Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-06-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/6/3/52 |
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| author | Vijaya Knight Jennifer R. Heimall Nicola Wright Cullen M. Dutmer Thomas G. Boyce Troy R. Torgerson Roshini S. Abraham |
| author_facet | Vijaya Knight Jennifer R. Heimall Nicola Wright Cullen M. Dutmer Thomas G. Boyce Troy R. Torgerson Roshini S. Abraham |
| author_sort | Vijaya Knight |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T18:48:57Z |
| format | Article |
| id | doaj.art-f84b4f23899a4c8ebe03d5d1956a3b85 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T18:48:57Z |
| publishDate | 2020-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-f84b4f23899a4c8ebe03d5d1956a3b852023-11-20T05:22:08ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-06-01635210.3390/ijns6030052Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current PracticesVijaya Knight0Jennifer R. Heimall1Nicola Wright2Cullen M. Dutmer3Thomas G. Boyce4Troy R. Torgerson5Roshini S. Abraham6Division of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Children’s Hospital Colorado, Aurora, CO 80045, USADivision of Allergy and Immunology, Children’s Hospital of Philadelphia, Perlman School of Medicine at University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Pediatrics, Alberta Children’s Hospital, University of Calgary, Calgary, AB T3B 6A8, CanadaDivision of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Children’s Hospital Colorado, Aurora, CO 80045, USADivision of Pediatric Infectious Diseases, Marshfield Clinic, WI 54449, USAExperimental Immunology, Allen Institute, Seattle, WA 98109, USADepartment of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USASevere 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.https://www.mdpi.com/2409-515X/6/3/52severe combined immunodeficienciesTRECnewborn screeninglymphocyte quantitationflow cytometrynaïve and memory T cells |
| spellingShingle | Vijaya Knight Jennifer R. Heimall Nicola Wright Cullen M. Dutmer Thomas G. Boyce Troy R. Torgerson Roshini S. Abraham Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices International Journal of Neonatal Screening severe combined immunodeficiencies TREC newborn screening lymphocyte quantitation flow cytometry naïve and memory T cells |
| title | Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices |
| title_full | Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices |
| title_fullStr | Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices |
| title_full_unstemmed | Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices |
| title_short | Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices |
| title_sort | follow up for an abnormal newborn screen for severe combined immunodeficiencies nbs scid a clinical immunology society cis survey of current practices |
| topic | severe combined immunodeficiencies TREC newborn screening lymphocyte quantitation flow cytometry naïve and memory T cells |
| url | https://www.mdpi.com/2409-515X/6/3/52 |
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