Perinatal hypoxic-ischemic encephalopathy is a rare severe condition in which neonates present with encephalopathy and a clinical history suggestive of prenatal or perinatal hypoxic-ischemic injury. Emerging evidence suggests that genetic conditions are frequently identified in cases of perinatal HIE; however, it is unclear which neonates with this diagnosis warrant genetic testing. This study will offer clinical genome sequencing to neonates with HIE who are undergoing total body cooling (therapeutic hypothermia) and their parents.
Delivery ≥35w0d gestation
Diagnosed with moderate or severe HIE, or HIE with seizures
Undergoing total body cooling / therapeutic hypothermia
Able to provide blood or buccal samples during birth hospitalization
Parents/family not willing to allow participation
Inability to collect sufficient neonatal blood samples (in some circumstances, a buccal swab may be used as backup)