Summary Summary Short summary of a recent publication, written by scientific experts.

Whole-exome sequencing identifies monogenic causes of unexplained perinatal intracranial hemorrhage

Takeaway

  • Idiopathic perinatal intracranial hemorrhage is often linked to rare pathogenic genetic variants.

Why this matters

    Perinatal intracranial hemorrhage occurs during the fetal/neonatal period and can severely impact neurological outcomes. However, the causes of perinatal intracranial hemorrhage are unknown and identifying these is crucial to determine prognosis and recurrence risk, and to guide clinical management. These novel data support the use of whole-exome sequencing for unexplained perinatal intracranial hemorrhage cases, irrespective of family history.

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Paediatric Neurology Monogenic Neonatal Whole exome sequencing Phenotype Idiopathic perinatal intracranial hemorrhage