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Newborn Screening Follow-Up and Education
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Newborn Screening Follow-Up and Education

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

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 22177

Special Issue Editors

Dr. Amy Gaviglio

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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, Collections and Topics in MDPI journals
Dr. Dianne Webster

E-Mail
Guest Editor
1. National Newborn Metabolic Screening Programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand
2. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues, Collections and Topics 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 submissions that pass pre-check are 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 1600 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.

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (7 papers)

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Research

8 pages, 704 KiB  
Article
Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
by Kristen Thompson, Shelby Atkinson and Mary Kleyn
Int. J. Neonatal Screen. 2022, 8(2), 34; https://doi.org/10.3390/ijns8020034 - 11 May 2022
Cited by 2 | Viewed by 2363
Abstract
Educating parents about the newborn screening (NBS) process is critical in ensuring that families are aware of their child’s NBS, which could contribute to better outcomes for the baby and experiences for the family. Successful education efforts result in expecting parents understanding the [...] Read more.
Educating parents about the newborn screening (NBS) process is critical in ensuring that families are aware of their child’s NBS, which could contribute to better outcomes for the baby and experiences for the family. Successful education efforts result in expecting parents understanding the importance of NBS, feeling comfortable with the NBS process, and being aware of their choices after NBS is complete. Educating parents prenatally is challenging for many NBS programs for a variety of reasons. The COVID-19 pandemic added additional barriers to NBS programs’ ability to educate parents prenatally about NBS. By initiating a department-wide partnership among other programs with a similar target audience, Michigan’s NBS Program was able to host a virtual baby fair. Since the inaugural event, Michigan’s NBS Program has hosted seven virtual fairs with 15 participating programs. A total of 692 participants registered for the baby fair and received a resource packet, over 157 participants joined one of the live presentations, and 211 have viewed the YouTube videos of recorded fairs. Virtual baby fairs are a cost-effective and convenient approach to education that could be implemented in any NBS program to educate parents prenatally about NBS. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
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6 pages, 195 KiB  
Article
Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results
by Natasha Heather, Lisa Morgan, Detlef Knoll, Keith Shore, Mark de Hora and Dianne Webster
Int. J. Neonatal Screen. 2022, 8(2), 30; https://doi.org/10.3390/ijns8020030 - 3 May 2022
Cited by 3 | Viewed by 2163
Abstract
A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive. This protocol aimed to improve the timeliness and completeness of receipt [...] Read more.
A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive. This protocol aimed to improve the timeliness and completeness of receipt of repeat NBS samples. Under the structured protocol, all repeat sample requests were phoned or texted to the lead maternity carer (LMC), in addition to the standard written report issued. Weekly text reminders were sent until 4 weeks or the sample was received. National data were monitored following implementation of the protocol. The proportion of repeat samples received within 10 days of request improved after the introduction of the protocol, from 35.0% in 2013 to 81.4% in 2020 (p < 0.001). The proportion of requests lost to follow-up decreased, from 4.1% in 2013 to 1.3% in 2020 (p < 0.001). A structured NBS follow-up protocol that included SMS text messaging led to an earlier and more complete receipt of repeat samples. This is likely due to practitioners receiving the request more quickly, as well as the laboratory adopting a consistent approach to repeated reminders. SMS text messages are a useful adjunctive method for screening programmes to communicate with health care providers. Full article
(This article belongs to the Special Issue Newborn Screening Follow-Up and Education)
10 pages, 219 KiB  
Article
Establishing a National Community of Practice for Newborn Screening Follow-Up
by Erin Darby, John Thompson, Carol Johnson, Sikha Singh and Jelili Ojodu
Int. J. Neonatal Screen. 2021, 7(3), 49; https://doi.org/10.3390/ijns7030049 - 26 Jul 2021
Cited by 6 | Viewed by 2789
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)
12 pages, 1554 KiB  
Article
The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey
by Norma-Jean Simon, Anne Atkins, Brianne Miller, Natasha Bonhomme and Beth Tarini
Int. J. Neonatal Screen. 2021, 7(3), 41; https://doi.org/10.3390/ijns7030041 - 8 Jul 2021
Cited by 4 | Viewed by 2629
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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10 pages, 1415 KiB  
Article
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts
by Amy Brower, Kee Chan, Michael Hartnett and Jennifer Taylor
Int. J. Neonatal Screen. 2021, 7(3), 37; https://doi.org/10.3390/ijns7030037 - 30 Jun 2021
Cited by 16 | Viewed by 4202
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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11 pages, 457 KiB  
Article
Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)
by Julia Thomann, Sascha R. Tittel, Egbert Voss, Rudolf Oeverink, Katja Palm, Susanne Fricke-Otto, Klaus Kapelari, Reinhard W. Holl, Joachim Woelfle and Markus Bettendorf
Int. J. Neonatal Screen. 2021, 7(1), 10; https://doi.org/10.3390/ijns7010010 - 12 Feb 2021
Cited by 3 | Viewed by 2757
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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9 pages, 1476 KiB  
Article
Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion
by Ambika Shenoy, Dina Spyropoulos, Kathleen Peeke, Dawn Smith, Michael Cellucci and Aaron Chidekel
Int. J. Neonatal Screen. 2021, 7(1), 1; https://doi.org/10.3390/ijns7010001 - 25 Dec 2020
Cited by 9 | Viewed by 3243
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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