戈谢病妇女妊娠管理的西班牙共识。

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY
Enrique J Calderón, Alicia Rodríguez-Fernández, Irene Calderón-Baturone, Rafael Aporta-Rodríguez, Francisco J Del Castillo, Lutgardo García-Díaz, Antonio González-Meneses, María Lourdes Hermosín-Ramos, Raquel Yahyaoui, Ignacio Marín-León
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引用次数: 0

摘要

戈谢病可对妊娠、分娩和哺乳的发育产生影响,对母亲和新生儿的健康都有影响。戈谢病患者的妊娠管理因使用酶替代疗法而进一步复杂化。不幸的是,现有的科学证据并不是结论性的,因为在这个问题上没有适当的临床试验。这项工作的目的是建立一个管理指南,以解决怀孕前、怀孕期间和怀孕后的主要临床问题,并向保健专业人员、患者和家庭提供关键信息。本指南采用GRADE方法评估科学证据的质量并提出建议。对于最终建议,采用高歇专家小组的德尔菲法进行了结构化的共识2轮过程。在此过程中,9项建议与孕前状态和遗传咨询以及孕期管理有关,7项建议与分娩有关,8项建议侧重于分娩和母乳喂养后的管理。关于证据的质量,还考虑了患者的价值和偏好。考虑到现有的最佳证据,在专家意见的补充下,定义和规范戈谢病妊娠管理的共识指南可能是一个相关的工具,可以帮助缺乏戈谢病经验的患者、护士、助产士和医生,他们无法获得戈谢病卓越治疗中心的指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spanish consensus on managing pregnancy in women with Gaucher disease.

Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn. Management of pregnancies in Gaucher patients is further complicated by using of enzyme replacement therapy. Unfortunately, the available scientific evidence is not conclusive because there are not proper clinical trials on this issue. The aim of this work was to establish a management guide to address the main clinical problems before, during and after pregnancy and to provide key information to healthcare professionals, patients, and families. GRADE methodology to evaluate the quality of scientific evidence and develop recommendations was incorporated to elaborate this guide. For final recommendations, a structured consensus 2-round process was carried out using the Delphi method with a Gaucher expert panel. After this process, nine recommendations were elaborated related to pre-pregnant status and genetic counseling and for management during pregnancy, seven related to childbirth, and eight focused on management after delivery and breastfeeding. Regarding the quality of the evidence, values and preferences of patients were also considered. A consensus guide to define and standardize pregnancy management in Gaucher disease considering the best available evidence, complemented by experts' opinions, could be a relevant tool to help patients, nurses, midwives and physicians with little experience in Gaucher disease who do not have access to guidance from Gaucher disease treatment centers of excellence.

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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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