{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:56:00Z","timestamp":1787237760935,"version":"build-2736575974"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007877","name":"Fujita Health University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007877","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Newborn screening (NBS) for Fabry disease (FD) is an effective way to identify individuals with FD before the onset of symptoms, enabling early therapeutic treatment. The classic form of FD typically begins in early childhood or later, but the late\u2010onset form often develops in adulthood. However, FD\u2010NBS identifies positive cases regardless of the expected timing of symptom onset. Consequently, concerns have been raised about prolonged uncertainty, medicalization, and caregivers' hypervigilance throughout the asymptomatic period. These issues are particularly salient for mothers, who are often heterozygous carriers and primary caregivers. Despite the growing implementation of FD\u2010NBS in some countries, the perspectives of parents, especially mothers, have not been adequately explored. This study explores the experiences, emotions, and needs of five mothers whose children were diagnosed with FD through NBS, aiming to uncover the psychological impact and support required during the asymptomatic period. Semistructured interviews were conducted and analyzed using the KJ (Kawakita Jiro) method, a kind of bottom\u2010up qualitative approach. The findings revealed that mothers experienced a psychological burden related to monitoring for disease onset. However, this burden was reduced by several factors, including an understanding of the timing of onset, the attending physician's opinions, the passage of time, and personalized coping strategies. Needs were identified for support in understanding the disease, as well as for spaces that facilitate empathy and information exchange. Opinions regarding FD\u2010NBS were generally positive; however, negative feelings were also expressed, including views that they did not have to discover their child's FD through NBS. These findings suggest that understanding the experiences of mothers of asymptomatic children and providing support, such as genetic counseling and peer support, could enhance the effectiveness of FD\u2010NBS.<\/jats:p>","DOI":"10.1002\/jgc4.70104","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T06:17:08Z","timestamp":1757398628000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3991-8378","authenticated-orcid":false,"given":"Noriko","family":"Sasaki","sequence":"first","affiliation":[{"name":"Matsunami Research Park  Kasamatsu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6944-4131","authenticated-orcid":false,"given":"Yoko","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University School of Medicine  Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukari","family":"Hibino","sequence":"additional","affiliation":[{"name":"Patient Support Center Central Japan International Medical Center  Minokamo Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rieko","family":"Fujie","sequence":"additional","affiliation":[{"name":"Medical Communication Fujita Health University School of Medicine  Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University School of Medicine  Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2697-0194","authenticated-orcid":false,"given":"Tamae","family":"Ohye","sequence":"additional","affiliation":[{"name":"Department of Genetic Counseling, Graduate School of Medical Sciences Fujita Health University  Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"issue":"2","key":"e_1_2_13_2_1","first-page":"240","article-title":"Genetic counseling","volume":"27","author":"American Society of Human Genetics","year":"1975","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010146\u20102\u2010200701160\u201000148"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2006.00692.x"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.4159\/9780674028845"},{"key":"e_1_2_13_6_1","volume-title":"Making human beings human: Bioecological perspectives on human development","author":"Bronfenbrenner U.","year":"2005"},{"key":"e_1_2_13_7_1","unstructured":"Chair Letter to Nominator. (2008).https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory\u2010committees\/heritable\u2010disorders\/fabry\u2010letter\u2010committee.pdf"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8030043"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010007\u20100521\u20102"},{"key":"e_1_2_13_11_1","unstructured":"Fabry NEXT. 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