Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Feuchtbaum, Lisa; Yang, Juan; Currier, Robert

doi:10.1038/gim.2017.199

Cited by 13 publications

(11 citation statements)

References 31 publications

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“…Reported TREC and b-actin copy numbers differed between these methods, requiring adjustment of thresholds. The categories of test results are summarized in Table 1 19 Children with SCID or TCL detected by NBS were managed until resolution or for at least 1 year and up to 7.5 years. Diagnoses were established by standard clinical testing, including gene sequencing, except as noted below.…”

Section: Methodsmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

et al. 2019

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OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Abnormal TREC results were followed-up with liquid blood testing for T-cell abnormalities. We report the performance of the SCID screening program and the outcomes of infants who were identified.METHODS: Data that were reviewed and analyzed included demographics, nursery summaries, TREC and lymphocyte flow-cytometry values, and available follow-up, including clinical and genetic diagnoses, treatments, and outcomes.RESULTS: Infants with clinically significant T-cell lymphopenia (TCL) were successfully identified at a rate of 1 in 15 300 births. Of these, 50 cases of SCID, or 1 in 65 000 births (95% confidence interval 1 in 51 000-1 in 90 000) were found. Prompt treatment led to 94% survival. Infants with non-SCID TCL were also identified, diagnosed and managed, including 4 with complete DiGeorge syndrome who received thymus transplants. Although no cases of typical SCID are known to have been missed, 2 infants with delayed-onset leaky SCID had normal neonatal TREC screens but came to clinical attention at 7 and 23 months of age.CONCLUSIONS: Population-based TREC testing, although unable to detect immune defects in which T cells are present at birth, is effective for identifying SCID and clinically important TCL with high sensitivity and specificity. The experience in California supports the rapid, widespread adoption of SCID newborn screening.

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Section: Methodsmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

et al. 2019

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“…Individual autonomy, confidentiality and voluntary consent can thus be viewed as inherently in conflict with the needs of the government and immunologists to diagnose and manage rare PIDs being screened for. Ongoing quality monitoring and new test development by screening programs require use of residual dried blood spot (DBS) samples that are archived stored . Addition of new diseases to NBS panels can be expected to reveal both anticipated information on disease incidence, spectrum and characteristics and unanticipated findings that challenge medical experts and engage basic scientists.…”

Section: Screening For Scid As a Public Health Measurementioning

confidence: 99%

“…Ongoing quality monitoring and new test development by screening programs require use of residual dried blood spot (DBS) samples that are archived stored. 19,20 Addition of new diseases to NBS panels can be expected to reveal both anticipated information on disease incidence, spectrum and characteristics and unanticipated findings that challenge medical experts and engage basic scientists. Moreover, storage of residual DBS material collected for NBS opens the possibility of conducting much more far-reaching research, while with modern DNA sequencing technology one can sequence a person's entire genome using a small punch from a stored DBS.…”

Section: Screening For Scid a S A Pub Lic He Alth Me A Surementioning

confidence: 99%

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

Puck

2018

Immunological Reviews

134

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Summary The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening test in a SCID screening program, an infant can receive further diagnostic testing for SCID in the neonatal period, prior to onset of infectious complications, to pemit immediate institution of protective measures and definitive, life-saving treatment to establish a functional immune system. SCID screening is now the accepted standard of care in state public health departments across the USA, and it is being adopted in many countries. It has proven effective, with infants having this otherwise inapparent but serious, rare disorder achieving survival and immune reconstitution. In addition to bringing to attention infants with the primary screening target diseases, typical SCID and leaky SCID (due to hypomorphic mutations in known SCID genes), the newborn screening assay for insufficient TRECs in dried blood spots also reveals infants with non-SCID T lymphopenic conditions. Experience has accumulated regarding the range and limitations of diagnoses of newborns with low TRECs and low T cells. Previously unknown immune defects have been discovered, as well as conditions not formerly recognized to have low T cells in the neonatal period.

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“…To reduce this diagnostic delay, universal newborn screening for LD has been implemented in some health systems . These newborn screening programs, which rely on high‐throughput enzymatic assays on dried blood spots (DBS), are limited to just a handful of LD with available treatment for which early detection provides demonstrable benefits.…”

Section: Introductionmentioning

confidence: 99%

“…To reduce this diagnostic delay, universal newborn screening for LD has been implemented in some health systems. [4][5][6] These newborn screening programs, which rely on high-throughput enzymatic assays on dried blood spots (DBS), are limited to just a handful of LD with available treatment for which early detection provides demonstrable benefits. For all other LD, the diagnostic strategy is traditionally based, upon clinical suspicion, on assaying enzymatic activities on cultured cells (the gold standard) 7 or DBS, followed by molecular genetic testing of positive cases to identify the underlying mutations.…”

Section: Introductionmentioning

confidence: 99%

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

et al. 2019

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Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually unspecific and shared by hundreds of other disorders. Diagnosis of LD traditionally relies on performing specific enzymatic assays, if available, upon clinical suspicion of the disorder. However, the combination of the insidious onset of LD and the lack of awareness on these rare diseases among medical personnel results in undesirable diagnostic delays, with unchecked disease progression, appearance of complications and a worsened prognosis. We tested the usefulness of a next‐generation sequencing‐based gene panel for quick, early detection of LD among cases of idiopathic splenomegaly and/or thrombocytopenia, two of the earliest clinical signs observed in most LD. Our 73‐gene panel interrogated 28 genes for LD, 1 biomarker and 44 genes underlying non‐LD differential diagnoses. Among 38 unrelated patients, we elucidated eight cases (21%), five with LD (GM1 gangliosidosis, Sanfilippo disease A and B, Niemann‐Pick disease B, Gaucher disease) and three with non‐LD conditions. Interestingly, we identified three LD patients harboring pathogenic mutations in two LD genes each, which may result in unusual disease presentations and impact treatment. Turnaround time for panel screening and genetic validation was 1 month. Our results underline the usefulness of resequencing gene panels for quick and cost‐effective screening of LDs and disorders sharing with them early clinical signs.

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Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Abstract: Staying in active care may associate with disorder type but not maternal characteristics.

Cited by 13 publications

References 31 publications

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

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