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Newborn screening for severe combined immunodeficiency in California

Newborn screening for severe combined immunodeficiency in California
Summary of newborn screening for SCID in California, including (A) number of infants at each stage of screening, (B) numbers and proportions of infants in regular (clear) versus intensive care (shaded) nurseries at each stage of the screening process, and (C) final diagnosis category for infants with T cell lymphopenia in each nursery type.
* Total infants screened included 91% cared for in a regular well-infant nursery or born at home and 9% cared for in a neonatal intensive care unit (NICU).
¶ Infants (47% from regular nurseries and 53% from NICUs) with a liquid blood sample tested after one positive or 2 incomplete TREC tests; this 0.17% of all births excludes 20 newborns with TREC-positive tests who either died or were lost to follow-up before a liquid blood sample could be obtained, plus 2 infants born in another state but who had positive TREC screens and relocated to California for follow-up.
Δ Infants with fewer than 1500 T cells/microL or <2% naïve CD3 CD4 CD45RA T helper cells (46% regular nursery and 54% NICU); this is 0.007% of the population, or 1 per 15,000 births.
Reproduced with permission from Pediatrics, Vol. 143, Page e20182300, Copyright © 2019 by the AAP.
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