Special Issue "State-of-the-Art in Newborn Screening"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Bioinformatics".

Deadline for manuscript submissions: closed (15 August 2022) | Viewed by 734

Special Issue Editors

Prof. Dr. Borut Peterlin
E-Mail Website
Guest Editor
Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia
Interests: public health genomics; genome projects; integratomics; neurogenetics; reproductive genetics; complex disorders
Dr. Richard B. Parad
E-Mail Website
Guest Editor
Brigham and Women's Hospital, Harvard Med School, Boston, MA, USA
Interests: newborn screening; pediatrics; genetics

Special Issue Information

Dear Colleagues,

Newborn screening (NBS) is a highly effective public health measure which improves outcomes through the early identification of rare disorders and the early initiation of therapies. The establishment of infrastructure to universally and systematically collect dried blood spot (DBS) samples from all newborns and register them in a central laboratory has allowed the expansion of screening from just phenylketonuria to dozens of disorders. While the Wilson and Jungner criteria have guided this expansion, the development of new usable and affordable technologies has been a key driver. The last major NBS expansion occurred when public health laboratories adopted high-throughput tandem mass spectroscopy for the identification of heritable metabolic disorders. Until the addition of SCID and SMA to NBS panels, DNA was not used as a primary screening analyte; however, screening algorithms for these disorders do not depend on next-generation sequencing (NGS). The use of DNA for the second-tier evaluation of DBS after detecting an abnormal level of a first-tier biochemical analyte has been increasing since the early use of variant panels in cystic fibrosis NBS algorithms. With the improvement of the efficiency, cost, and accessibility of high-throughput sequencing and the automation of preliminary interpretation, it is now conceivable to use DNA as a primary analyte to screen disorders for which there are no screenable analytes but early impactful therapies are available. This Special Issue on NGS in NBS will highlight the use of second-tier NGS for optimizing the positive predictive values of current screening algorithms, and will introduce concepts related to the potential value of primary NGS for the identification of treatable disorders that can only be screened for by the detection of pathogenic DNA variants.

Prof. Dr. Borut Peterlin
Dr. Richard B. Parad
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. Genes 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 (NBS)
  • dried blood spots (DBS)
  • genomics
  • next-generation sequencing (NGS)
  • rare diseases
  • DNA
  • machine learning

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:


Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
Genes 2022, 13(5), 802; https://doi.org/10.3390/genes13050802 - 29 Apr 2022
Viewed by 467
Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not commonly. In Europe, BD prevalence varies highly [...] Read more.
Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not commonly. In Europe, BD prevalence varies highly among different countries, e.g., from 1:7 116 in Turkey to 1:75 842 in Switzerland. This paper aimed to present the molecular spectrum of BD (profound and partial forms) in Polish patients diagnosed within the national NBS of 1,071,463 newborns. The initial suspicion of BD was based on an abnormal biotinidase activity result determined in a dry blood spot (DBS) by colorimetric and by fluorimetric methods while biochemical verification was determined by serum biotinidase activity (as quantitative analysis). The final diagnosis of BD was established by serum enzyme activity and the BTD gene direct sequencing. The obtained results allowed for the estimation of disease prevalence (1:66,966 births, while 1:178,577 for profound and 1:107,146 for partial forms), and gave novel data on the molecular etiology of BD. Full article
(This article belongs to the Special Issue State-of-the-Art in Newborn Screening)
Back to TopTop