Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?

Area of Science:

• Genetics and Hereditary Diseases
• Neonatal Medicine
• Biochemistry

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent X-linked enzymopathy.
• It can cause severe hyperbilirubinemia, leading to acute bilirubin encephalopathy and kernicterus in newborns.
• Current neonatal G6PD deficiency testing is not standard practice in the US.

Purpose of the Study:

• To review the current state of G6PD deficiency screening in newborns in the United States.
• To identify research gaps and operational challenges for implementing universal newborn G6PD testing.
• To inform the development of a national consensus on G6PD screening.

Main Methods:

• Review of current literature and guidelines on G6PD deficiency screening.
• Analysis of existing screening test suitability for newborns.
• Examination of US birth hospital experiences with G6PD testing.

Main Results:

• Neonatal testing for G6PD deficiency is recommended by the American Academy of Pediatrics only for high-risk jaundiced newborns.
• Screening tests are available and suitable for newborns but US hospital experience is limited.
• No national consensus exists on the necessity, effectiveness, or optimal approach for universal newborn G6PD testing.

Conclusions:

• Significant research gaps and operational challenges hinder the implementation of universal newborn G6PD testing.
• Concurrent screening for G6PD deficiency and bilirubin in US newborns requires further investigation and consensus building.
• Addressing these challenges is crucial for preventing G6PD-related neonatal complications.