The NABER will administer a national voluntary registry of neonates with Acute Bilirubin Encephalopathy (ABE) in the USA over a 36-month period. Qualifying infants will receive 28-gene panel sequencing at no charge.
A Registry with Free Next Generation Sequencing
- ABE occurs in ˜1 per 60,000 births in the U.S.
- Previous publications report that ˜50% of neonates with a bilirubin ≥ 30 mg/dl have no clear explanation found for their jaundice.
- The University of Utah with ARUP Laboratories developed a 28-gene Next Generation Sequencing (NGS) panel to discover underlying genetic contributors to ABE.
- We have subsequently identified 7 cases of ABE among just over 428,000 live births (1 per 61,147 births) in Utah. Using the NGS panel, a genetic cause was found in all cases. None were “idiopathic” and all had hemolysis.
- NABER is a 36-month national voluntary registry designed to conduct root-cause analysis of ABE cases in the USA.
- Qualifying infants will receive 28-gene sequencing panel at no charge.
- Participation in the NABER will require parental consent. Information and consent forms can be found on the kernicterus-registry.org website. Though the attending physician will provide forms to the family, questions regarding the study should be directed to study personal at the Unviersity of Utah by phone or email. Participation will require a 1 mL blood sample collected in an ETDA (purple-top) tube.
How to Enroll a Newborn
Any physician can enroll a qualifying newborn. The patient must be ≤14 days old and have:
- total serum bilirubin ≥ 28mg/dl (or have undergone an exchange transfusion)
- signs of moderate to severe encephalopathy; BIND ≥4 (see below)
|Piercing shrill, frequently decreased or increased||2|
|Inconsolable or cries only with stimulation||3|
|Behavior and Mental Status||Normal||0|
|Sleepy, poor feeding||1|
|Lethargy, very poor feeding, irritable||2|
|Semi-coma, intermittent apnea, seizures||3|
|Moderate hyper or hypotonia, posturing, bicycling, nuchal or truncal arching||2|
|Sever hyper or hypotonia, opsithotonus, fever||3|
Score 1-3, mild ABE; 4-6, moderate ABE; 7-9, severe ABE (Bhutani and Johnson, Pediatrics, 1999).
Timothy M. Bahr, MS, MD
Robert D. Christensen, MD
Archana M. Agarwal, MD
Tracy I. George, MD
Vinod K. Bhutani, MD