetics, 79(3), 207–218.
Watson, M., Duvivier, V., Walsh, M. W., Ashley, S., Davidson, J., Papaikonomou, M., et al. (1998). Family history of breast cancer: What do women understand and recall about their genetic risk? Journal of Medical Genetics, 35(9), 731–738.
Wilkie, A. O., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J., et al. (2010). Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics, 126(2), e391–e400. doi:10.1542/peds.2009-3491.
Wilson, B. J., Forrest, K., van Teijlingen, E. R., McKee, L., Haites, N., Matthews, E., & Simpson, S. A. (2004). Family communication about genetic risk: The little that is known. Community Genetics, 7(1), 15–24. doi:10.1159/000080300.
Wong-Gibbons, D. L., Kancherla, V., Romitti, P. A., Tyler, M. C., Damiano, P. C., Druschel, C. M., et al. (2009). Maternal reports of satisfaction with care and outcomes for children with craniosynostosis. Journal of Craniofacial Surgery, 20(1), 138–142. doi:10.1097/SCS.0b013e318190e28c.
Wu, R. L., Lawson, C. S., Jabs, E. W., & Sanderson, S. C. (2012). Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. American Journal of Medical Genetics Part A, 158A(7), 1556–1567. doi:10.1002/ajmg.a.35379.
Yarnell, C. M., Addissie, Y. A., Hadley, D. W., Guillen Sacoto, M. J., Agochukwu, N. B., Hart, R. A., et al. (2015). Executive function and adaptive behavior in Muenke syndrome. The Journal of Pediatrics, 167(2), 428–434. doi:10.1016/j.jpeds.2015.04.
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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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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DOI: https://doi.org/10.1007/s10897-017-0094-7