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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

ABSTRACT: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.Epidemiological and retrospective observational study.Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test.Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.

SUBMITTER: Kwan A

PROVIDER: S-EPMC4492158 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan Antonia A Abraham Roshini S RS Currier Robert R Brower Amy A Andruszewski Karen K Abbott Jordan K JK Baker Mei M Ballow Mark M Bartoshesky Louis E LE Bonilla Francisco A FA Brokopp Charles C Brooks Edward E Caggana Michele M Celestin Jocelyn J Church Joseph A JA Comeau Anne Marie AM Connelly James A JA Cowan Morton J MJ Cunningham-Rundles Charlotte C Dasu Trivikram T Dave Nina N De La Morena Maria T MT Duffner Ulrich U Fong Chin-To CT Forbes Lisa L Freedenberg Debra D Gelfand Erwin W EW Hale Jaime E JE Hanson I Celine IC Hay Beverly N BN Hu Diana D Infante Anthony A Johnson Daisy D Kapoor Neena N Kay Denise M DM Kohn Donald B DB Lee Rachel R Lehman Heather H Lin Zhili Z Lorey Fred F Abdel-Mageed Aly A Manning Adrienne A McGhee Sean S Moore Theodore B TB Naides Stanley J SJ Notarangelo Luigi D LD Orange Jordan S JS Pai Sung-Yun SY Porteus Matthew M Rodriguez Ray R Romberg Neil N Routes John J Ruehle Mary M Rubenstein Arye A Saavedra-Matiz Carlos A CA Scott Ginger G Scott Patricia M PM Secord Elizabeth E Seroogy Christine C Shearer William T WT Siegel Subhadra S Silvers Stacy K SK Stiehm E Richard ER Sugerman Robert W RW Sullivan John L JL Tanksley Susan S Tierce Millard L ML Verbsky James J Vogel Beth B Walker Rosalyn R Walkovich Kelly K Walter Jolan E JE Wasserman Richard L RL Watson Michael S MS Weinberg Geoffrey A GA Weiner Leonard B LB Wood Heather H Yates Anne B AB Puck Jennifer M JM Bonagura Vincent R VR

JAMA 20140801 7

<h4>Importance</h4>Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.<h4>Objectives</h4>To present data from a spect ...[more]

PMID: 25138334

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Project description:BackgroundPublic health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia.ObjectivesThis study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge.MethodsA systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs.ResultsThe study's recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance.ConclusionsBy bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.

Project description:Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS) program. This important, life-saving screening test is available at no cost for every newborn in Israel. Eight SCID patients were diagnosed through the NBS program in its first year, revealing an incidence of 1:22,500 births in the Israeli population. Consanguine marriages and Muslim ethnic origin were found to be a risk factor in affected newborns, and a founder effect was detected for both IL7R? and DCLRE1C deficiency SCID. Lymphocyte subset analysis and TREC quantification in the peripheral blood appear to be sufficient for confirmation of typical and leaky SCID and ruling out false positive (FP) results. Detection of secondary targets (infants with non-SCID lymphopenia) did not significantly affect the management or outcomes of these infants in our cohort. In the general, non-immunodeficient population, TREC rises along with gestational age and birth weight, and is significantly higher in females and the firstborn of twin pairs. Low TREC correlates with both gestational age and birth weight in extremely premature newborns. Additionally, the rate of TREC increase per week consistently accelerates with gestational age. Together, these findings mandate a lower cutoff or a more lenient screening algorithm for extremely premature infants, in order to reduce the high rate of FPs within this group. A significant surge in TREC values was observed between 28 and 30?weeks of gestation, where median TREC copy numbers rise by 50% over 2?weeks. These findings suggest a maturational step in T cell development around week 29 gestation, and imply moderate to late preterms should be screened with the same cutoff as term infants. The SCID NBS program is still in its infancy, but is already bearing fruit in the early detection and improved outcomes of children with SCID in Israel and other countries.

Dataset Information

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Publications

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

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