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Special Issue Editors

Dr. Valentina Rovelli

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Guest Editor

Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy
Interests: inborn errors of metabolism; newborn screening; clinical genetics; biochemistry

Dr. Francesca Menni

E-Mail Website
Guest Editor

Clinical Department of Pediatrics, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università di Milano, Milan, Italy
Interests: inborn errors of metabolism; newborn screening; clinical genetics; biochemistry

Dr. Francesca Furlan

E-Mail Website
Guest Editor

Dr. Serena Gasperini

E-Mail Website
Guest Editor

Centro "Fondazione Mariani" per le Malattie Metaboliche, U.O.S. Malattie Metaboliche Rare—Clinica Pediatrica, Fondazione IRCCS San Gerardo, Monza, Italy
Interests: inborn errors of metabolism; newborn screening; clinical genetics; biochemistry

Special Issue Information

Dear Colleagues,

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Initially, the NBS program was developed for diseases related to inborn errors of metabolism, but it has gradually been expanded to include other diseases, such as endocrine diseases. With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems. Newborn screening allows doctors to diagnose babies and start their treatment at the earliest.

As the Guest Editors of this Special Issue, ‘Neonatal Screening: Recent and Future Developments’, we cordially invite you to submit reviews, research articles, or case reports, which will undoubtedly broaden the understanding of neonatal screening and highlight new avenues for diagnosis and treatment.

Dr. Valentina Rovelli
Dr. Francesca Menni
Dr. Francesca Furlan
Dr. Serena Gasperin
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. Children is an international peer-reviewed open access monthly 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 2400 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.

Keywords

newborn screening
expanded newborn screening
genomics
quality improvement
genetic screening
implementation
biomarkers
metabolic profile

Published Papers (2 papers)

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Research

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15 pages, 588 KiB

Open AccessArticle

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

by Banu Kadıoğlu Yılmaz and Zafer Bağcı

Children 2024, 11(5), 571; https://0-doi-org.brum.beds.ac.uk/10.3390/children11050571 (registering DOI) - 9 May 2024

Abstract

This study aims to evaluate the process of neonatal phenylketonuria (PKU) screening from birth to admission to the pediatric metabolism polyclinic, determining delays in the screening program and the factors influencing them. This study was conducted during 2021–2023. Blood collection dates, results, and probable parameters causing delays in the screening program were recorded. This study included 118 infants. Admission time to the polyclinic was (mean ± SD) 25.2 ± 12.6 days (min–max: 3.4–78.9 days). Admission time was significantly high for refugees, those whose parents were consanguineous, and those who had more heel-prick blood samples taken (p < 0.001, p = 0.005, and p < 0.001, respectively). The first heel-prick blood phenylalanine (phe) level was significantly negatively correlated with the admission time (p < 0.001). Patients’ admission time whose first blood phe level < 240 μmol/L was statistically significantly higher than in those with ≥240 μmol/L (p < 0.001). We determined that there were delays in PKU screening from birth to admission to the polyclinic. Being a refugee, the presence of consanguineous marriages, the increase in the number of heel-prick tests, and blood phe levels at a range of 120–240 μmol/L were the factors that played a role in this delay. Taking steps to reduce the impact of these parameters can prevent delays in newborn PKU screening and increase the success of the screening program. Full article

(This article belongs to the Special Issue Neonatal Screening: Recent and Future Developments)

Review

Jump to: Research

16 pages, 407 KiB

Open AccessReview

Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review

by Jane Chudleigh and Pru Holder

Children 2024, 11(5), 507; https://0-doi-org.brum.beds.ac.uk/10.3390/children11050507 - 24 Apr 2024

Viewed by 419

Abstract

Psychosocial consequences of false-positive results following newborn bloodspot screening have been identified as a potential risk to this highly successful public health initiative. A scoping review was undertaken in October 2023 underpinned by the Arksey and O’Malley framework. Twenty-four papers were included in the review, many of which focused on cystic fibrosis. The results indicated that impact of false-positive results is variable; some studies suggest false-positive results have the potential to result in negative sequelae including increased stress and changes in parental perceptions of their child, while others suggest these impacts are transient and, in some instances, may even lead to positive outcomes. Further evidence is needed to ensure the representation of other conditions included in newborn bloodspot screening and to support strategies to overcome potential negative sequela. Full article

(This article belongs to the Special Issue Neonatal Screening: Recent and Future Developments)

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