Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review.

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY
Motoaki Kinugawa, Mari Ichinose, Haruka Matsui, Zeng Xiang, Seisuke Sayama, Masatake Toshimitsu, Takahiro Seyama, Hitomi Masuda, Hikoro Matsui, Keiichi Kumasawa, Takayuki Iriyama, Yasushi Hirota, Yutaka Osuga
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Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked 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-year-old primipara woman was incidentally noted to have premature ventricular contractions, heart failure, and elevated creatine kinase levels 2 years 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 weeks 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-making and to achieve favorable perinatal outcomes.

有症状的杜兴氏肌肉萎缩症携带者通过孕前保健成功怀孕:病例报告和文献综述。
杜氏肌营养不良症(DMD)是一种 X 连锁隐性遗传疾病。女性携带者会在怀孕期间出现症状,从而使受孕前的诊断和遗传咨询变得复杂。本报告首次报道了一名有症状的 DMD 携带者,她在受孕前就已发现症状,并从受孕前到怀孕期间一直接受治疗。一名 31 岁的初产妇在怀孕前 2 年偶然发现患有室性早搏、心力衰竭和肌酸激酶水平升高。基因检测证实,患者是无症状的 DMD 携带者。她没有肌肉或心脏疾病的家族史,这表明是一种新生变异体。她接受了遗传咨询,并计划在怀孕期间进行羊膜穿刺作为产前诊断。在接受比索洛尔和非卡尼治疗后,她的心功能有所改善,并实现了自然受孕。妊娠 16 周时进行的羊膜腔穿刺显示其核型为 46,XX,因此决定继续妊娠。从第 16 周到第 21 周,胎儿因心房早搏受阻而出现心动过缓,虽然房室间期延长,但后来有所改善。母亲经阴道分娩,未出现任何并发症,婴儿的房室间期恢复正常。针对 DMD 携带者身份的孕前诊断和治疗对于共同决策和实现良好的围产期预后至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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