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To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence

31 Jul 2026

Abstract excerpt

As genomic newborn screening (gNBS) progresses toward broader implementation, questions arise regarding conditions to include on first-tier sequencing panels. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common monogenic disorder worldwide, is inconsistently screened in Europe despite its established role in neonatal hyperbilirubinemia and hemolytic crises. Using data from the Belgian BabyDetect...

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PMID: 42538390
DOI: 10.1038/s41431-026-02204-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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