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Causal Genetic Variants in Stillbirth

Article Number: SIS534976AI110725
11th July, 2025
Author(s):
Kate E. Stanley, Jessica Giordano, Vanessa Thorsten, Christie Buchovecky, Amanda Thomas, Mythily Ganapathi, et al.
Abstract:

In most stillbirth cases, causes remain undetermined despite evaluation. This study applied exome sequencing to 246 stillborn cases, identifying molecular diagnoses in 6.1% of them. Variants were enriched in genes intolerant to loss of function mutations, especially those not previously associated with disease. These findings suggest a substantial portion of stillbirths may be due to novel genetic causes, underscoring the diagnostic value of exome sequencing in perinatal death cases.

Keywords:
stillbirth exome sequencing genetic variants loss-of-function fetal death
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