An update on the use of health information technology in newborn screening

Semin Perinatol. 2015 Apr;39(3):188-93. doi: 10.1053/j.semperi.2015.03.003. Epub 2015 Apr 29.


Newborn screening (NBS) has high-stakes health implications and requires rapid and effective communication between many people and organizations. Multiple NBS stakeholders worked together to create national guidance for reporting NBS results with HL7 (Health Level 7) messages that contain LOINC (Logical Observation Identifiers Names and Codes) and SNOMED-CT (Systematized Nomenclature of Medicine-Clinical Terms) codes, report quantitative test results, and use standardized computer-readable UCUM units of measure. This guidance (a LOINC panel and an example annotated HL7 message) enables standard HL7 v2.5.1 laboratory messages to carry the information required for reporting NBS results. Other efforts include HL7 implementation guides for reporting point-of-care (POC) NBS results as well as standardizing follow-up of patients diagnosed with conditions identified through NBS. If the guidance is used nationally, regional and national registries can aggregate results from state programs to facilitate research and quality assurance and help ensure continuity of operations following a disaster situation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Clinical Laboratory Information Systems
  • Computer Communication Networks
  • Humans
  • Infant, Newborn
  • Logical Observation Identifiers Names and Codes*
  • Medical Informatics* / trends
  • Neonatal Screening / trends*
  • Quality Assurance, Health Care
  • Systematized Nomenclature of Medicine*