Special Issue "Current Challenges and Advances in Newborn Screening"
Deadline for manuscript submissions: closed (5 December 2023) | Viewed by 2779
Interests: human molecular genetics; inborn metabolic diseases; molecular diagnostics; monogenic diseases
Interests: hyperphenylalaninemias; phenylketonuria; biochemical neonatal screening; inborn metabolic diseases; congenital hypothyroidism
Interests: genomic approaches for complex diseases such as cancer, diabetes, hypertension, schizophrenia, congenita malformations, and addictions; gene therapy trials
It is a great honor to serve as the Guest Editor for this Special Issue of Children, entitled “Current Challenges and Advances in Newborn Screening”. Since 1961, when Dr. Guthrie designed the first newborn screening (NBS) test for phenylketonuria, this field has evolved rapidly. Mainly in developed countries, the application of carefully designed NBS programs supported by high-throughput methodologies such as mass spectrometry, genomic analysis by routine molecular techniques, or even by massive-paralleled sequencing, has opened up the possibility to identify pre-symptomatic newborns affected by fatal diseases, some of them amenable to specific treatments. However, these achievements have not been globally reached, as several populations have not benefited from these advances, and there is no consensus on the management of incidental or uncertain significance findings of genomic sequencing; additionally, novel treatment strategies for fatal diseases have forced us to modify newborn screening program policies to achieve an early pre-symptomatic diagnosis of these diseases, leading to several social, ethical, and legal issues to be addressed.
The goal of this Special Issue is to discuss the most significant advances, achievements, and encountered limitations of newborn screening programs around the world, as well as their impact on public health concerns, and the resulting social, ethical, and legal issues. Further, we encourage technical or quality assurance communications from newborn screening laboratories addressing improvements or limitations either from screening or confirmatory assays.
We invite investigators to contribute original research articles, as well as review articles that will stimulate the continuing efforts to improve our understanding in this challenging field.
We look forward to receiving your contributions.
Dr. Miguel A. Alcántara-Ortigoza
Dr. Marcela Vela Amieva
Prof. Dr. Augusto Rojas-Martinez
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.
- newborn screening programs
- inborn errors of metabolism
- genetic testing
- hearing loss newborn screening
- newborn cardiological screening
- genomic sequencing
- mass spectrometry techniques
- ethical, legal, and social issues
- quality assurance