ReviewFrontiers in medicine2026
Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes.
Review in Frontiers in medicine, 2026. 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
Rapid advances in genomic sequencing increasingly expose obstetricians to complex and heterogeneous genetic information in routine clinical practice. Traditional disease-specific screening models are no longer sufficient to guide decision-making across the broad spectrum of rare disorders encountered in reproductive medicine. Frontline clinicians require a universal yet clinically intuitive framework that links the biological logic of disease to the most appropriate obstetric intervention. In this review, we selected seven representative rare diseases as clinical models and reorganized them into four genetic archetypes according to inheritance pattern, age of onset, testability, and maternal-fetal risk. These archetypes illustrate distinct management pathways: targeted mid-trimester interception of
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