International Journal of Neonatal Screening

International Journal of Neonatal Screening publishes Special Issues to create collections of papers on specific topics, with the aim of building a community of authors and readers to discuss the latest research and develop new ideas and research directions. Special Issues are led by Guest Editors, who are experts on the topic and all Special Issue submissions follow MDPI's standard editorial process. The journal’s Editor-in-Chief and/or designated Editorial Board Member will oversee Guest Editor appointments and Special Issue proposals, checking their content for relevance and ensuring the suitability of the material for the journal. The papers published in a Special Issue will be collected and displayed on a dedicated page of the journal’s website. Further information on MDPI's Special Issue policies and Guest Editor responsibilities can be found here. For any inquiries related to a Special Issue, please contact the Editorial Office.

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Advances in Newborn Screening for Lysosomal Disorders: From Laboratory Screening to Diagnosis

edited by

Barbara K. Burton

and

Joseph Orsini

submission deadline 31 Aug 2026 | 6 articles | Viewed by 12738 | Submission Open

Keywords: krabbe disease; metachromatic leukodystrophy; pompe disease; mucopolysaccharidosis type I and II; MPS IVA; VI and VII; fabry disease; gaucher disease; lysosomal disorders; newborn screening

Newborn Screening for Physical/Structural Birth Defects

edited by Carmencita D. Padilla and

Dianne Webster

submission deadline 31 Aug 2026 | 1 articles | Viewed by 912 | Submission Open

Keywords: physical birth defects; newborn screening; neural tube defects; clubfoot; clefts; abdominal wall defects

The Impact of Second-Tier Tests on Newborn Screening Performance: Benefits and Challenges

edited by Dietrich Matern and Patricia Hall

submission deadline 30 Sep 2026 | 1 articles | Viewed by 877 | Submission Open

Keywords: newborn screening; second tier test; reflex test; orthogonal test; test performance; positive predictive value; false positive rate; health economics

Tracking, Treatment, and Trust: Evolving Follow-Up Practices in Newborn Screening

edited by

Amy Gaviglio

submission deadline 1 Oct 2026 | Viewed by 336 | Submission Open

Keywords: newborn screening; public health; post-screening; short‑ and long-term follow-up

Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?

edited by

Stephan Lobitz

, Béatrice Gulbis, Yvonne Daniel and Raffaella Colombatti

submission deadline 31 Oct 2026 | 3 articles | Viewed by 4585 | Submission Open

Keywords: sickle cell disease; hemoglobinopathies; thalassaemia; point-of-care testing; next-generation sequencing; follow-up

Equity Issues in Newborn Screening

edited by

Lynn Wein Bush

, Juan Francisco Cabello and

Amy Brower

submission deadline 31 Dec 2026 | 2 articles | Viewed by 4805 | Submission Open

Keywords: equity in newborn screening; equity in public health and newborn sequencing; equity in newborn genomics; equity in sequencing of newborns; public health and newborn screening; long-term follow-up; public health in genetic diagnosis of newborns; global newborn screening access; newborn screening and access to care

Newborn Screening Developing Programs in Asia

edited by

Bradford L. Therrell

and Carmencita D. Padilla

submission deadline 31 Dec 2026 | 1 articles | Viewed by 542 | Submission Open

Keywords: newborn screening; international atomic energy agency (IAEA); cost benefit/cost effectiveness; infant mortality; ministry of health; partnerships; sustainability; expansion

Genomic Newborn Screening in Public Health: Ethical, Legal, Social, and Psychological Perspectives

edited by

Lynn Wein Bush

Amy Gaviglio

and Callum Wilson

submission deadline 31 Mar 2027 | Viewed by 276 | Submission Open

Keywords: genomic newborn screening; public health newborn genomics; public health neonatal sequencing; neonatal genomics; public health newborn sequencing; newborn genomic screening; newborn screening genomics; incidental findings; secondary findings; carrier status; best interest of the child; adult onset; uncertainty; variable phenotype; bioethics; ELSI; psychosocial; psychological

Genetic and Genomic Technologies in Newborn Screening: Current Applications and Future Directions

edited by Urh Groselj,

Peter C. J. I. Schielen

Natasha Heather

, Jernej Kovač and Alexander D. Rowe

submission deadline 31 Mar 2027 | Viewed by 262 | Submission Open

Keywords: newborn screening; next-generation sequencing; genomic newborn screening; genetic and genomic technologies; molecular testing; second-tier genetic testing

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