Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.

ABSTRACT:

Background

Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots.

Objective

We describe developments and outcomes from the first 10 years of this program (February 1, 2009, to January 31, 2019).

Methods

TREC values, diagnostic, and outcome data from all patients screened for SCID were evaluated.

Results

NBS of 720,038 infants prompted immunologic evaluation of 237 (0.03%). Of 237, 9 were diagnosed with SCID/leaky SCID (4% of referrals vs 0.001% general population). Another 7 were diagnosed with other combined immunodeficiencies, and 3 with athymia. SCID/leaky SCID incidence was approximately 1 in 80,000, whereas approximately 1 in 51,000 had se

SUBMITTER: Hale JE 

PROVIDER: S-EPMC8113135 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature