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Children
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Current Challenges and Advances in Newborn Screening
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Current Challenges and Advances in Newborn Screening

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neonatology".

Deadline for manuscript submissions: 15 August 2024 | Viewed by 6346

Special Issue Editors

Dr. Miguel A. Alcántara-Ortigoza

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Guest Editor
Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, Mexico
Interests: human molecular genetics; inborn metabolic diseases; molecular diagnostics; monogenic diseases
Dr. Marcela Vela Amieva

E-Mail Website
Guest Editor
Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, Mexico
Interests: hyperphenylalaninemias; phenylketonuria; biochemical neonatal screening; inborn metabolic diseases; congenital hypothyroidism
Prof. Dr. Augusto Rojas-Martinez

E-Mail Website
Guest Editor
Human Genetics, School of Medicine and Health Sciences, Campus Monterrey, School of Medicine and Health Sciences, Tecnológico de Monterrey, Monterrey, Mexico
Interests: genomic approaches for complex diseases such as cancer, diabetes, hypertension, schizophrenia, congenita malformations, and addictions; gene therapy trials

Special Issue Information

Dear Colleagues,

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
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. 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.

Keywords

  • 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

Published Papers (5 papers)

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Research

Jump to: Review, Other

14 pages, 3339 KiB  
Communication
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening
by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía and Cynthia Fernández-Lainez
Children 2023, 10(12), 1865; https://doi.org/10.3390/children10121865 - 28 Nov 2023
Viewed by 890
Abstract
Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood concentration exceeds 360 μmol/L (6 mg/dL). Here, [...] Read more.
Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood concentration exceeds 360 μmol/L (6 mg/dL). Here, we describe a female HPA patient who was born in Mexico to Cuban non-consanguineous parents and identified by newborn screening, and who bears the previously unreported PAH NM_000277.3(PAH):c.[229T>C];[1222C>T] or p.[Tyr77His];[Arg408Trp] genotype. At diagnosis, the patient showed a Phe blood level of 321 μmol/L (5.3 mg/dL), indicative of mild HPA. Neither of the PAH variants found in this patient had been previously reported in the mutational PAH spectrum of the Mexican population. The c.229T>C or p.(Tyr77His) PAH variant was previously related to mild HPA in the Swedish population. Our in silico structural analysis and molecular docking showed that mutated His 77 residue is located in the allosteric site of PAH at the interface of the two monomers. The PDBsum in silico tool predicted that this variant would cause minimal structural disturbance of the protein interface in the presence of Phe at the allosteric site. Docking studies revealed that these structural changes might be attenuated by the allosteric effect of Phe. Given the classic PKU phenotype conditioned by the “Celtic” or c.[1222C>T] or p.(Arg408Trp) PAH variant, which is the second variant in this patient, we propose that p.(Tyr77His) has a hypomorphic feature that could explain her mild HPA phenotype. Our results show the importance of following up on cases detected by NBS and the value of genetic studies and in silico tools that aid in the establishment of correct therapeutic strategies. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Newborn Screening)
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14 pages, 766 KiB  
Article
Parental Preferences for Expanded Newborn Screening: What Are the Limits?
by Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty and Robin Z. Hayeems
Children 2023, 10(8), 1362; https://doi.org/10.3390/children10081362 - 9 Aug 2023
Cited by 1 | Viewed by 1161
Abstract
The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of conditions. We explored parental preferences and attitudes towards screening for conditions for which varying types of treatment exist with a [...] Read more.
The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of conditions. We explored parental preferences and attitudes towards screening for conditions for which varying types of treatment exist with a cross-sectional survey completed by 100 parents of newborns who received NBS in Ontario, Canada. The survey included four vignettes illustrative of hypothetical screening targets, followed by questions assessing parental attitudes. Chi-square tests were used to compare frequency distributions of preferences. Results show that most parents supported NBS for conditions for which only supportive interventions are available, but to a significantly lesser degree than those with disease-specific treatments (99% vs. 82–87%, p ≤ 0.01). For conditions without an effective treatment, the type of supportive care and age of onset of the condition did not significantly alter parent perceptions of risks and benefits. Parents are interested in expanded NBS for conditions with only supportive interventions in childhood, despite lower levels of perceived benefit for the child and greater anticipated anxiety from screen-positive results. These preferences suggest that the expansion of NBS may require ongoing deliberation of perceived benefits and risks and enhanced approaches to education, consent, and support. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Newborn Screening)
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Review

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13 pages, 776 KiB  
Review
An Insight into Indonesia’s Challenges in Implementing Newborn Screening Programs and Their Future Implications
by Gilbert Sterling Octavius, Vamela Adman Daleni and Yulita Delfia Sari Sagala
Children 2023, 10(7), 1216; https://doi.org/10.3390/children10071216 - 13 Jul 2023
Cited by 2 | Viewed by 1309
Abstract
Due to high entry barriers, countries might find it daunting to implement the NBS program, especially those just trying to start it. This review aims to discuss Indonesia’s barriers that hinder newborn screening (NBS) implementation while discussing the future implications. Literature in Pubmed [...] Read more.
Due to high entry barriers, countries might find it daunting to implement the NBS program, especially those just trying to start it. This review aims to discuss Indonesia’s barriers that hinder newborn screening (NBS) implementation while discussing the future implications. Literature in Pubmed and Google Scholar was scoured with keywords such as “Newborn Screening”, “Neonatal Screening”, “Indonesia”, “Asia Pacific”, “Barriers”, and “Challenges”. We also searched for relevant references in those published articles. Grey literature, such as state regulations, informative webinars on the topics by experts regarding current situations, and press releases by the Indonesian Minister of Health (MoH), was also searched. Newborn screening is no longer considered just a laboratory test but an array of well-harmonized systems that must be orchestrated well. Some of the barriers Indonesia faces in implementing NBS are a lack of prevalence data, ethical issues, infrastructure, cost-benefit analysis, logistical issues, government support, patient issues, a lack of commitments, and a lack of healthcare workers, specialization, and training. Government support with professional advocates and support groups, proper infrastructure, and a single-payer system for NBS programs are necessary to accelerate NBS programs in Indonesia. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Newborn Screening)
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Other

Jump to: Research, Review

19 pages, 6039 KiB  
Systematic Review
Diagnostic Accuracy of Physical Examination and Pulse Oximetry for Critical Congenital Cardiac Disease Screening in Newborns
by Jari T. van Vliet, Naizihijwa G. Majani, Pilly Chillo and Martijn G. Slieker
Children 2024, 11(1), 47; https://doi.org/10.3390/children11010047 - 29 Dec 2023
Viewed by 1359
Abstract
Background: Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. [...] Read more.
Background: Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. Pulse oximetry has been proposed in numerous studies as an alternative screening method. This systematic review and meta-analysis aims to determine the diagnostic accuracies of both screening methods separately and combined. Methods: A systematic literature search of the Embase, PubMed, and Global Health databases up to 30 November 2023 was conducted with the following keywords: critical congenital heart disease, physical examination, clinical scores, pulse oximetry, and echocardiography. The search included all studies conducted in the newborn period using both physical examination and pulse oximetry as screening methods and excluded newborns admitted to the intensive care unit. All studies were assessed for risk of bias and applicability concerns using the QUADAS-2 score. The review adhered to the PRISMA 2020 statement guideline. Results: Out of 2711 articles, 20 articles were selected as eligible for meta-analysis. Cumulatively, the sample included 872,549 screened newborns. The pooled sensitivity of the physical examination screening method was found to be 0.69 (0.66–0.73 (95% CI)) and specificity was found to be 0.98 (0.98–0.98). For the pulse oximetry screening method, the pooled sensitivity and specificity yielded 0.78 (0.75–0.82) and 0.99 (0.99–0.99), respectively. The combined method of screening yielded improved diagnostic characteristics at a sensitivity and specificity of 0.93 (0.91–0.95) and 0.98 (0.98–0.98, respectively. Conclusions: The evidence indicates that combining both physical examination and pulse oximetry to screen for critical congenital heart disease exceeds the accuracy of either separate method. The main limitation is that solely newborns with suspected critical congenital heart disease were subjected to the reference standard. We recommend adapting both methods to screen for critical congenital heart diseases, especially in settings lacking standard fetal ultrasound screening. To increase the sensitivity further, we recommend increasing the screening time window and employing the peripheral perfusion index. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Newborn Screening)
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7 pages, 401 KiB  
Brief Report
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns
by Takanori Onuki, Shota Hiroshima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Keisuke Nagasaki and Hiromi Nyuzuki
Children 2023, 10(8), 1341; https://doi.org/10.3390/children10081341 - 3 Aug 2023
Viewed by 764
Abstract
Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed [...] Read more.
Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity. Methods: This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021. Result: there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PCD) and 1 with 3-methylcrotonyl-CoA carboxylase deficiency) out of 5 who underwent examination among 18 false positives. The opportunity for diagnosis was low C0 and high C5-OH acylcarnitine levels in their newborn. Two novel SLC22A5 variants (c.1063T > C/c.1266A > G) were identified in patients with PCD. None of the patients had any complications at the time of diagnosis, but two patients showed improvement in fatigue and headache after taking oral carnitine. Conclusion: New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel SLC22A5 variants further expand the variant spectrum of PCD. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Newborn Screening)
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