{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T06:49:32Z","timestamp":1777531772664,"version":"3.51.4"},"reference-count":63,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2017,10]]},"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\u2010structured 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>","DOI":"10.1007\/s10897-017-0094-7","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T07:49:23Z","timestamp":1490255363000},"page":"1130-1142","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8801-0208","authenticated-orcid":false,"given":"Julie","family":"Phipps","sequence":"first","affiliation":[{"name":"Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK"},{"name":"Faculty of Health and Human Sciences University of Plymouth Plymouth UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Skirton","sequence":"additional","affiliation":[{"name":"Faculty of Health and Human Sciences University of Plymouth Plymouth UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-012-1756-2"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35233"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2014.30"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1800.2007.00349.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-013-9676-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200113"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.7.567"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2005.05.012"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1191\/1478088706qp063oa"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.4037\/ccn2013678"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35720"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01408074"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10868"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-8519.00234"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-014-0183-3"},{"key":"e_1_2_11_17_1","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1542\/peds.56.5.710","article-title":"The adaption of parents to the birth of an infant with a congenital mal\u2010formation: A hypothetical model","volume":"56","author":"Droter D.","year":"1975","journal-title":"Paediatrics"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2010.03.010"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32841"},{"issue":"1","key":"e_1_2_11_20_1","first-page":"19","article-title":"Parenting a damaged child: Mourning, regression, and disappointment","volume":"74","author":"Fajardo B.","year":"1987","journal-title":"Psychoanalytic Review"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.104"},{"key":"e_1_2_11_22_1","volume-title":"Research Interviewing: The range of techniques: A practical guide","author":"Gillham B.","year":"2005"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359104506061447"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<322::AID-AJMG14>3.0.CO;2-K"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/107780049500100404"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-015-0254-0"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2011.02653.x"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-014-9725-4"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.84"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.235"},{"key":"e_1_2_11_31_1","volume-title":"Social stigma: The psychology of marked relationships","author":"Jones E. 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