Dataset Information

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.

ABSTRACT: Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal screening for SCID. The Association of Public Health Laboratories (APHL), along with the Immune Deficiency Foundation (IDF), surveyed public health NBS system laboratory and follow-up coordinators regarding their NBS program's screening methodologies and targets, protocols for stakeholder notifications, and long-term follow-up practices. This report explores the variation that exists across NBS practices, revealing needs for efficiencies and educational resources across the NBS system to ensure the best outcomes for newborns.

SUBMITTER: Sheller R

PROVIDER: S-EPMC7655545 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.

Sheller Ruthanne R Ojodu Jelili J Griffin Emma E Edelman Sari S Yusuf Careema C Pigg Trey T Huston Alissa A Fitzek Brian B Boyle John G JG Singh Sikha S

Frontiers in immunology 20201028

Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal screening for SCID. The Association of Public Health Laboratories (APHL), along with the Immune Deficiency Foundation (IDF), surveyed public health NBS system laboratory and follow-up coordinators regarding their NBS program's screening methodologi ...[more]

PMID: 33193375

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Project description: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.

Project description:IntroductionHearing loss is the most common congenital condition screened for at birth in the United States, and more than 95% of newborns are currently screened for hearing. Newborn hearing screening is most effective when infants receive timely and effective interventions. Unfortunately, follow-up rates for newborns not passing their initial hearing screenings are as low as 50% in some states. Midwives are well-positioned to encourage families to follow-up with their neonatal providers when newborns are referred for further testing. Newborn hearing screening is a relatively new practice in the United States and, to date, there has been no research regarding the informational needs and practices of certified nurse-midwives or certified midwives related to hearing screening. This study examined the knowledge, attitudes, and follow-up practices of midwives related to newborn hearing screening and intervention.MethodsA survey instrument was developed and sent to 5255 American College of Nurse-Midwives members in 50 states and 2 territories.ResultsFive hundred and eighteen surveys were returned, yielding a response rate of 9.9%. Only 68% of respondents said it was very important to screen all newborns for hearing loss. Respondents reported significant gaps in their knowledge about screening procedures, steps for referral, and the availability of resources when newborns did not pass the test. Midwives also reported the need for information about hearing loss conditions and genetics, screening guidelines, protocols for follow-up, referral networks, and therapies available.DiscussionCurrent practices in newborn hearing screening and intervention programs can be enhanced by strengthening the basic midwifery knowledge of and rationale for follow-up when newborns fail their hearing screenings. Midwives can play an integral role in optimizing hearing, speech, and family interaction by assuring that each newborn has access to the best hearing screening and referrals.

Dataset Information

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.

Publications

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.

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