Journal Description
International Journal of Neonatal Screening
International Journal of Neonatal Screening
is an international, peer-reviewed, open access journal on neonatal screening and neonatal medicine published quarterly online by MDPI. The journal is owned by the International Society for Neonatal Screening (ISNS). The International Society for Neonatal Screening (ISNS), German Society for Neonatal Screening (DGNS), the Japanese Society for Neonatal Screening (JSNS), the Association of Public Health Laboratories (APHL) and the UK Newborn Screening Laboratory Network (UKNSLN) are affiliated with IJNS and their members receive discounts on the article processing charges.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, Embase, and other databases.
- Journal Rank: JCR - Q1 (Genetics and Heredity) / CiteScore - Q1 (Pediatrics, Perinatology and Child Health)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 28.8 days after submission; acceptance to publication is undertaken in 6.5 days (median values for papers published in this journal in the first half of 2024).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
4.0 (2023);
5-Year Impact Factor:
3.6 (2023)
Latest Articles
Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents
Int. J. Neonatal Screen. 2024, 10(3), 55; https://doi.org/10.3390/ijns10030055 - 1 Aug 2024
Abstract
Three incidents that impacted two US newborn screening (NBS) programs highlight the importance of contingency planning for the continuity of operations (COOP). Other NBS programs may benefit from the experience of these state programs for their own contingency planning efforts. Through after-action reviews
[...] Read more.
Three incidents that impacted two US newborn screening (NBS) programs highlight the importance of contingency planning for the continuity of operations (COOP). Other NBS programs may benefit from the experience of these state programs for their own contingency planning efforts. Through after-action reviews conducted post-incident, crucial elements for the successful management of an incident were identified. We detailed the strengths, weaknesses, improvements needed, and future actions that will assist in preparing for other incidents as lessons learned.
Full article
Open AccessArticle
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
by
Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser and Russell J. Butterfield
Int. J. Neonatal Screen. 2024, 10(3), 54; https://doi.org/10.3390/ijns10030054 - 22 Jul 2024
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and
[...] Read more.
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of the proximal voluntary muscles. Approximately 95% of SMA patients present with homozygous deletion of the SMN1 gene. With multiple available therapies preventing symptom development and slowing disease progression, newborn screening for SMA is essential to identify at-risk individuals. From 2018 to 2023, a total of 239,844 infants were screened. 13 positive screens were confirmed to have SMA. An additional case was determined to be a false positive. We are not aware of any false-negative cases. All patients were seen promptly, with diagnosis confirmed within 1 week of the initial clinical visit. Patients were treated with nusinersen or onasemnogene abeparvovec. Treated patients with two copies of SMN2 are meeting important developmental milestones inconsistent with the natural history of type 1 SMA. Patients with 3–4 copies of SMN2 follow normal developmental timelines. Newborn screening is an effective tool for the early identification and treatment of patients with SMA. Presymptomatic treatment dramatically shifts the natural history of SMA, with most patients meeting appropriate developmental milestones. Patients with two copies of SMN2 identified through newborn screening constitute a neurogenetic emergency. Due to the complexities of follow-up, a multidisciplinary team, including close communication with the newborn screening program, is required to facilitate timely diagnosis and treatment.
Full article
(This article belongs to the Special Issue Newborn Screening for SMA—State of the Art)
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<p>Critical time points in SMA NBS follow-up. One case was excluded as confirmatory testing was sent prior to the return of positive NBS due to a known prenatal diagnosis. DOB, date of birth; NBS, newborn screen; Dx, diagnosis; Tx, treatment.</p> Full article ">Figure 2
<p>Observed attainment of developmental milestones in the treated patients. Developmental milestones were observed as obtained by the above time as assessed and/or recorded during routine physical therapy/neurology follow-up or by parent report. The end of the bars represents the current patient age. One patient with SMA type 0 clinical presentation was excluded from this figure as the patient did not meet any developmental milestones.</p> Full article ">Figure 3
<p>Longitudinal developmental outcomes (BSID Gross Motor Growth Scores). The color of the lines corresponds to the <span class="html-italic">SMN2</span> copy number of the patient (red = 2 <span class="html-italic">SMN2</span> copies, blue = 3 <span class="html-italic">SMN2</span> copies, and green = 4 <span class="html-italic">SMN2</span> copies); solid lines represent asymptomatic patients at the time of treatment; dashed lines represent symptomatic patients at the time of treatment; the dashed black line represents the 95th percentile of neurotypical age-matched peers; and the dotted black line represents the 5th percentile of neurotypical age-matched peers. Two patients were excluded from analysis due to treatment in clinical trials; thus, detailed developmental outcomes were unavailable. However, both are noted to be typically developing. A third patient with SMA type 0 clinical presentation was also excluded due to a BSID score of 0.</p> Full article ">Figure 4
<p>Longitudinal CHOP INTEND scores in the Utah NBS cohort. Visit time points are represented with circles and connected with lines for visualization purposes. The color of the lines corresponds to the <span class="html-italic">SMN2</span> copy number of a patient (red = 2 <span class="html-italic">SMN2</span> copies, blue = 3 <span class="html-italic">SMN2</span> copies, and green = 4 <span class="html-italic">SMN2</span> copies); solid lines represent asymptomatic patients at the time of treatment; and dashed lines represent symptomatic patients at the time of treatment. Two patients were excluded from analysis due to treatment in clinical trials; thus, detailed developmental outcomes were unavailable. However, both are noted to be typically developing. A third patient with SMA type 0 clinical presentation was also excluded.</p> Full article ">
<p>Critical time points in SMA NBS follow-up. One case was excluded as confirmatory testing was sent prior to the return of positive NBS due to a known prenatal diagnosis. DOB, date of birth; NBS, newborn screen; Dx, diagnosis; Tx, treatment.</p> Full article ">Figure 2
<p>Observed attainment of developmental milestones in the treated patients. Developmental milestones were observed as obtained by the above time as assessed and/or recorded during routine physical therapy/neurology follow-up or by parent report. The end of the bars represents the current patient age. One patient with SMA type 0 clinical presentation was excluded from this figure as the patient did not meet any developmental milestones.</p> Full article ">Figure 3
<p>Longitudinal developmental outcomes (BSID Gross Motor Growth Scores). The color of the lines corresponds to the <span class="html-italic">SMN2</span> copy number of the patient (red = 2 <span class="html-italic">SMN2</span> copies, blue = 3 <span class="html-italic">SMN2</span> copies, and green = 4 <span class="html-italic">SMN2</span> copies); solid lines represent asymptomatic patients at the time of treatment; dashed lines represent symptomatic patients at the time of treatment; the dashed black line represents the 95th percentile of neurotypical age-matched peers; and the dotted black line represents the 5th percentile of neurotypical age-matched peers. Two patients were excluded from analysis due to treatment in clinical trials; thus, detailed developmental outcomes were unavailable. However, both are noted to be typically developing. A third patient with SMA type 0 clinical presentation was also excluded due to a BSID score of 0.</p> Full article ">Figure 4
<p>Longitudinal CHOP INTEND scores in the Utah NBS cohort. Visit time points are represented with circles and connected with lines for visualization purposes. The color of the lines corresponds to the <span class="html-italic">SMN2</span> copy number of a patient (red = 2 <span class="html-italic">SMN2</span> copies, blue = 3 <span class="html-italic">SMN2</span> copies, and green = 4 <span class="html-italic">SMN2</span> copies); solid lines represent asymptomatic patients at the time of treatment; and dashed lines represent symptomatic patients at the time of treatment. Two patients were excluded from analysis due to treatment in clinical trials; thus, detailed developmental outcomes were unavailable. However, both are noted to be typically developing. A third patient with SMA type 0 clinical presentation was also excluded.</p> Full article ">
Open AccessCase Report
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
by
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati and Marta Camilot
Int. J. Neonatal Screen. 2024, 10(3), 53; https://doi.org/10.3390/ijns10030053 - 18 Jul 2024
Abstract
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Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the newborn screening (NBS) panels but it can be
[...] Read more.
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the newborn screening (NBS) panels but it can be incidentally identified when investigating methylmalonic acidemia and propionic acidemia. Here, we report for the first time the biochemical description of a case detected by NBS. The NBS results showed increased levels of propionylcarnitine (C3) and 2-methylcitric acid (MCA), while methylmalonic acid (MMA) and homocysteine (Hcy) were within the reference limits. Confirmatory analyses revealed altered levels of metabolites, including MCA and MMA, suggesting a block in the propionate degradation pathway. The analysis of methylmalonic pathway genes by next-generation sequencing (NGS) allowed the identification of the known homozygous nonsense variation c.139C>T (p.R47X) in exon 2 of the MCE gene. Conclusions: Elevated concentrations of C3 with a slight increase in MCA and normal MMA and Hcy during NBS should prompt the consideration of MCEE deficiency in differential diagnosis. Increased MMA levels may be negligible at NBS as they may reach relevant values beyond the first days of life and thus could be identified only in confirmatory analyses.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00053/article_deploy/html/images/IJNS-10-00053-g001-550.jpg?1721370783)
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Open AccessArticle
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil
by
Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário and Ivani Novato Silva
Int. J. Neonatal Screen. 2024, 10(3), 52; https://doi.org/10.3390/ijns10030052 - 18 Jul 2024
Abstract
A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10
[...] Read more.
A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV.
Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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<p>PTN-MG flowchart for diagnosis of congenital hypothyroidism between November 2021 and August 2022. b-TSH: filter-paper blood-spot TSH; s-TSH: serum TSH; fT4: free T4; Trab: TSH receptor autoantibodies; TPA: Thyroid Peroxidase Antibody; Tg: Thyroglobulin; RV: reference value.</p> Full article ">Figure 2
<p>Flowchart of cases of congenital hypothyroidism diagnosed between November 2021 and August 2022 in Minas Gerais. b-TSH: filter-paper blood-spot TSH; CH: congenital hypothyroidism. Normal screenings include subjects who had a normal first sample and those whose screening was normalized in the second sample. False negatives: three confirmed cases diagnosed by clinical signs in the period.</p> Full article ">
<p>PTN-MG flowchart for diagnosis of congenital hypothyroidism between November 2021 and August 2022. b-TSH: filter-paper blood-spot TSH; s-TSH: serum TSH; fT4: free T4; Trab: TSH receptor autoantibodies; TPA: Thyroid Peroxidase Antibody; Tg: Thyroglobulin; RV: reference value.</p> Full article ">Figure 2
<p>Flowchart of cases of congenital hypothyroidism diagnosed between November 2021 and August 2022 in Minas Gerais. b-TSH: filter-paper blood-spot TSH; CH: congenital hypothyroidism. Normal screenings include subjects who had a normal first sample and those whose screening was normalized in the second sample. False negatives: three confirmed cases diagnosed by clinical signs in the period.</p> Full article ">
Open AccessArticle
CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
by
Francis K. Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert Vogt, Rachel Lee, Carla Cuthbert and Suzanne Cordovado
Int. J. Neonatal Screen. 2024, 10(3), 51; https://doi.org/10.3390/ijns10030051 - 17 Jul 2024
Abstract
Spinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at
[...] Read more.
Spinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S. Centers for Disease Control and Prevention (CDC) have worked towards building resources for public health laboratories in four phases since 2013. In Phase 1, CDC established a real-time PCR assay, which uses a locked nucleic acid probe to attain the needed specificity, to detect SMN1 exon 7. In Phase 2, we developed quality assurance dried blood spot materials made with transduced lymphoblast cell lines established from de-identified SMA patients, carriers, and unaffected donors. In 2021, CDC implemented Phase 3, a proficiency testing program, that now supports 115 NBS labs around the world. We are currently completing Phase 4, which includes the implementation of an external SMA quality control material program. Also, during this time, CDC has provided individual technical assistance to NBS programs and bench training to NBS scientists during our annual molecular workshop. These CDC-led activities have contributed to the rapid and full implementation of SMA screening in all 50 U.S. states as of February 2024.
Full article
(This article belongs to the Special Issue Newborn Screening for SMA—State of the Art)
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<p>Real-time PCR amplification plots using the CDC assay from SMA quality assurance materials from cell lines established from de-identified donors with (<b>A</b>) normal <span class="html-italic">SMN1</span> exon 7 sequence, (<b>B</b>) heterozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequence, and (<b>C</b>) homozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequences.</p> Full article ">Figure 1 Cont.
<p>Real-time PCR amplification plots using the CDC assay from SMA quality assurance materials from cell lines established from de-identified donors with (<b>A</b>) normal <span class="html-italic">SMN1</span> exon 7 sequence, (<b>B</b>) heterozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequence, and (<b>C</b>) homozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequences.</p> Full article ">Figure 2
<p>Number of participants in CDC’s Newborn Screening Quality Assurance Program, NSQAP, for SMA. Black bars represent U.S. participants, and grey represents the number of international participants.</p> Full article ">Figure 3
<p>SMA PT misclassifications by year.</p> Full article ">
<p>Real-time PCR amplification plots using the CDC assay from SMA quality assurance materials from cell lines established from de-identified donors with (<b>A</b>) normal <span class="html-italic">SMN1</span> exon 7 sequence, (<b>B</b>) heterozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequence, and (<b>C</b>) homozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequences.</p> Full article ">Figure 1 Cont.
<p>Real-time PCR amplification plots using the CDC assay from SMA quality assurance materials from cell lines established from de-identified donors with (<b>A</b>) normal <span class="html-italic">SMN1</span> exon 7 sequence, (<b>B</b>) heterozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequence, and (<b>C</b>) homozygous deletion of <span class="html-italic">SMN1</span> exon 7 sequences.</p> Full article ">Figure 2
<p>Number of participants in CDC’s Newborn Screening Quality Assurance Program, NSQAP, for SMA. Black bars represent U.S. participants, and grey represents the number of international participants.</p> Full article ">Figure 3
<p>SMA PT misclassifications by year.</p> Full article ">
Open AccessArticle
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia
by
Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako and Ksenija Fumić
Int. J. Neonatal Screen. 2024, 10(3), 50; https://doi.org/10.3390/ijns10030050 - 16 Jul 2024
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of SMN1 exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia.
[...] Read more.
Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of SMN1 exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia. The best treatment outcomes occur when therapy is applied before symptoms appear, making newborn screening (NBS) for SMA a crucial factor. Since SMA NBS is the first genetic test performed in our laboratory, for successful implementation of the program, we had to overcome logistical and organizational issues. Herein, we present the results of the SMA NBS during the one-year pilot project in Croatia and verify the suitability of the Targeted qPCR™ SMA assay for SMA NBS. The pilot project started on 1 March 2023 in the Department for Laboratory Diagnostics of the University Hospital Center Zagreb. A total of 32,655 newborns were tested. Five SMA patients were detected, and their diagnoses were confirmed by the multiplex ligation-dependent probe amplification (MLPA) assay. There have been no false positive or false negative results, to our knowledge so far. The incidence of SMA determined during the pilot study is consistent with the SMA incidence data from other European countries.
Full article
(This article belongs to the Special Issue Newborn Screening for SMA—State of the Art)
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<p>First-tier test (qPCR) results for SMA NBS: amplification curves for (<b>A</b>) positive SMA screening and (<b>B</b>) negative SMA screening. The pink curves represent the fluorescent signal of FAM fluorophore (<span class="html-italic">SMN1</span>), whereas the blue curves represent the fluorescent signal of HEX fluorophore (endogenous control <span class="html-italic">RPP30</span>).</p> Full article ">Figure 2
<p>Dot plot representation of the ratios of FAM to HEX end-point fluorescence for healthy newborns and SMA patients. Values of 32,650 healthy newborns and 5 SMA patients are represented with black and red dots, respectively (GraphPad Prism 8.0.1).</p> Full article ">Figure 3
<p>Workflow in SMA NBS.</p> Full article ">
<p>First-tier test (qPCR) results for SMA NBS: amplification curves for (<b>A</b>) positive SMA screening and (<b>B</b>) negative SMA screening. The pink curves represent the fluorescent signal of FAM fluorophore (<span class="html-italic">SMN1</span>), whereas the blue curves represent the fluorescent signal of HEX fluorophore (endogenous control <span class="html-italic">RPP30</span>).</p> Full article ">Figure 2
<p>Dot plot representation of the ratios of FAM to HEX end-point fluorescence for healthy newborns and SMA patients. Values of 32,650 healthy newborns and 5 SMA patients are represented with black and red dots, respectively (GraphPad Prism 8.0.1).</p> Full article ">Figure 3
<p>Workflow in SMA NBS.</p> Full article ">
Open AccessSystematic Review
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy
by
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
Int. J. Neonatal Screen. 2024, 10(3), 49; https://doi.org/10.3390/ijns10030049 - 15 Jul 2024
Abstract
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newborn
[...] Read more.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newborn screening for SMA published up to November 2023 across 17 countries to understand the methodologies used; test accuracy performance; and timing, logistics and feasibility of screening. All studies screened for the homozygous deletion of SMN1 exon 7. Most (28 studies) used RT-PCR as the initial test on dried blood spots (DBSs), while nine studies also reported second-tier tests on DBSs for screen-positive cases. Babies testing positive on DBSs were referred for confirmatory testing via a range of methods. Observed SMA birth prevalence ranged from 1 in 4000 to 1 in 20,000. Most studies reported no false-negative or false-positive cases (therefore had a sensitivity and specificity of 100%). Five studies reported either one or two false-negative cases each (total of six cases; three compound heterozygotes and three due to system errors), although some false-negatives may have been missed due to lack of follow-up of negative results. Eleven studies reported false-positive cases, some being heterozygous carriers or potentially related to heparin use. Time to testing and treatment varied between studies. In conclusion, several countries have implemented newborn screening for SMA in the last 5 years using a variety of methods. Implementation considerations include processes for timely initial and confirmatory testing, partnerships between screening and neuromuscular centres, and timely treatment initiation.
Full article
(This article belongs to the Special Issue Newborn Screening for SMA—State of the Art)
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Open AccessArticle
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling
by
Susan Howell, Shanlee M. Davis, Billie Carstens, Mary Haag, Judith L. Ross and Nicole R. Tartaglia
Int. J. Neonatal Screen. 2024, 10(3), 48; https://doi.org/10.3390/ijns10030048 - 10 Jul 2024
Abstract
Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future.
[...] Read more.
Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future. Tetrasomy SCAs are rare, manifesting more significant phenotypes compared to trisomies. Prenatal cell-free DNA (cfDNA) screening has been demonstrated to have relatively poor positive predictive values (PPV) in SCAs, directing genetic counseling discussions towards false-positive likelihood rather than thoroughly addressing all possible outcomes and phenotypes, respectively. The eXtraordinarY Babies study is a natural history study of children prenatally identified with SCAs, and it developed a longitudinal data resource and common data elements with the Newborn Screening Translational Research Network (NBSTRN). A review of cfDNA and diagnostic reports from participants identified a higher than anticipated rate of discordance. The aims of this project are to (1) compare our findings to outcomes from a regional clinical cytogenetic laboratory and (2) describe discordant outcomes from both samples. Twenty-one (10%), and seven (8.3%) cases were found to be discordant between cfDNA (result or indication reported to lab) and diagnosis for the Babies Study and regional laboratory, respectively. Discordant results represented six distinct discordance categories when comparing cfDNA to diagnostic results, with the largest groups being Trisomy cfDNA vs. Tetrasomy diagnosis (66.7% of discordance in eXtraordinarY Babies study) and Mosaicism (57.1% in regional laboratory). Traditional genetic counseling for SCA-related cfDNA results is inadequate given a high degree of discordance that jeopardizes the accuracy of the information discussed and informed decision making following prenatal genetic counseling.
Full article
(This article belongs to the Special Issue A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care)
Open AccessArticle
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand
by
Natasha Heather, Ronda F. Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton and Dianne Webster
Int. J. Neonatal Screen. 2024, 10(3), 47; https://doi.org/10.3390/ijns10030047 - 5 Jul 2024
Abstract
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A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for
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A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for target disorders and incidental findings were developed and applied to disorder lists. A gap analysis was performed between five, state-based Australian newborn screening programme disorder lists and the single national New Zealand and state-level Californian versions. Screening panels were found to be broadly similar. Gap analysis with Californian data reflected differences in jurisdictional approval (for example, haemoglobinopathies and lysosomal disorders not being recommended in Australasia). Differences amongst Australasian panels reflected varied the timeframes recommended in order to implement newly approved disorders, as well as decisions to remove previously screened disorders. A harmonised approach to disorder counting is essential to performing valid comparisons of newborn bloodspot screening panels.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00047/article_deploy/html/images/IJNS-10-00047-g001-550.jpg?1721119623)
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Open AccessArticle
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework
by
Ming-Jan Tang, Jimmy Roosblad, John Codrington, Marjolein Peters, Aartie Toekoen, Patrick F. van Rheenen and Amadu Juliana
Int. J. Neonatal Screen. 2024, 10(3), 46; https://doi.org/10.3390/ijns10030046 - 4 Jul 2024
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The early detection of sickle cell disease (SCD) is vital to reduce mortality among affected children. Suriname currently lacks a newborn screening programme (NSP) for SCD. We performed a pilot programme to evaluate the scalability of such an initiative. Dried blood spots were
[...] Read more.
The early detection of sickle cell disease (SCD) is vital to reduce mortality among affected children. Suriname currently lacks a newborn screening programme (NSP) for SCD. We performed a pilot programme to evaluate the scalability of such an initiative. Dried blood spots were collected from five birth centres and subjected to electrophoresis analysis. The programme scalability was evaluated using the non-adoption, abandonment, scale-up, spread, and sustainability framework. Challenges across six domains (illness, technology, value proposition, adopter system, organisation, and societal system), were categorised hierarchically as simple 😊, complicated 😐, or complex 😢. It has been proven that implementing programmes with mainly complicated challenges is difficult and those in mainly complex areas may be unachievable. SCD was detected in 33 of 5185 (0.64%) successfully screened newborns. Most of the domains were classified as simple or complicated. Disease detection and technology suitability for screening in Suriname were confirmed, with favourable parental acceptance. Only minor routine adjustment was required from the medical staff for programme implementation. Complex challenges included a reliance on external suppliers for technical maintenance, ensuring timely access to specialised paediatric care for affected newborns, and securing sustainable financial funding. Scaling up is challenging but feasible, particularly with a targeted focus on identified complex challenges.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00046/article_deploy/html/images/IJNS-10-00046-g001-550.jpg?1721200885)
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<p>Successive steps in the newborn screening programme pilot for sickle cell disease that have been evaluated according to the non-adoption, abandonment, scale-up, spread, and sustainability framework.</p> Full article ">Figure 2
<p>Flow diagram of the newborn screening programme pilot for sickle cell disease in Suriname.</p> Full article ">
<p>Successive steps in the newborn screening programme pilot for sickle cell disease that have been evaluated according to the non-adoption, abandonment, scale-up, spread, and sustainability framework.</p> Full article ">Figure 2
<p>Flow diagram of the newborn screening programme pilot for sickle cell disease in Suriname.</p> Full article ">
Open AccessArticle
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
by
Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen and Francis Pang
Int. J. Neonatal Screen. 2024, 10(3), 45; https://doi.org/10.3390/ijns10030045 - 26 Jun 2024
Abstract
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Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study is
[...] Read more.
Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study is to determine whether the addition of screening for MLD to the routine newborn screening program in the UK is a cost-effective use of National Health Service (NHS) resources. A health economic analysis from the perspective of the NHS and Personal Social Services was developed based on a decision-tree framework for each MLD subtype using long-term outcomes derived from a previously presented partitioned survival and Markov economic model. Modelling inputs for parameters related to epidemiology, test characteristics, screening and treatment costs were based on data from three major UK specialist MLD hospitals, structured expert opinion and published literature. Lifetime costs and quality-adjusted life years (QALYs) were discounted at 1.5% to account for time preference. Uncertainty associated with the parameter inputs was explored using sensitivity analyses. This health economic analysis demonstrates that newborn screening for MLD is a cost-effective use of NHS resources using a willingness-to-pay threshold appropriate to the severity of the disease; and supports the inclusion of MLD into the routine newborn screening programme in the UK.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00045/article_deploy/html/images/IJNS-10-00045-g001-550.jpg?1722585567)
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<p>Schematic presentation of the decision analytic model depicting the screening and no screening arms for MLD.</p> Full article ">Figure 2
<p>Model schematic of the eight-state partitioned survival and Markov framework model used to model long-term outcomes for patients with MLD in the NBS decision-tree model.</p> Full article ">Figure 3
<p>Graphical representation of the time spent in each GMFC-MLD health state for best supportive care and arsa-cel for late infantile MLD (<b>left panel</b>), pre-symptomatic early juvenile MLD (<b>middle panel</b>) and early-symptomatic early juvenile MLD (<b>right panel</b>) that were used to estimate the long-term costs and outcomes.</p> Full article ">
<p>Schematic presentation of the decision analytic model depicting the screening and no screening arms for MLD.</p> Full article ">Figure 2
<p>Model schematic of the eight-state partitioned survival and Markov framework model used to model long-term outcomes for patients with MLD in the NBS decision-tree model.</p> Full article ">Figure 3
<p>Graphical representation of the time spent in each GMFC-MLD health state for best supportive care and arsa-cel for late infantile MLD (<b>left panel</b>), pre-symptomatic early juvenile MLD (<b>middle panel</b>) and early-symptomatic early juvenile MLD (<b>right panel</b>) that were used to estimate the long-term costs and outcomes.</p> Full article ">
Open AccessReview
One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening
by
Marianna H. Raia, Molly M. Lynch, Alyson C. Ward, Jill A. Brown, Natasha F. Bonhomme and Vicki L. Hunting
Int. J. Neonatal Screen. 2024, 10(3), 44; https://doi.org/10.3390/ijns10030044 - 26 Jun 2024
Abstract
All families deserve access to readily available, accurate, and relevant information to help them navigate the newborn screening system. Current practices, limited resources, and a siloed newborn screening system create numerous challenges for both providers and families to implement educational opportunities to engage
[...] Read more.
All families deserve access to readily available, accurate, and relevant information to help them navigate the newborn screening system. Current practices, limited resources, and a siloed newborn screening system create numerous challenges for both providers and families to implement educational opportunities to engage families in ways that meet their needs with relevant and meaningful approaches. Engaging families in newborn screening, especially those from historically underserved communities, is necessary to increase knowledge and confidence which leads to overall improved outcomes for families. This article describes three strategies that the Navigate Newborn Screening Program developed, tested, and implemented in the United States, including online learning modules, a prenatal education pilot program, and social media awareness campaign, as well as the extent to which they were successful in reaching and educating families about newborn screening. Using quality improvement methods and evidence-driven approaches, each of these three strategies demonstrate promising practices for advancing awareness, knowledge, and self-efficacy for families navigating the newborn screening system—particularly families in medically underserved and underrepresented communities. A model for bidirectional engagement of families is outlined to support scaling and implementing promising educational efforts for both providers and families in the newborn screening system.
Full article
(This article belongs to the Special Issue A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care)
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Open AccessOpinion
Charting the Course: Towards a Comprehensive Newborn Screening Program in India
by
Seema Kapoor, Amit Kumar Gupta and B. K. Thelma
Int. J. Neonatal Screen. 2024, 10(3), 43; https://doi.org/10.3390/ijns10030043 - 24 Jun 2024
Abstract
Integrating health interventions in a growing economy like India, with a birth cohort of 27 million/year, one-fifth of all childbirths, and approximately one-third of neonatal deaths globally, is a challenge. While mortality statistics are vital, intact survival and early preventive healthcare, such as
[...] Read more.
Integrating health interventions in a growing economy like India, with a birth cohort of 27 million/year, one-fifth of all childbirths, and approximately one-third of neonatal deaths globally, is a challenge. While mortality statistics are vital, intact survival and early preventive healthcare, such as newborn screening (NBS), are paramount. The appalling lack of information about the precise burden of metabolic errors at the state/national level or a mandated program encouraged a feasibility study of NBS in a prospective newborn cohort recruited in Delhi State (November 2014–April 2017) using a public–private partnership mode. The major determinants for effective implementation of universal NBS at the national level and limitations encountered are discussed in this report. Data to generate the ‘core’ panel for screening, sustained training of healthcare personnel, dissemination of the power of NBS to ensure neonatal/societal health to the public, and a ‘national policy’ emerge as priorities in a developing country.
Full article
Open AccessReview
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges
by
Alex J. Ashenden, Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas and Karin S. Kassahn
Int. J. Neonatal Screen. 2024, 10(3), 42; https://doi.org/10.3390/ijns10030042 - 21 Jun 2024
Abstract
Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven
[...] Read more.
Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven the expansion of screening programs to cover additional conditions. In the current era, the breadth of screened conditions could be further expanded by integrating omic technologies such as untargeted metabolomics and genomics. Genomic screening could offer opportunities for lifelong care beyond the newborn period. For genomic newborn screening to be effective and ready for routine adoption, it must overcome barriers such as implementation cost, public acceptability, and scalability. Metabolomics approaches, on the other hand, can offer insight into disease phenotypes and could be used to identify known and novel biomarkers of disease. Given recent advances in metabolomic technologies, alongside advances in genomics including whole-genome sequencing, the combination of complementary multi-omic approaches may provide an exciting opportunity to leverage the best of both approaches and overcome their respective limitations. These techniques are described, along with the current outlook on multi-omic-based NBS research.
Full article
(This article belongs to the Special Issue A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care)
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Open AccessArticle
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms
by
Sarah Nelson Potter, Brooke Migliore, Javan Carter, Veronica R. Copeland, Edward C. Smith, Holly L. Peay and Katerina S. Kucera
Int. J. Neonatal Screen. 2024, 10(2), 41; https://doi.org/10.3390/ijns10020041 - 19 Jun 2024
Abstract
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Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms
[...] Read more.
Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms is of utmost importance. NBS for DMD involves measuring creatine kinase-MM (CK-MM) concentration—a biomarker of muscle damage—in dried blood spots. The current test is FDA-approved for samples obtained less than 72 h after birth. Separate reference ranges are needed for samples collected later than 72 h after birth. In this study, we investigated the relationship between age and CK-MM in presumed healthy newborns to inform NBS algorithm designs. In patients with DMD, CK-MM is persistently elevated in childhood and adolescence, while it may be transiently elevated for other reasons in healthy newborns. CK-MM decrease over time was demonstrated by a population sample of 20,306 presumed healthy newborns tested between 0 and 60 days of life and repeat testing of 53 newborns on two separate days. In the population sample, CK-MM concentration was highest in the second 12 h period of life (median = 318 ng/mL) when only 57.6% of newborns tested below 360 ng/mL, the lowest previously published cutoff. By 72 h of age, median CK-MM concentration was 97 ng/mL, and 96.0% of infants had concentrations below 360 ng/mL. Between 72 h and 60 days, median CK-MM concentration ranged from 32 to 37 ng/mL. Establishing age-related cutoffs is crucial for optimizing the sensitivity and specificity of NBS for DMD.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00041/article_deploy/html/images/IJNS-10-00041-g001-550.jpg?1718803701)
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<p>Age-related creatine kinase-MM cutoff levels in newborn screening pilot studies. Although the x-axis ends at 240 h (i.e., 10 days), four groups did not have upper limits on their age at collection cutoffs: NYS, Early Check/RTI, the Danish Neonatal Screening Biobank, and Guangzhou NBS Center, at ≥168, >72, ≥48, and ≥24 h, respectively. In the other studies, the time frames indicated were based on the times of sample collection. Refer to <a href="#IJNS-10-00041-t001" class="html-table">Table 1</a> for the full names of NBS pilot studies and additional information.</p> Full article ">Figure 2
<p>Total CK and CK-MM levels are correlated in patients with DMD. (<b>A</b>) Total CK and CK-MM scatter plot and correlation. (<b>B</b>) CK-MM correlation with age in years and (<b>C</b>) total CK correlation with age in years. Gray shading outside of trendlines indicates 95% confidence intervals.</p> Full article ">Figure 3
<p>CK-MM levels in paired specimens from 53 newborns. The initial specimen results (black dots) and repeat specimen results (red-filled dots) collected from the same newborn on different days are connected by solid black lines. Example cutoffs (horizontal dashed lines) from a previous study [<a href="#B16-IJNS-10-00041" class="html-bibr">16</a>] are shown for reference.</p> Full article ">Figure 4
<p>Log10 CK-MM concentration by hour/day range. The box and whisker plots for each age range within (white fill) and outside (red fill) the kit specifications represent the inner quartile ranges (i.e., 50% of the data distributions in each group) with the median indicated by a horizontal line. The whiskers represent the upper and lower quartiles, and the notches show differences in the medians. The midpoint between 0 and 29.2 ng/mL (14.6 ng/mL) was used for values below the lower limit of the reportable range of the assay (<29.2 ng/mL). Values above the upper limit of the reportable range (>8000 ng/mL) are included but not considered quantitative.</p> Full article ">
<p>Age-related creatine kinase-MM cutoff levels in newborn screening pilot studies. Although the x-axis ends at 240 h (i.e., 10 days), four groups did not have upper limits on their age at collection cutoffs: NYS, Early Check/RTI, the Danish Neonatal Screening Biobank, and Guangzhou NBS Center, at ≥168, >72, ≥48, and ≥24 h, respectively. In the other studies, the time frames indicated were based on the times of sample collection. Refer to <a href="#IJNS-10-00041-t001" class="html-table">Table 1</a> for the full names of NBS pilot studies and additional information.</p> Full article ">Figure 2
<p>Total CK and CK-MM levels are correlated in patients with DMD. (<b>A</b>) Total CK and CK-MM scatter plot and correlation. (<b>B</b>) CK-MM correlation with age in years and (<b>C</b>) total CK correlation with age in years. Gray shading outside of trendlines indicates 95% confidence intervals.</p> Full article ">Figure 3
<p>CK-MM levels in paired specimens from 53 newborns. The initial specimen results (black dots) and repeat specimen results (red-filled dots) collected from the same newborn on different days are connected by solid black lines. Example cutoffs (horizontal dashed lines) from a previous study [<a href="#B16-IJNS-10-00041" class="html-bibr">16</a>] are shown for reference.</p> Full article ">Figure 4
<p>Log10 CK-MM concentration by hour/day range. The box and whisker plots for each age range within (white fill) and outside (red fill) the kit specifications represent the inner quartile ranges (i.e., 50% of the data distributions in each group) with the median indicated by a horizontal line. The whiskers represent the upper and lower quartiles, and the notches show differences in the medians. The midpoint between 0 and 29.2 ng/mL (14.6 ng/mL) was used for values below the lower limit of the reportable range of the assay (<29.2 ng/mL). Values above the upper limit of the reportable range (>8000 ng/mL) are included but not considered quantitative.</p> Full article ">
Open AccessArticle
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
by
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R. Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B. Wortmann, Vassiliki Konstantopoulou and Martina Huemer
Int. J. Neonatal Screen. 2024, 10(2), 40; https://doi.org/10.3390/ijns10020040 - 18 Jun 2024
Abstract
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Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further
[...] Read more.
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00040/article_deploy/html/images/IJNS-10-00040-g001-550.jpg?1718681368)
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Open AccessEditorial
ISNS Celebrates International Neonatal Screening Day 2024 with a New IJNS CiteScore, a Global Report and a WHO Resolution
by
Peter C. J. I. Schielen
Int. J. Neonatal Screen. 2024, 10(2), 39; https://doi.org/10.3390/ijns10020039 - 13 Jun 2024
Abstract
The International Journal of Neonatal Screening (IJNS), founded in 2015 by the International Society for Neonatal Screening (ISNS), has quickly become the most important journal for scientific papers on neonatal screening, as indicated by an impressive impact factor of 3 [...]
Full article
Open AccessEditor’s ChoiceReview
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
by
Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
Int. J. Neonatal Screen. 2024, 10(2), 38; https://doi.org/10.3390/ijns10020038 - 23 May 2024
Abstract
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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote
[...] Read more.
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00038/article_deploy/html/images/IJNS-10-00038-g001-550.jpg?1717474805)
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<p>Map showing countries considered to be in North America. (Note: This portion of the report only addresses the United States and Canada).</p> Full article ">Figure 2
<p>Map showing Canadian provinces and territories. Jurisdictions of the same color utilize the same screening laboratory (laboratory location indicated by a star).</p> Full article ">Figure 3
<p>Map showing extent of Asia–Pacific region.</p> Full article ">Figure 4
<p>Map showing the European region.</p> Full article ">Figure 5
<p>Map of Latin America (<bold>a</bold>) and Caribbean region (<bold>b</bold>).</p> Full article ">Figure 6
<p>Map showing the 19 countries included in the Middle East–North Africa (MENA) region.</p> Full article ">Figure 7
<p>Map showing the countries of sub-Saharan Africa.</p> Full article ">Figure 8
<p>(<bold>a</bold>) Cartogram showing conventional view of world land masses (for reference), (<bold>b</bold>) cartogram showing proportional land masses based on current populations, (<bold>c</bold>) cartogram showing proportional land masses based on current births showing influence of sub-Saharan Africa (green). [Note: All maps are available online at: <uri>https://worldmapper.org/</uri> (accessed on 10 January 2024)].</p> Full article ">
<p>Map showing countries considered to be in North America. (Note: This portion of the report only addresses the United States and Canada).</p> Full article ">Figure 2
<p>Map showing Canadian provinces and territories. Jurisdictions of the same color utilize the same screening laboratory (laboratory location indicated by a star).</p> Full article ">Figure 3
<p>Map showing extent of Asia–Pacific region.</p> Full article ">Figure 4
<p>Map showing the European region.</p> Full article ">Figure 5
<p>Map of Latin America (<bold>a</bold>) and Caribbean region (<bold>b</bold>).</p> Full article ">Figure 6
<p>Map showing the 19 countries included in the Middle East–North Africa (MENA) region.</p> Full article ">Figure 7
<p>Map showing the countries of sub-Saharan Africa.</p> Full article ">Figure 8
<p>(<bold>a</bold>) Cartogram showing conventional view of world land masses (for reference), (<bold>b</bold>) cartogram showing proportional land masses based on current populations, (<bold>c</bold>) cartogram showing proportional land masses based on current births showing influence of sub-Saharan Africa (green). [Note: All maps are available online at: <uri>https://worldmapper.org/</uri> (accessed on 10 January 2024)].</p> Full article ">
Open AccessArticle
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening
by
Yvonne Kellar-Guenther, Lauren Barringer, Katherine Raboin, Ginger Nichols, Kathy Y. F. Chou, Kathy Nguyen, Amy R. Burke, Sandy Fawbush, Joyal B. Meyer, Morna Dorsey, Amy Brower, Kee Chan, Mei Lietsch, Jennifer Taylor, Michele Caggana and Marci K. Sontag
Int. J. Neonatal Screen. 2024, 10(2), 37; https://doi.org/10.3390/ijns10020037 - 15 May 2024
Abstract
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested
[...] Read more.
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions.
Full article
(This article belongs to the Special Issue A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care)
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Open AccessArticle
Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec
by
Van Hoa Ho, Yves Giguère and Daniel Reinharz
Int. J. Neonatal Screen. 2024, 10(2), 36; https://doi.org/10.3390/ijns10020036 - 13 May 2024
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Health systems in high-resource countries recognize the importance of making decisions about the services offered to the population based on scientific evidence. Producing this evidence is especially challenging in areas such as newborn care where the frequency of conditions is rare. However, methodological
[...] Read more.
Health systems in high-resource countries recognize the importance of making decisions about the services offered to the population based on scientific evidence. Producing this evidence is especially challenging in areas such as newborn care where the frequency of conditions is rare. However, methodological advances in the field of economic evaluation could change how this evidence is used in decision-making. This study aimed to investigate how decision-makers in the Canadian province of Quebec perceive the value of recent advances in economic evaluations for perinatal studies and how these advances might affect the offer of neonatal interventions in the public health care system. A qualitative study was conducted. A total of 10 policymakers were interviewed. A neo-institutional conceptual framework highlighting three dimensions, structure, power, and interpretive schemes, was used for data collection and analyses. Structural factors, interpretative schemes, and power management between the groups concerned concur to ensure that providing services to newborns is not hindered by the difficulty of producing evidence. They also ensure that the decisions regarding which disease to screen for take into consideration the specificity of neonatology, in particular, the social value given to children not captured by available evidence.
Full article
![](https://pub.mdpi-res.com/IJNS/IJNS-10-00036/article_deploy/html/images/IJNS-10-00036-g001-550.jpg?1715844522)
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Psychosocial Burden of Positive Newborn Screening
Guest Editors: Jane Chudleigh, Leah HechtDeadline: 31 October 2024
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Newborn Screening for Congenital Hypothyroidism
Guest Editors: Ernest M. Post, Natasha Heather, Ralph FingerhutDeadline: 31 December 2024
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Newborn Screening in Japan
Collection Editors: Toshihiro Tajima, Seiji Yamaguchi