Urgency categories in BRIDGES-NBS

Urgency category Recommendation Clinical rationale Representative examples
1. Urgent evaluation regardless of symptoms Primary care or specialist evaluation recommended within 1-2 days, even if the infant appears well. Affected infants may develop acute illness or sudden decompensation before symptoms are readily apparent, or sustain irreversible harm if treatment is delayed. Prompt assessment is needed to identify disease manifestations and initiate treatment or protective measures.
  • TPO-related hypothyroidism

  • ACADM-related medium-chain acyl-CoA dehydrogenase deficiency

  • SMN1-related spinal muscular atrophy

  • IL2RG-related immune dysregulation disorder

2. Urgency determined by symptoms

If symptomatic: 

Primary care or specialist evaluation recommended within 1-2 days.

If asymptomatic: 

Specialist evaluation recommended within 2-6 weeks.

Concerning signs or symptoms may indicate active disease requiring rapid assessment and treatment. Infants without concerning symptoms should undergo scheduled specialist evaluation to clarify disease status and guide management.
  • EPCAM-related congenital tufting enteropathy

  • NLRP3-related autoinflammatory disorder

  • STAT3-related Hyper-IgE syndrome

  • TP53-related Li-Fraumeni syndrome

3. Expedited evaluation for a specific time-sensitive intervention Specialist evaluation recommended within 1-2 weeks. Affected infants are not expected to develop acute illness or sudden decompensation. However, prompt initiation of a specific time-sensitive treatment may be needed to reduce complications or prevent irreversible morbidity.
  • PHEX-related hypophosphatemic rickets

  • ABCD1-related adrenoleukodystrophy

  • ARSB-related mucopolysaccharidosis type 6

  • SLC6A8-related cerebral creatine deficiency

4. Prompt specialist evaluation Specialist recommended within 2-6 weeks. Further evaluation requires condition-specific expertise to establish disease status, characterize manifestations, and determine the need for treatment or surveillance. 
  • IDUA-related mucopolysaccharidosis type 1

  • GALNS-related mucopolysaccharidosis type 4

  • CARD9-related candidiasis

  • CFTR-related cystic fibrosis and congenital absence of the vas deferens

5. Prompt primary care evaluation  Primary care evaluation recommended within 2-6 weeks, which may be at the infant’s next well-child check. Primary care clinicians can initiate evaluation, provide anticipatory guidance and preventive counseling, and coordinate condition-specific testing. Additional specialist referrals are guided by the findings and the infant’s and family’s care needs.
  • G6PD-related glucose-6-phosphate dehydrogenase deficiency

  • GJB2-related sensorineural hearing loss