Causal Genetic Variants in Stillbirth

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.

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.