ArticleAdvances in therapy2025
When Primary Ciliary Dyskinesia Is Diagnosed in Utero: Insights from Two Families.
Article in Advances in therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
introductionPrimary 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.
methodsA 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.
resultsFive 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.
conclusionParental 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.
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