Welcome to the ESID 2022 Meeting Interactive Programme
The meeting will officially run on Central European Summer Time (CEST)
Introduction
SCID Newborn Screening in Germany – Update & Experiences
Standardization and Novel Methods in SCID Screening
Second-tier DNA Analyses in SCID NBS
Experiences from Newborn Screening in Catalonia
NEWBORN SCREENING IN SWITZERLAND: TRECS AND KRECS
Abstract
Background and Aims
Since January 1, 2019 levels of T cell receptor and kappa-deleting recombination excision circles (TREC, KREC) are measured as a part of the Swiss newborn screening program. We present findings of these first three years and compare outcomes of SCID patients to a historical cohort.
Methods
In all newborns with abnormal first screening, data on their medical history, laboratory findings and management were recorded in a centralised database.
Results
In total, 340 patients had abnormal findings on screening (0.13% of all tested newborns).
Eleven patients (3%) had severe immunodeficiency: eight had severe combined immunodeficiency (SCID, 2.7/year) and three had agammaglobulinemia. Furthermore, 36 patients (11%) had less severe immunodeficiencies. Seven SCID patients (88%) underwent hematopoietic stem cell transplantation at a median age of 4.5 months. One patient (12%) died of a viral infection after transplantation. Compared to a historical cohort of 15 SCID patients diagnosed over a period of 12 years (1.3/year), age at diagnosis and transplantation, mortality (33% vs 12%) and morbidity were lower in SCID patients identified by newborn screening.
In 251 patients (74%), abnormal screening results were transient and likely due to a variety of factors including prematurity, maternal immunosuppression, asphyxia, and trisomy 21.
Conclusions
The first three years of the Swiss newborn screening program have helped to identify a substantial number of children with severe immunodeficiencies. The number of patients diagnosed per year exceeds that of the previous 12 years by more than two times, suggesting that some children died before the introduction of screening without being diagnosed.
LESSONS LEARNED FROM FIVE YEARS OF NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) IN ISRAEL
Abstract
Background and Aims
Background: Implementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced diagnosis and management of affected infants and undoubtedly improved their outcomes. Reporting long-term follow-up of such programs is of great importance.
Objective: Here we report a five-year summary of the NBS program for SCID in Israel.
Methods
Methods: Immunological and genetic assessments, clinical analyses and outcome data from all infants screened positive were evaluated and summarized.
Results
Results: A total of 937,953 Guthrie cards were screened for SCID. A second Guthrie card was requested on 1169 occasions (0.12%) that resulted in 142 referrals (0.015%) for further validation tests. Flow cytometry immune-phenotyping, TREC measurement in peripheral blood, and expression of TCRVb repertoire for validation of positive cases revealed specificity and sensitivity of 93.7% and 75.9%, respectively, in detecting true cases of SCID. Altogether, 32 SCID and 110 non-SCID newborns were diagnosed, making the incidence of SCID in Israel as high as 1: 29,000 births. The most common genetic defects in this group were associated with mutations in DCLRE1C and IL7R genes. No infant with SCID was missed during the study time. Twenty-two SCID patients underwent hematopoietic stem cell transplantation (HSCT) that resulted in a 91% survival rate.
Conclusions
Conclusions: NBS for SCID should be ultimately applied globally, specifically to areas with high rates of consanguineous marriages. Accumulating data from follow-up studies on NBS for SCID will enable improving diagnosis and treatment and will enrich our understanding of immune development in health and disease.