Establishing a National Community of Practice for Newborn Screening Follow-Up

Darby, Erin; Thompson, John D.; Johnson, Carol; Singh, Sikha; Ojodu, Jelili

doi:10.3390/ijns7030049

Cited by 5 publications

(4 citation statements)

References 4 publications

(6 reference statements)

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“…NBS programs within the United States utilize a coordinated system of notification and reporting to help ensure that actionable screening results receive appropriate follow-up and outcome determination [ 7 ]. Despite overall advances in electronic data exchange, much of the NBS diagnostic confirmation is still accomplished through largely manual processes, often resulting in the delayed ability of NBS programs to obtain diagnostic outcomes, and/or collect enough diagnostic data to facilitate the use of public health-defined case definitions and common diagnostic classifications.…”

Section: Introductionmentioning

confidence: 99%

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020

Gaviglio

McKasson

Singh

et al. 2023

IJNS

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Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015–2017 (17.50–18.31 per 10,000) to 2018–2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018–2020, including data from fifty US states and two territories.

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Section: Introductionmentioning

confidence: 99%

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020

Gaviglio

McKasson

Singh

et al. 2023

IJNS

Self Cite

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“…As outlined in the CLSI guideline Newborn Screening Follow-up [33], to maximise the potential health benefits of NBS, the key tasks for NBS programmes include ensuring that all newborns who require further testing are checked promptly. All actions required to achieve this are termed "(Short-Term) Follow-up" in the CLSI guideline [33] and in several US publications [148][149][150] or "tracking" in other publications [36,149,151,152]. Without systematic tracking, there is a risk that some of the required confirmatory testing will not be completed ("loss to follow-up"), and the affected children will not be treated in time [4,21,33,148,[153][154][155].…”

Section: Follow-up (Tracking) Of Positive Results and Requested Repea...mentioning

confidence: 99%

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

Odenwald¹,

Brockow²,

Hanauer³

et al. 2023

IJNS

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Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment through NBS. However, as with any other screening, NBS can also cause harm, and the principle that “the overall benefits of screening should outweigh the harms” must be considered when introducing and implementing NBS programmes. This publication compiles the results of a systematic literature research on requirements for NBS infrastructure and procedures which was conducted as part of a research project on the quality and shortcomings of the NBS pathway in Germany. The compilation contains the requirements and recommendations for realising the principle of “maximise benefits and minimise harms” in relevant NBS pathway components such as parental education and information, coverage, timeliness, laboratory quality assurance, follow-up of abnormal results, confirmatory diagnostics, documentation, and evaluation. The results reflect the complexity of NBS infrastructure, and thus, they illustrate the importance of considering and implementing NBS as a well-coordinated public health programme with continuous quality management. Special attention should be paid to the perspectives of parents and families. Some NBS issues can substantially benefit from digital instruments or international cooperation. The literature review presented here has contributed to a concept of proposals for the advancement of NBS in Germany, and despite different settings, it may as well be of interest for other countries to achieve the best possible course and outcome of NBS for each child.

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“…As Hoff et al (2006) state, identifying that an infant has a genetic or metabolic condition is not valuable if that infant is unable to receive timely, appropriate care [8]. The role of follow-up, both short-term and long-term, in NBS is to ensure that newborns identified receive the necessary treatment [9]. NBS follow-up is becoming more difficult and more important as new conditions are added to the RUSP.…”

Section: Introductionmentioning

confidence: 99%

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Kellar-Guenther,

Barringer,

Raboin

et al. 2024

Preprint

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Newborn screening (NBS) is hailed as a public health success, but little is known about what happens to these children after diagnosis. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort by state NBS programs from clinicians. Six programs have been working towards a core minimal LTFU dataset, starting with data elements proposed by the Advisory Committee on Heritable Disorders in Newborns and Children’s Follow-up and Treatment workgroup (ACHDNC FUTR). This minimal data set could begin to address the impact of early diagnosis by NBS. After three rounds of data collection and revision to a data collection tool that defines the minimal LTFU data elements, the group agreed that it was most important for the dataset to capture two items for the denominator--diagnosis and if the child moved or died—with three outcomes: if the child was still alive, if the child had contact with a specialist, and if they received appropriate care specific to their diagnosis within the year. All six programs were able to provide these data. In 2022, about 83.8% (563/672) of the children in these LTFU programs were alive, 92.0% saw a specialist, and 87.7% received appropriate care.

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Establishing a National Community of Practice for Newborn Screening Follow-Up

Cited by 5 publications

References 4 publications

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

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