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Open AccessArticle

Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices

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Division of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Children’s Hospital Colorado, Aurora, CO 80045, USA
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Division of Allergy and Immunology, Children’s Hospital of Philadelphia, Perlman School of Medicine at University of Pennsylvania, Philadelphia, PA 19104, USA
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Department of Pediatrics, Alberta Children’s Hospital, University of Calgary, Calgary, AB T3B 6A8, Canada
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Division of Pediatric Infectious Diseases, Marshfield Clinic, WI 54449, USA
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Experimental Immunology, Allen Institute, Seattle, WA 98109, USA
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Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(3), 52; https://doi.org/10.3390/ijns6030052
Received: 22 May 2020 / Revised: 15 June 2020 / Accepted: 26 June 2020 / Published: 30 June 2020
Severe combined immunodeficiency (SCID) includes a group of monogenic disorders presenting with severe T cell lymphopenia (TCL) and high mortality, if untreated. The newborn screen (NBS) for SCID, included in the recommended universal screening panel (RUSP), has been widely adopted across the US and in many other countries. However, there is a lack of consensus regarding follow-up testing to confirm an abnormal result. The Clinical Immunology Society (CIS) membership was surveyed for confirmatory testing practices for an abnormal NBS SCID result, which included consideration of gestational age and birth weight, as well as flow cytometry panels. Considerable variability was observed in follow-up practices for an abnormal NBS SCID with 49% confirming by flow cytometry, 39% repeating TREC analysis, and the remainder either taking prematurity into consideration for subsequent testing or proceeding directly to genetic analysis. More than 50% of respondents did not take prematurity into consideration when determining follow-up. Confirmation of abnormal NBS SCID in premature infants continues to be challenging and is handled variably across centers, with some choosing to repeat NBS SCID testing until normal or until the infant reaches an adjusted gestational age of 37 weeks. A substantial proportion of respondents included naïve and memory T cell analysis with T, B, and NK lymphocyte subset quantitation in the initial confirmatory panel. These results have the potential to influence the diagnosis and management of an infant with TCL as illustrated by the clinical cases presented herein. Our data indicate that there is clearly a strong need for harmonization of follow-up testing for an abnormal NBS SCID result. View Full-Text
Keywords: severe combined immunodeficiencies; TREC; newborn screening; lymphocyte quantitation; flow cytometry; naïve and memory T cells severe combined immunodeficiencies; TREC; newborn screening; lymphocyte quantitation; flow cytometry; naïve and memory T cells
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Knight, V.; Heimall, J.R.; Wright, N.; Dutmer, C.M.; Boyce, T.G.; Torgerson, T.R.; Abraham, R.S. Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices. Int. J. Neonatal Screen. 2020, 6, 52.

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