Postnatal corticosteroid treatment as a risk factor for false positivity in severe combined immunodeficiency newborn...

Area of Science:

• Immunology
• Neonatal Screening
• Pediatrics

Background:

• Newborn screening programs aim to detect severe combined immunodeficiency (SCID) and other primary immunodeficiencies early.
• T cell receptor excision circles (TRECs) are DNA markers used in newborn screening to assess T cell development.
• Low TREC levels can indicate potential T cell lymphopenia, prompting further investigation.

Purpose of the Study:

• To investigate the reasons for referral in infants with low TREC levels detected during newborn screening.
• To identify potential factors contributing to false positive TREC screening results.

Main Methods:

• Retrospective review of 37 children referred due to low TREC levels since 2011.
• Detailed immunological characterization and follow-up of a subset of referred children.
• Analysis of medical histories, including medication use.

Main Results:

• Thirty-seven children were referred for low TREC levels between 2011 and the study period.
• Three children underwent thorough immunological assessment and clinical follow-up.
• Postnatal corticosteroid administration was identified as a potential factor associated with false positive TREC screening results.

Conclusions:

• Low TREC levels in newborn screening can lead to referrals for further evaluation.
• Postnatal corticosteroid therapy may interfere with TREC levels, potentially causing false positive results.
• Further research is needed to confirm the impact of corticosteroids on TREC-based newborn screening.