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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 9, Issue 3

September 2023 - 19 articles

Cover Story: Although many countries have relaxed pandemic-related restrictions for COVID-19, the need remains for surveillance techniques that can monitor known and covert infections in vulnerable populations for this and future emerging infectious diseases. Newborn screening of residual bloodspots provides the means to identify maternal infections of concern to public health through the detection of antibodies passed to the fetus before birth to estimate prenatal infections among women who may not have access to molecular or antigen testing or who are asymptomatic. SARS-CoV-2 antibodies persist for over 11 months after maternal infection in newborn bloodspots, expanding the value of specimens collected routinely by newborn screening programs. View this paper
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Articles (19)

  • Article
  • Open Access
4 Citations
3,456 Views
14 Pages
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Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

  • David J. McBride,
  • Claire Fielding,
  • Taksina Newington,
  • Alexandra Vatsiou,
  • Harry Fischl,
  • Maya Bajracharya,
  • Vicki S. Thomson,
  • Louise J. Fraser,
  • Pauline A. Fujita and
  • Jennifer Becq
  • + 4 authors
Int. J. Neonatal Screen.2023, 9(3), 52;https://doi.org/10.3390/ijns9030052

21 September 2023

The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5–6 mm) can be taken from DBS specimens to use as...

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  • Article
  • Open Access
4 Citations
2,452 Views
12 Pages
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Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening

  • Hemmo A. F. Yska,
  • Lidewij Henneman,
  • Rinse W. Barendsen,
  • Marc Engelen and
  • Stephan Kemp
Int. J. Neonatal Screen.2023, 9(3), 51;https://doi.org/10.3390/ijns9030051

2 September 2023

Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study investigates t...

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  • Article
  • Open Access
1 Citations
2,605 Views
10 Pages
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Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

  • Bonnie McCann-Crosby,
  • Mark C. Liang,
  • Mitchell E. Geffner,
  • Christina M. Koppin,
  • Nicole R. Fraga,
  • V. Reid Sutton,
  • Lefkothea P. Karaviti,
  • Gagandeep Bhullar and
  • Mimi S. Kim
Int. J. Neonatal Screen.2023, 9(3), 50;https://doi.org/10.3390/ijns9030050

1 September 2023

Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies—we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected...

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  • Article
  • Open Access
5 Citations
2,276 Views
17 Pages
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Parental Perspectives on Communication from Health Care Providers following a Newborn Diagnosis of Congenital Cytomegalovirus Infection: A Secondary Analysis of a Qualitative Study

  • Tatiana M. Lanzieri,
  • Mary Ann K. Hall,
  • Ashrita Rau,
  • Holly McBride,
  • Danie Watson,
  • Carol Rheaume and
  • Gail Demmler-Harrison
Int. J. Neonatal Screen.2023, 9(3), 49;https://doi.org/10.3390/ijns9030049

27 August 2023

The study objective was to identify communication messages that parents of children diagnosed with congenital cytomegalovirus (cCMV) infection reported as essential and helpful. We performed a secondary analysis of focus groups and interviews conduct...

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  • Article
  • Open Access
5 Citations
3,084 Views
9 Pages
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New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

  • Galina V. Baydakova,
  • Polina G. Tsygankova,
  • Natalia L. Pechatnikova,
  • Olga A. Bazhanova,
  • Yana D. Nazarenko and
  • Ekaterina Y. Zakharova
Int. J. Neonatal Screen.2023, 9(3), 48;https://doi.org/10.3390/ijns9030048

25 August 2023

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnit...

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  • Article
  • Open Access
2 Citations
2,694 Views
10 Pages
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Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences

  • Andrea Xue,
  • István Lénárt,
  • Judit Kincs,
  • Hajnalka Szabó,
  • Andrea Párniczky,
  • István Balogh,
  • Anna Deák,
  • Péter Béla Monostori,
  • Krisztina Hegedűs and
  • Attila J. Szabó
  • + 1 author
Int. J. Neonatal Screen.2023, 9(3), 47;https://doi.org/10.3390/ijns9030047

23 August 2023

The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated prote...

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  • Article
  • Open Access
10 Citations
2,915 Views
8 Pages
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The Use of Saliva Samples to Test for Congenital Cytomegalovirus Infection in Newborns: Examination of False-Positive Samples Associated with Donor Milk Use

  • Whitney Wunderlich,
  • Abbey C. Sidebottom,
  • Anna K. Schulte,
  • Jessica Taghon,
  • Sheila Dollard and
  • Nelmary Hernandez-Alvarado
Int. J. Neonatal Screen.2023, 9(3), 46;https://doi.org/10.3390/ijns9030046

17 August 2023

A universal screening research study was conducted in six hospitals to identify the clinical sensitivity of polymerase chain reaction (PCR) testing on newborn dried blood spots (DBSs) versus saliva specimens for the diagnosis of congenital cytomegalo...

Full Article
  • Article
  • Open Access
4 Citations
2,928 Views
15 Pages
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Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

  • Kiran Moti Belaramani,
  • Cheuk Wing Fung,
  • Anne Mei Kwun Kwok,
  • Shing Yan Robert Lee,
  • Eric Kin Cheong Yau,
  • Ho Ming Luk,
  • Chloe Miu Mak,
  • Matthew Chun Wing Yeung and
  • Olivia Miu Yung Ngan
Int. J. Neonatal Screen.2023, 9(3), 45;https://doi.org/10.3390/ijns9030045

11 August 2023

Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as q...

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  • Article
  • Open Access
10 Citations
2,894 Views
11 Pages
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Utility of Dried Blood Spots for the Diagnosis of Congenital Cytomegaloviruses within the First 21 Days of Life in a Single Center

  • Ana Del Valle Penella,
  • Jerry Miller,
  • Ryan Rochat and
  • Gail Demmler-Harrison
Int. J. Neonatal Screen.2023, 9(3), 44;https://doi.org/10.3390/ijns9030044

4 August 2023

In this retrospective study, we aimed to evaluate the performance of dried-blood-spot (DBS) testing as a diagnostic method for the congenital cytomegalovirus (cCMV). We reviewed the medical records and DBS test results of 89 patients who had also und...

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  • Article
  • Open Access
2,561 Views
12 Pages
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Shadow of a Pandemic: Persistence of Prenatal SARS-CoV-2 Antibodies in Newborn Blood Spots

  • Stanley Sciortino,
  • Steve Graham,
  • Toki Fillman,
  • Hari Kandasamy,
  • Robin Cooley,
  • Carl Hanson,
  • Valorie Eckert,
  • Hao Tang,
  • Juan Yang and
  • David Seftel
  • + 2 authors
Int. J. Neonatal Screen.2023, 9(3), 43;https://doi.org/10.3390/ijns9030043

2 August 2023

To investigate COVID-19 surveillance among pregnant women, the California Genetic Disease Screening Program conducted a screening performance and seroprevalence evaluation of maternal SARS-CoV-2 antibodies detected in banked newborn dried blood spots...

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Int. J. Neonatal Screen. - ISSN 2409-515X
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