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Special Issue "Psychosocial Burden of Positive Newborn Screening"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 5711
Special Issue Editors
Interests: newborn bloodspot screening; cystic fibrosis; communiation; sickle cell disease; IMDs; genetic information sharing
Special Issue Information
The purpose of newborn bloodspot screening (NBS) is identification of pre-symptomatic babies, as early identification and initiation of treatment improves long-term outcomes. Challenges exist in terms of communicating positive NBS results to families. This is partly due to variability in terms of the clinical spectrum in screen-positive cases; while most babies who receive a positive NBS result will later be confirmed as affected or where relevant, carriers of the condition screened for. Other outcomes include false-positive results, borderline results for congenital hypothyroidism (CHT) and the designation of cystic fibrosis (CF) screen-positive, inconclusive diagnosis (CFSPID). These outcomes can cause uncertainty for both parents and health care professionals. Consequently, communication to parents needs to be carefully crafted to minimize potentially harmful negative psychosocial sequelae.
Furthermore, early identification—particularly for babies who are asymptomatic—and inconclusive diagnoses can lead to a paradigm shift in terms of parental perceptions of illness and disease. This can be challenging for parents who may doubt their competence to recognize when their baby is unwell, and struggle with how the diagnosis fits with their perception of their baby’s identity. A positive NBS result often also leads to sudden, unexpected and extensive involvement of a range of health care professionals in the child and family’s life.
This Special Issue of the International Journal of Neonatal Screening on Psychosocial Burden of Positive Newborn Screening will focus on the potential impact of positive NBS on the child and their family, particularly when the outcome leads to a degree of uncertainty, and how this can potentially be managed to reduce associated negative psychosocial outcomes.
Dr. Jane Chudleigh
Leah E. Hecht
Guest Editor Assistant
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 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.
- newborn screening
- cystic fibrosis
- inherited metabolic diseases
- congenital hypothyroidism
- genetic information