{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T03:57:35Z","timestamp":1789617455460,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,31]],"date-time":"2024-10-31T00:00:00Z","timestamp":1730332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Duchenne Muscular Dystrophy (DMD) is an X\u2010linked recessive disorder. Female carriers can manifest symptoms during pregnancy, complicating diagnosis and genetic counseling before conception. This is the first report of a DMD symptomatic carrier who was managed continuously from preconception through pregnancy for symptoms recognized before conception. A 31\u2010year\u2010old primipara woman was incidentally noted to have premature ventricular contractions, heart failure, and elevated creatine kinase levels 2\u2009years before pregnancy. Genetic testing confirmed that the patient was a symptomatic carrier of DMD. She had no family history of muscular or cardiac disease, suggesting a de novo variant. She received genetic counseling and planned amniocentesis during pregnancy as prenatal diagnosis. After treatment with bisoprolol and flecainide, her cardiac function improved, and natural conception was achieved. Amniocentesis performed at 16\u2009weeks of gestation indicated a 46, XX karyotype, leading to the decision to continue the pregnancy. From week 16 to 21, the fetus exhibited bradycardia due to blocked premature atrial contraction, which later improved, although the atrioventricular interval was prolonged. The mother delivered vaginally without any complications, and the infant's atrioventricular interval normalized. Preconceptional diagnosis and treatment for DMD carrier status are crucial for shared decision\u2010making and to achieve favorable perinatal outcomes.<\/jats:p>","DOI":"10.1002\/ajmg.a.63926","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T03:35:07Z","timestamp":1730432107000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review"],"prefix":"10.1002","volume":"197","author":[{"given":"Motoaki","family":"Kinugawa","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine The University of Tokyo  Tokyo 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