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dc.contributor.authorPhipps, J
dc.contributor.authorSkirton, H
dc.date.accessioned2017-03-27T08:57:23Z
dc.date.available2017-03-27T08:57:23Z
dc.date.issued2017-03-25
dc.identifier.issn1059-7700
dc.identifier.issn1573-3599
dc.identifier.urihttp://hdl.handle.net/10026.1/8692
dc.description.abstract

<jats:title>Abstract</jats:title><jats:p>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.</jats:p>

dc.format.extent1130-1142
dc.format.mediumPrint-Electronic
dc.languageen
dc.language.isoen
dc.publisherWiley
dc.subjectGenetic counselling
dc.subjectPrenatal testing
dc.subjectMuenke syndrome
dc.subjectCraniosynostosis
dc.subjectNIPD
dc.titleA Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners
dc.typejournal-article
dc.typeArticle
plymouth.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/28332077
plymouth.issue5
plymouth.volume26
plymouth.publisher-urlhttp://dx.doi.org/10.1007/s10897-017-0094-7
plymouth.publication-statusPublished
plymouth.journalJournal of Genetic Counseling
dc.identifier.doi10.1007/s10897-017-0094-7
plymouth.organisational-group/Plymouth
plymouth.organisational-group/Plymouth/Faculty of Health
dc.publisher.placeUnited States
dcterms.dateAccepted2017-03-07
dc.rights.embargodate2018-3-22
dc.identifier.eissn1573-3599
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.1007/s10897-017-0094-7
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2017-03-25
rioxxterms.typeJournal Article/Review


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