Genetic testing and reproductive intervention for 210 Chinese pedigrees affected with Hemophilia.

Genetic testing and reproductive interventions (PGT/PND) in 210 Chinese hemophilia pedigrees

This retrospective study of 210 Chinese hemophilia A (n=176) and B (n=34) pedigrees describes the pathogenic variant spectrum in F8 and F9 and reproductive intervention strategies deployed between 2011 and 2024. PGT and prenatal diagnosis outcomes are documented.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Hemophilia remains a paradigmatic example of reproductive genetics: serious X-linked disease, essential carrier screening, well-established PGT and PND. This large Chinese cohort adds mutational spectrum and reproductive strategy outcome data in a distinct population context.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 7/10