Special Issue "Next Generation Sequencing (NGS) in Newborn Screening"

Special Issue Editors

Dr. Mei Baker
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Guest Editor
Wisconsin State Laboratory of Hygiene and Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA
Prof. Dr. Edwin Naylor
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Guest Editor
Consultant in Newborn Screening & Biochemical and Molecular Genetics; Department of Pediatrics (Genetics), Medical University of South Carolina, Charleston, SC, USA
Interests: newborn screening for Duchenne and congenital muscular dystrophy including DNA confirmation using targeted NGS; Prenatal and newborn screening for lead and other heavy metals (Inductively Coupled Plasma-Mass Spectrometry); use of tandem mass spectrometry for newborn screening; development of 2nd-tier DNA confirmation for primary newborn screening
Special Issues, Collections and Topics in MDPI journals
Dr. Peter C.J.I. Schielen
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Guest Editor
Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, next generation sequencing (NGS) has secured a place in newborn screening. Early papers still described concepts, which especially invited a bio-ethical discussion on the pros and cons of the introduction of NGS, be it targeted or as a whole genome or exome approach. That did not stop the technical and epidemiological developments. Thus, these days, NGS technology is actually applied within newborn screening, almost exclusively in a second TIER setting, but this may change very soon. Developments concerning NGS in NBS have been quite astounding and we feel that it is time to determine where we are in this development, what is already in place, and what yet needs to be done.

This Special Issue on NGS in Newborn screening invites papers on the following:

  • Application of NGS in NBS in current practice
  • Proof of principle applications and retrospective studies
  • Prospective pilot studies
  • Application in current routine practice, both first TIER and second TIER
  • Contributions concerning medical ethical issues of NGS in NBS
  • QC QA issues/proficiency samples in NGS

Dr. Mei Baker
Dr. Peter C.J.I. Schielen
Prof. Dr. Edwin Naylor
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 papers will be 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.

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Published Papers (3 papers)

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Article
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Int. J. Neonatal Screen. 2021, 7(3), 50; https://doi.org/10.3390/ijns7030050 - 26 Jul 2021
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Abstract
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful [...] Read more.
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme. Full article
(This article belongs to the Special Issue Next Generation Sequencing (NGS) in Newborn Screening)
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Commentary
Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing
Int. J. Neonatal Screen. 2021, 7(4), 63; https://doi.org/10.3390/ijns7040063 - 30 Sep 2021
Viewed by 268
Abstract
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In this [...] Read more.
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In this commentary, we discuss how next-generation sequencing (NGS) methods can be used as a secondary testing method in NBS. Additionally, we elaborate on the importance of genomic variant repositories for the annotation and interpretation of variants. Barriers to the incorporation of NGS and bioinformatics within NBS are discussed, and ideas for a regional bioinformatics model and shared variant repository are presented as potential solutions. Full article
(This article belongs to the Special Issue Next Generation Sequencing (NGS) in Newborn Screening)
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Case Report
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant
Int. J. Neonatal Screen. 2021, 7(1), 9; https://doi.org/10.3390/ijns7010009 - 05 Feb 2021
Viewed by 889
Abstract
A variant in the POLG gene is the leading cause of a heterogeneous group of mitochondrial disorders. No definitive treatment is currently available. Prenatal and newborn screening have the potential to improve clinical outcome of patients affected with POLG-related disorders. We reported [...] Read more.
A variant in the POLG gene is the leading cause of a heterogeneous group of mitochondrial disorders. No definitive treatment is currently available. Prenatal and newborn screening have the potential to improve clinical outcome of patients affected with POLG-related disorders. We reported a 4-month-old infant who presented with developmental delay, fever, and diarrhea. Within two weeks after hospital admission, the patient developed hepatic failure and died. Liver necropsy demonstrated an extensive loss of hepatocytes and bile duct proliferations. Trio-whole exome sequencing identified that the patient was compound heterozygous for a novel frameshift variant c.3102delG (p.Lys1035Serfs*59) and a common variant c.3286C>T (p.Arg1096Cys) in POLG (NM_002693.3) inherited from the mother and father, respectively. The c.3102delG (p.Lys1035Serfs*59) was a null variant and classified as pathogenic according to the American College of Medical Genetics and Genomics Standards and Guidelines. Prenatal genetic screenings using rapid whole exome sequencing successfully detected the heterozygous c.3286C>T variant in the following pregnancy and the normal alleles in the other one. Both children had been healthy. We reviewed all 34 cases identified with the POLG c.3286C>T variant and found that all 15 compound heterozygous cases had two missense variants except our patient who had the truncating variant and showed the earliest disease onset, rapid deterioration, and the youngest death. All homozygous cases had disease onset before age 2 and developed seizure. Here, we report a novel POLG variant expanding the genotypic spectrum, demonstrate the successful use of exome sequencing for prenatal and neonatal screenings of POLG-related disorders, and show the genotype–phenotype correlation of the common c.3286C>T variant. Full article
(This article belongs to the Special Issue Next Generation Sequencing (NGS) in Newborn Screening)
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