Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes

Shangling Lv, Haipeng Yang, Yuying Cui, Haiyan Yang · 2026

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Description

Shangling Lv, Haipeng Yang, Yuying Cui, and Haiyan Yang propose a simpler way for pregnancy doctors to handle rare genetic diseases, in a review published in 2026. Gene sequencing now turns up complex results in routine care, and disease-by-disease guides cannot cover the range. Clinicians need a shared frame that links a condition's biology to the right action.

The authors sort seven example diseases into four types, based on how they are inherited, when they strike, whether they can be tested for, and the risk to mother and baby. Each type maps to a distinct path, from acting in mid-pregnancy to preventing a condition before conception. Some conditions also endanger the mother herself, needing a protection plan alongside baby checks. The frame aims to improve talks between pregnancy doctors and gene specialists.

Catalog record

CREATORShangling Lv, Haipeng Yang, Yuying Cui, Haiyan Yang
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE22 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13194439

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