Israel Amirav, Moria Beer, Dorit Redlich Amirav, Moran Lavie
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引用次数: 0
Abstract
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting ciliary function, leading to chronic respiratory ilness. Prenatal diagnosis remains uncommon, with most cases identified postnatally through clinical symptoms and genetic testing. However, advancements in prenatal screening have enabled earlier detection, presenting parents with complex medical and ethical dilemmas. This study explores parental decision-making following such a diagnosis, identifying key influencing factors and highlighting the role of healthcare providers in offering informed guidance.
Methods: A qualitative approach was used to analyze the experiences of two families facing a prenatal PCD diagnosis. Semi-structured interviews were conducted and analyzed using Braun & Clarke's thematic framework. Discussions with families focused on their concerns, reasoning, and ultimate choices.
Results: Five key themes emerged: (1) trust in doctors-parental decisions were strongly influenced by medical professionals' guidance; (2) quality of life-families considered both the child's well-being and the impact on existing family dynamics; (3) fertility concerns-reproductive opportunities influenced urgency in decision-making; (4) imagined future-parents weighed the long-term implications of raising a child with PCD; (5) spiritual resources-cultural and spiritual beliefs provided emotional support.
Conclusion: Parental decision-making following a prenatal PCD diagnosis is multifaceted, shaped by medical, emotional, and ethical considerations. Our findings underscore the need for healthcare providers to offer comprehensive, individualized counseling that balances clinical expertise with empathetic support, empowering parents to make informed choices.
期刊介绍：
Advances in Therapy is an international, peer reviewed, rapid-publication (peer review in 2 weeks, published 3–4 weeks from acceptance) journal dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of therapeutics and interventions (including devices) across all therapeutic areas. Studies relating to diagnostics and diagnosis, pharmacoeconomics, public health, epidemiology, quality of life, and patient care, management, and education are also encouraged.
The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, communications and letters. The journal is read by a global audience and receives submissions from all over the world. Advances in Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of all scientifically and ethically sound research.
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