Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population.

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face the challenge of false positive results, with a disproportionately high number in the premature newborn population. This study evaluates TREC values and SCID screening outcomes in premature newborns and elucidates evidence-based SCID screening practices that reduce unnecessary follow-up activities in this population. De-identified individual SCID newborn screening data and aggregate SCID screening data were obtained from seven states across the US for babies born between 2018 and 2020. Relevant statistics were performed on data pooled from these states to quantify screening performance metrics and clinical impact on various birth and gestational age categories of newborns. The data were normalized using multiples-of-the-median (MoM) values to allow for the aggregation of data across states. The aggregation of NBS data across a range of NBS programs highlighted the trajectory of TREC values over time, both between and within newborns, and provides evidence for improved SCID screening recommendations in the premature and low birth weight population.

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.

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.

Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.

BACKGROUND: Newborn screening (NBS) aims to achieve early identification and treatment of affected infants prior to onset of symptoms. The timely completion of each step (i.e., specimen collection, transport, testing, result reporting), is critical for early diagnosis. Goals developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) for NBS timeliness were adopted (time-critical results reported by five days of life, and non-time-critical results reported by day seven), and implemented into a multi-year quality improvement initiative (NewSTEPS 360) aimed to decrease the time to result reporting and intervention. METHODS: The NBS system from specimen collection through reporting of results was assessed (bloodspot specimen collection, specimen shipping, sample testing, and result reporting). Annual data from 25 participating NBS programs were analyzed; the medians (and interquartile range, IQR) of state-specific percent of specimens that met the goal are presented. RESULTS: The percent of specimens collected before 48 hours of life increased from 95% (88-97%) in 2016 to 97% (IQR 92-98%) in 2018 for the 25 states, with 20 (80%) of programs collecting more than 90% of the specimens within 48 hours of birth. Approximately 41% (IQR 29-57%) of specimens were transported within one day of collection. Time-critical result reporting in the first five days of life improved from 49% (IQR 26-74%) in 2016 to 64% (42%-71%) in 2018, and for non-time critical results from 64% (IQR 58%-78%) in 2016 to 81% (IQR 68-91%) in 2018. Laboratories open seven days a week in 2018 reported 95% of time-critical results within five days, compared to those open six days (62%), and five days (45%). CONCLUSION: NBS programs that participated in NewSTEPs 360 made great strides in improving timeliness; however, ongoing quality improvement efforts are needed in order to ensure all infants receive a timely diagnosis.

Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs.

The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) conducts non-regulatory site reviews of state newborn screening programs in the US with the goal of providing comprehensive reports and recommendations to support quality improvements within the system. A detailed coding and qualitative analysis of data extracted from reports of seven programs visited between 2012 and 2017, of thirteen pre-site visit surveys completed by state newborn screening programs, and of information from interviews conducted with three site review experts revealed four common themes that exist across states within the national newborn screening system. These themes include opportunities to implement improvements in: (1) communications inside and outside of the state newborn screening program, (2) education, (3) information technology, and (4) operations. The cross-cutting recommendations provided by NewSTEPs within the comprehensive site review reports may prove valuable for all state programs to consider and to incorporate as quality improvement measures in the absence of a full site review. The analysis of the site review process and recommendations identified important opportunities for improvement, many of which were previously unknown to be common across programs, and also provided affirmation of known challenges.