Special Issue "Newborn Screening Follow-Up and Education"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (1 June 2021).

Special Issue Editors

Dr. Amy Gaviglio
E-Mail Website
Guest Editor
G2S Corporation, Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Washington, DC, USA
Consultant for the Association of Public Health Laboratories, ‎Silver Spring, MD 20910, USA
Interests: newborn screening services; rare disease; genetic counseling; ethics; informatics
Special Issues and Collections in MDPI journals
Dr. Dianne Webster
E-Mail
Guest Editor
National Newborn Metabolic Screening programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand; Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

While the success of newborn screening in helping each baby reach their best potential outcome  is highly dependent on reliable testing, the activities on the screening pathway that take place before and after testing and outside the laboratory are also every bit as important to achieving this goal. These activities are often referred to as educational and follow-up activities and encompass a wide range of coordinated actions that help ensure all babies receive newborn screening as well as subsequent testing, clinical evaluation, management, and treatment as needed.

In this Special Issue, we present articles that share the outcome of initiatives in education and short and long term followup. Short term followup includes actions throughout the newborn screening process taken to ensure that a valid screen or decline/refusal is obtained, newborns whose test results are actionable receive appropriate and timely communication, additional tests, evaluation, and diagnosis, and newborns confirmed with a disease receive appropriate care. Long term followup is the activities which occur after confirmation that a condition is present and assure that screening programme goals are met (eg babies with congenital hypothyroidism meet their growth and development potential). Articles will report cross-cutting educational and followup initiatives and successes aimed at achieving programme goals across the public health and medical systems.

Ms. Amy Gaviglio
Dr. Dianne Webster
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (5 papers)

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Research

Article
Establishing a National Community of Practice for Newborn Screening Follow-Up
Int. J. Neonatal Screen. 2021, 7(3), 49; https://doi.org/10.3390/ijns7030049 - 26 Jul 2021
Viewed by 636
Abstract
Newborn screening (NBS) follow-up programs in the United States are managed at the state level, leaving limited opportunities for collaboration across programs and coordinated resource sharing. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a program of the Association of Public Health [...] Read more.
Newborn screening (NBS) follow-up programs in the United States are managed at the state level, leaving limited opportunities for collaboration across programs and coordinated resource sharing. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a program of the Association of Public Health Laboratories (APHL), has established a national community of practice for NBS follow-up by creating a network of follow-up staff and stakeholders through education and engagement opportunities. The activities of NewSTEPs in support of NBS follow-up have strengthened information dissemination, collaboration, data collection and technical assistance-driven mentorship across the national system. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
Article
The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey
Int. J. Neonatal Screen. 2021, 7(3), 41; https://doi.org/10.3390/ijns7030041 - 08 Jul 2021
Viewed by 589
Abstract
Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, [...] Read more.
Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, an uncommon practice, and few recalled knowing results would be provided to them or their pediatrician in the first few weeks of life. Thorough explanations regarding NBS procedures and expectations were embedded within the survey to enhance and improve interpretation of survey questions. Future NBS experience surveys should utilize cognitive pretesting to capture divergent experiences and improve response validity. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
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Article
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts
Int. J. Neonatal Screen. 2021, 7(3), 37; https://doi.org/10.3390/ijns7030037 - 30 Jun 2021
Viewed by 907
Abstract
The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn [...] Read more.
The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2200 with a range from 69 to 7944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of discoveries into clinical practice. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
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Article
Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)
Int. J. Neonatal Screen. 2021, 7(1), 10; https://doi.org/10.3390/ijns7010010 - 12 Feb 2021
Cited by 1 | Viewed by 799
Abstract
Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess [...] Read more.
Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased thyroid-stimulating hormone (TSH) at screening and/or confirmation. The cohort was divided into before (A) and after (B) guideline publication in 02/2011, to assess the guideline’s influence on medical care. A total of 659 patients were analyzed as group A (n = 327) and group B (n = 332) representing 17.5% and 10.3% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxine doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented. In the first three years of life, less than half of the patients underwent audiometry; developmental assessment was performed in 49.3% (A) and 24.8% (B) (p < 0.01). Documentation of CH patient care by pediatric endocrinologists seemed to be established, however, it reflected only a minority of the affected patients. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend, and optimize care and outcome in patients with rare diseases such as CH. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
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Article
Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion
Int. J. Neonatal Screen. 2021, 7(1), 1; https://doi.org/10.3390/ijns7010001 - 25 Dec 2020
Viewed by 882
Abstract
Newborn screening (NBS) for Cystic Fibrosis (CF) has revolutionized the diagnosis of this inherited disease. CF NBS goals are to identify, diagnose, and initiate early CF treatment to attain better health outcomes. Abnormal CF NBS infants require diagnostic analysis via sweat chloride testing [...] Read more.
Newborn screening (NBS) for Cystic Fibrosis (CF) has revolutionized the diagnosis of this inherited disease. CF NBS goals are to identify, diagnose, and initiate early CF treatment to attain better health outcomes. Abnormal CF NBS infants require diagnostic analysis via sweat chloride testing (ST). During ST, insufficient sweat volume collection causes a “quantity not sufficient” (QNS) test result and may delay CF diagnosis. The CF Foundation recommends QNS rates <10% for infants <3 months, but many CF Centers experience difficulties meeting this standard. Our quality improvement (QI) study assessed infant and laboratory factors contributing to ST success and QNS rates from 2017–2019. Infants’ day of life (DOL) at successful ST completion was analyzed according to infant factors (birth weight (BW), gestational age, ethnicity, and sex). Laboratory factors and procedures affecting ST outcomes were also reviewed. At our institution, BW and gestational age were the infant factors found to significantly affect DOL at ST completion. ST education, reduced number of laboratory technicians, and direct observation during ST completion also improved ST success rates. This study supports QI measures and partnerships between CF centers and laboratory staff to identify and improve ST QNS rates while sustaining practices to ensure timely CF diagnostic testing. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
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