Acute neonatal bilirubin encephalopathy in the State of Utah 2009-2018.

Herein we report a case series of seven newborn infants, all apparently well at birth, who in the period since 2009 were cared for in the State of Utah with acute bilirubin encephalopathy (ABE). This report summarizes our attempts to define common features of these seven through a state-wide voluntary registry, as a step toward devising new means of preventing such cases in the future. In previous reports of ABE, many of the affected neonates had no clearly defined explanation for their progressive hyperbilirubinemia. Our efforts to identify clear explanations in all seven cases included next generation DNA sequencing, testing a panel of 28 genes involved in bilirubin production and metabolism. We found that hemolytic disease was a unifying feature of these seven; two had DAT (+) Anti-D or anti-c hemolysis, while five had confirmed mutations in genes involved in bilirubin production and or metabolism that were previously unrecognized in these families.