Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population.

ABSTRACT:

Background

Prematurity presents a diagnostic challenge in interpreting primary immunodeficiency (PID) testing.

Methods

We retrospectively reviewed the charts of all infants in our level IV referral neonatal intensive care unit (NICU) in Massachusetts, with immunologic testing performed from 2006 to 2018.

Results

The overall rate of PID testing was enriched in our population, with 1% of admitted patients having extended immunologic testing. The addition of TREC (T cell receptor excision circle) newborn screening in Massachusetts in 2009 increased the proportion of infants tested for PID in our NICU by 3-fold (1.21% post-newborn screening (NBS) vs. 0.46% pre-NBS). A majority of the term and late preterm (≥34 weeks) infants (31 of 41, 76%), as well as very premature (29-

SUBMITTER: Frazer LC 

PROVIDER: S-EPMC8287644 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature