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Genetic Newborn Screening
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Genetic Newborn Screening

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 10 May 2024 | Viewed by 3425

Special Issue Editors

Dr. Hisahide Nishio

E-Mail Website
Guest Editor
Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan
Interests: genetics; spinal muscular atrophy
Prof. Dr. Hiroyuki Awano

E-Mail Website
Guest Editor
Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan
Interests: neuromuscular disorders; Duchenne/Becker muscular dystrophy; spinal muscular atrophy; newborn screening

Special Issue Information

Dear Colleagues,

Newborn screening (NBS) has been conventionally performed by measuring disease-specific biomarkers with advanced technologies (biomarker NBS). Recently, however, spinal muscular atrophy (SMA) has been screened using genetic analysis in the neonatal period (genetic NBS). The genetic NBS program will be widely spread in the near future.

Genetic NBS does not need to rely on disease-specific biomarkers. It means that the same analytical method can be used to find patients with genetic disorders. Genetic NBS contributes to the healthy development of children with various genetic disorders, as does biomarker NBS. Here, we demonstrate the advances in the genetic analysis of newborn screening.

This Special Issue will present new methodologies for genetic NBS systems, outcomes of early treatments for the patients identified by genetic NBS testing, the new target diseases of genetic NBS programs, the molecular pathological mechanisms newly identified by genetic NBS researchers and accurate epidemiological findings based on genetic NBS data. This Special Issue will also present the advances in biomarker NBS followed by the genetic analysis of NBS-positive patients.

The editorial office of Genes would like to collect papers on the medical aspects of genetic NBS, such as those mentioned above. We also welcome the papers on biomarker NBS followed by genetic analysis.

In this Special Issue, new genetic methods for the early diagnosis of diseases in infants will be discussed. However, infant disease and fetal disease are on a continuum. Thus, newborn screening (or neonatal diagnosis) and prenatal diagnosis are very close. For example, to detect chromosomal abnormalities in fetuses, non-invasive prenatal genetic testing (NIPT) is increasingly performed worldwide. This is a type of genetic screening performed on the baby in the mother's womb. We think about the scope of the Special Issue in this way. Therefore, we welcome submissions of papers related to prenatal diagnosis using genetic analysis and chromosome analysis.

In addition, we are now planning to invite physicians currently engaged in genetic newborn screening for SMA, or those working to introduce genetic newborn screening for SMA to their countries. Many researchers are eager to gather information on the reality of newborn screening for SMA across the globe.

Dr. Hisahide Nishio
Prof. Dr. Hiroyuki Awano
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 2600 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 program
  • genetic newborn screening
  • biomarker newborn screening
  • genetic analysis

Published Papers (3 papers)

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13 pages, 944 KiB  
Article
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
by Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda and Shinobu Ida
Genes 2024, 15(3), 314; https://doi.org/10.3390/genes15030314 - 28 Feb 2024
Viewed by 906
Abstract
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible [...] Read more.
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible to simultaneously screen for severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative real-time polymerase chain reaction (qPCR) assays. We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and SMA were diagnosed through the optional NBS and treated at early stages (before symptoms appeared). Our results show how multiplex PCR-based NBS can benefit large-scale NBS implementation projects for new target diseases. Full article
(This article belongs to the Special Issue Genetic Newborn Screening)
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12 pages, 941 KiB  
Article
Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan
by Shoko Sonehara, Ryosuke Bo, Yoshinori Nambu, Kiiko Iketani, Tomoko Lee, Hideki Shimomura, Masaaki Ueda, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hisahide Nishio and Hiroyuki Awano
Genes 2023, 14(12), 2211; https://doi.org/10.3390/genes14122211 - 14 Dec 2023
Cited by 1 | Viewed by 1084
Abstract
Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings [...] Read more.
Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings of the initial 2.5 years of a pilot SMA-NBS of approximately 16,000 infants conducted from February 2021 in Hyogo Prefecture, Japan. Clinical data of 17 infants who tested positive were retrospectively obtained from the NBS follow-up centers participating in this multicenter cohort observational study. Genetic testing revealed 14 false positives, and three infants were diagnosed with SMA. Case 1 had two copies of survival motor neuron (SMN) 2 and showed SMA-related symptoms at diagnosis. Case 2 was asymptomatic, with two copies of SMN2. Asymptomatic case 3 had four copies of SMN2 exon 7, including the SMN1/2 hybrid gene. Cases 1 and 2 were treated within 1 month and case 3 at 8 months. All the patients showed improved motor function scores and did not require respiratory support. The identification of infants with SMA via NBS and early treatment improved their motor and respiratory outcomes. Thus, implementation of SMA-NBS at a nationwide scale should be considered. Full article
(This article belongs to the Special Issue Genetic Newborn Screening)
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14 pages, 2203 KiB  
Article
Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots
by Yoshihiro Bouike, Makoto Sakima, Yuya Taninishi, Takanori Matsutani, Yoriko Noguchi, Ryosuke Bo, Hiroyuki Awano and Hisahide Nishio
Genes 2023, 14(12), 2159; https://doi.org/10.3390/genes14122159 - 29 Nov 2023
Viewed by 923
Abstract
The survival motor neuron 2 (SMN2) gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of SMN2—other than its modification of SMA phenotypes—is very limited. Discussions regarding the relationship between homozygous SMN2 [...] Read more.
The survival motor neuron 2 (SMN2) gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of SMN2—other than its modification of SMA phenotypes—is very limited. Discussions regarding the relationship between homozygous SMN2 deletion and motor neuron diseases, including amyotrophic lateral sclerosis, have been mainly based on retrospective epidemiological studies of the diseases, and the precise relationship remains inconclusive. In the present study, we first estimated that the frequency of homozygous SMN2 deletion was ~1 in 20 in Japan. We then established a real-time polymerase chain reaction (PCR)-based screening method using residual dried blood spots to identify infants with homozygous SMN2 deletion. This method can be applied to a future prospective cohort study to clarify the relationship between homozygous SMN2 deletion and motor neuron diseases. In our real-time PCR experiment, both PCR (low annealing temperatures) and blood (high hematocrit values and low white blood cell counts) conditions were associated with incorrect results (i.e., false negatives and positives). Together, our findings not only help to elucidate the role of SMN2, but also aid in our understanding of the pitfalls of current SMA newborn screening programs for detecting homozygous SMN1 deletions. Full article
(This article belongs to the Special Issue Genetic Newborn Screening)
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