The HIEnome Study: Genome Sequencing for Perinatal HIE
Baylor College of Medicine
Summary
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.
Eligibility
- Age range
- 0–1 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 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 * Admitted to Texas Children's Hospital Main, West, or Woodlands NICU Exclusion Criteria: * 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)
Interventions
- GeneticGenome sequencing
Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.
Locations (2)
- Texas Children's HospitalHouston, Texas
- Texas Children's HospitalHouston, Texas