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Int. J. Neonatal Screen., Volume 9, Issue 1 (March 2023) – 15 articles

Cover Story (view full-size image): Maternal vitamin B12 deficiency can cause developmental delay in breastfed infants. Early detection using newborn screening has improved by introducing first-tier markers from both B12-dependent pathways followed by second-tier methylmalonic acid and homocysteine analyses. Early diagnosis prevents symptoms of B12 deficiency, treatment is inexpensive and efficient, and maternal health and future offspring are added benefits. Nevertheless, despite the implementation of systematic algorithms, specificity and sensitivity remain suboptimal for identifying neonatal B12 deficiency or newborns prone to B12 deficiency later in infancy. Screening of maternal B12 deficiency in pregnancy is suggested as a complementary approach to newborn screening. View this paper
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14 pages, 295 KiB  
Review
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
Int. J. Neonatal Screen. 2023, 9(1), 15; https://doi.org/10.3390/ijns9010015 - 17 Mar 2023
Cited by 10 | Viewed by 3951
Abstract
In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of public [...] Read more.
In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of public health in developed countries. Technological advances allowed for the addition of new disorders into routine programmes and thereby resulted in a paradigm shift. Today, technological advances in immunological methods, tandem mass spectrometry, PCR techniques, DNA sequencing for mutational variant analysis, ultra-high performance liquid chromatography (UPLC), iso-electric focusing, and digital microfluidics are employed in the NBS laboratory to detect more than 60 disorders. In this review, we will provide the current state of methodological advances that have been introduced into NBS. Particularly, ‘second-tier’ methods have significantly improved both the specificity and sensitivity of testing. We will also present how proteomic and metabolomic techniques can potentially improve screening strategies to reduce the number of false-positive results and improve the prediction of pathogenicity. Additionally, we discuss the application of complex, multiparameter statistical procedures that use large datasets and statistical algorithms to improve the predictive outcomes of tests. Future developments, utilizing genomic techniques, are also likely to play an increasingly important role, possibly combined with artificial intelligence (AI)-driven software. We will consider the balance required to harness the potential of these new advances whilst maintaining the benefits and reducing the risks for harm associated with all screening. Full article
10 pages, 638 KiB  
Article
Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
by Shivon Belle Jarvis, Edda Hadeed, Ketty Lee, Marie-Dominique Hardy-Dessources, Jennifer M. Knight-Madden and Claudine Richardson
Int. J. Neonatal Screen. 2023, 9(1), 14; https://doi.org/10.3390/ijns9010014 - 01 Mar 2023
Viewed by 1832
Abstract
The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainability challenges. Early intervention and implementation of [...] Read more.
The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainability challenges. Early intervention and implementation of preventative measures post-NBS result in significant improvements in morbidity, quality of life, and survival. This audit reviewed the pilot SCD NBS Program in Antigua and Barbuda from September 2020 to December 2021. A conclusive result was received by 99% of babies eligible for screening, 84.3% of which were HbFA, whilst 9.6% and 4.6% were HbFAS and HbFAC, respectively. This was comparable to other Caribbean countries. Sickle Cell Disease was noted in 0.5% of babies screened, which translates to 1 in 222 live births. Eighty-two percent of mothers were aware of their sickle cell status, compared to 3% of fathers. The importance of instituting a quality improvement team post the initiation of a screening program and the need for a robust public education program have been demonstrated by this audit. Full article
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8 pages, 897 KiB  
Article
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays
by Paul Dantonio, Norma P. Tavakoli, Brooke Migliore, Elizabeth McCown, Timothy Lim, Sunju Park, Michele Caggana, Katerina S. Kucera, Han Phan, Natalie Street, Konstantinos Petritis and Robert F. Vogt
Int. J. Neonatal Screen. 2023, 9(1), 13; https://doi.org/10.3390/ijns9010013 - 28 Feb 2023
Cited by 1 | Viewed by 1822
Abstract
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute [...] Read more.
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute (RTI) International. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) produced a set of seven prototype dried blood spot (DBS) reference materials spiked with varying levels of creatine kinase MM isoform (CK-MM). These DBS were evaluated over a 3-week period by CDC, NYS, and RTI, all using the same CK-MM isoform-specific fluoroimmunoassay. Results from each laboratory were highly correlated with the relative proportion of CK-MM added to each of the six spiked pools. Based on reference ranges established by NYS and RTI for their pilot studies, these contrived DBS collectively spanned the CK-MM ranges found in typical newborns and the elevated ranges associated with DMD. This set allows quality assessment over the wide range of fluctuating CK-MM levels in typical and DMD-affected newborns. Full article
(This article belongs to the Special Issue Newborn Screening for Duchenne Muscular Dystrophy)
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4 pages, 195 KiB  
Opinion
Implications of Genomic Newborn Screening for Infant Mortality
by Monica H. Wojcik and Nina B. Gold
Int. J. Neonatal Screen. 2023, 9(1), 12; https://doi.org/10.3390/ijns9010012 - 28 Feb 2023
Cited by 1 | Viewed by 1746
Abstract
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS). Genomic sequencing may complement current NBS laboratory analyses or may be used as a first-tier screening tool to identify disorders not [...] Read more.
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS). Genomic sequencing may complement current NBS laboratory analyses or may be used as a first-tier screening tool to identify disorders not detected by current approaches. As a large proportion of infant deaths occur in children with an underlying genetic disorder, earlier diagnosis of these disorders may improve neonatal and infant mortality rates. This lends an additional layer of ethical consideration regarding genomic newborn screening. We review the current understanding of genomic contributions to infant mortality and explore the potential implications of expanded access to genomic screening for infant mortality rates. Full article
(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)
16 pages, 4254 KiB  
Article
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
by M. Christine Dorley, George J. Dizikes, Charles Austin Pickens, Carla Cuthbert, Khaja Basheeruddin, Fizza Gulamali-Majid, Paul Hetterich, Amy Hietala, Ashley Kelsey, Tracy Klug, Barbara Lesko, Michelle Mills, Shawn Moloney, Partha Neogi, Joseph Orsini, Douglas Singer and Konstantinos Petritis
Int. J. Neonatal Screen. 2023, 9(1), 11; https://doi.org/10.3390/ijns9010011 - 27 Feb 2023
Cited by 1 | Viewed by 1726
Abstract
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower [...] Read more.
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower positive predictive values. Harmonization has been proposed as a way to minimize false-negative and false-positive results and correct for method differences, so we harmonized enzyme activities for Pompe and MPS I across laboratories and testing methods (Tandem Mass Spectrometry (MS/MS) or Digital Microfluidics (DMF)). Participating states analyzed proofof- concept calibrators, blanks, and contrived specimens and reported enzyme activities, cutoffs, and other testing parameters to Tennessee. Regression and multiples of the median were used to harmonize the data. We observed varied cutoffs and results. Six of seven MS/MS labs reported enzyme activities for one specimen for MPS I marginally above their respective cutoffs with results classified as negative, whereas all DMF labs reported this specimen’s enzyme activity below their respective cutoffs with results classified as positive. Reasonable agreement in enzyme activities and cutoffs was achieved with harmonization; however, harmonization does not change how a value would be reported as this is dependent on the placement of cutoffs. Full article
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7 pages, 232 KiB  
Article
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency
by Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy and Prakash Sadashiv Gambhir
Int. J. Neonatal Screen. 2023, 9(1), 9; https://doi.org/10.3390/ijns9010009 - 21 Feb 2023
Cited by 1 | Viewed by 2757
Abstract
Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone (17-OHP). The second-tier test for confirmation of diagnosis is carried out on [...] Read more.
Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone (17-OHP). The second-tier test for confirmation of diagnosis is carried out on recall venous blood sample from screen positives measuring 17-OHP, or other metabolites of steroid metabolism by liquid chromatography–tandem mass spectroscopy. However, as steroid metabolism is dynamic, it can affect these parameters even in the recall sample of a stressed neonate. Moreover, there is some time delay in recalling the neonate for repeat testing. Reflex genetic analysis of blood spot from the initial Guthrie cards of screen positive neonates, if used for confirmatory testing, can avoid this time delay as well as the effect of stress on steroid metabolism. In this study, we used Sanger sequencing and MLPA in a reflex manner for molecular genetic analysis to confirm CYP21A2-mediated CAH. Out of 220,000 newborns screened, 97 were positive on the initial biochemical screen, of which 54 were confirmed true positives with genetic reflex testing, giving incidence of CAH as 1:4074. Point mutations were more common than deletions, indicating that Sanger sequencing should be used ahead of MLPA for molecular diagnosis in India. Amongst the variants detected, the most common was I2G-Splice variant (44.5%), followed by c.955C>T (p.Gln319Ter) (21.2%); Del 8 bp and c.-113G>A were detected with frequencies of 20.3% and 20%, respectively. In conclusion, reflex genetic testing is an effective strategy for identifying true positives in CAH screening in neonates. This will obviate need for recall samples and also aid effective counselling and timely prenatal diagnosis in the future. In Indian newborns, as point mutations are more common than large deletions, Sanger sequencing should be the initial method of choice for genotyping, ahead of MLPA. Full article
6 pages, 421 KiB  
Article
Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor
by Payal Patel, Jana Yeley, Cynthia Brown, Melissa Wesson, Barbara G. Lesko, James E. Slaven, James F. Chmiel, Raksha Jain and Don B. Sanders
Int. J. Neonatal Screen. 2023, 9(1), 10; https://doi.org/10.3390/ijns9010010 - 21 Feb 2023
Cited by 4 | Viewed by 2079
Abstract
Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to the CF transmembrane conductance regulator (CFTR) [...] Read more.
Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to the CF transmembrane conductance regulator (CFTR) modulator, elexacaftor–tezacaftor–ivacaftor (ETI), in utero. However, IRT values in infants born to mothers taking ETI have not been systematically assessed. We hypothesized that ETI-exposed infants have lower IRT values than newborns with CF, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID), or CF carriers. IRT values were collected from infants born in Indiana between 1 January 2020, and 2 June 2022, with ≥1 CFTR mutation. IRT values were compared to infants born to mothers with CF taking ETI followed at our institution. Compared to infants identified with CF (n = 51), CRMS/CFSPID (n = 21), and CF carriers (n = 489), ETI-exposed infants (n = 19) had lower IRT values (p < 0.001). Infants with normal NBS results for CF had similar median (interquartile range) IRT values, 22.5 (16.8, 30.6) ng/mL, as ETI-exposed infants, 18.9 (15.2, 26.5). IRT values from ETI-exposed infants were lower than for infants with abnormal NBS for CF. We recommend that NBS programs consider performing CFTR variant analysis for all ETI-exposed infants. Full article
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1 pages, 186 KiB  
Reply
Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20”
by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys and Alberto Burlina
Int. J. Neonatal Screen. 2023, 9(1), 8; https://doi.org/10.3390/ijns9010008 - 16 Feb 2023
Viewed by 949
Abstract
The commentary provided by Maase et al. [...] Full article
2 pages, 171 KiB  
Comment
Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20
by Rose Maase, Marleen E. Jansen, Marie-Louise Heijnen and Eugenie Dekkers
Int. J. Neonatal Screen. 2023, 9(1), 7; https://doi.org/10.3390/ijns9010007 - 15 Feb 2023
Cited by 1 | Viewed by 1070
Abstract
With innovations in both the screening methodologies and treatment of diseases, newborn screening (NBS) programmes are confronted with an increasing number of candidate diseases [...] Full article
14 pages, 1426 KiB  
Review
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
by Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain and David Cheillan
Int. J. Neonatal Screen. 2023, 9(1), 6; https://doi.org/10.3390/ijns9010006 - 01 Feb 2023
Cited by 4 | Viewed by 2711
Abstract
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide [...] Read more.
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition. Full article
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2 pages, 265 KiB  
Editorial
Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022
by International Journal of Neonatal Screening Editorial Office
Int. J. Neonatal Screen. 2023, 9(1), 5; https://doi.org/10.3390/ijns9010005 - 18 Jan 2023
Viewed by 1037
Abstract
High-quality academic publishing is built on rigorous peer review [...] Full article
6 pages, 369 KiB  
Case Report
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
by Suzanne Marie G. Carmona, Mary Ann R. Abacan and Maria Melanie Liberty B. Alcausin
Int. J. Neonatal Screen. 2023, 9(1), 4; https://doi.org/10.3390/ijns9010004 - 11 Jan 2023
Viewed by 1641
Abstract
Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consultation [...] Read more.
Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consultation for recurrent neonatal deaths. The neonates, born two years apart, were apparently well at birth but had a fair cry and no spontaneous eye opening within the first 24 h of life and died before the 72nd hour of life. Newborn screening of both babies revealed elevated long chain acylcarnitines and hypocarnitinemia suggestive of a FAOD. However, due to their early demise, no confirmatory tests were done. Parental carrier testing was performed, revealing both parents to be heterozygous carriers of a pathogenic variant, c.199 10T>G (intronic), in the SLC25A20 gene associated with autosomal recessive CACTD. This is the first reported case of CACTD in the Filipino population. Full article
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11 pages, 647 KiB  
Article
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
by Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves and Rolf D. Pettersen
Int. J. Neonatal Screen. 2023, 9(1), 3; https://doi.org/10.3390/ijns9010003 - 05 Jan 2023
Cited by 1 | Viewed by 3687
Abstract
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This [...] Read more.
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This is a retrospective study of newborns reported from NBS during 2012–2021 with confirmed B12 deficiency. DBSs were retrieved from the NBS biobank for second-tier MMA and tHcy analysis. Thirty-one newborns were diagnosed with B12 deficiency out of 552970 screened. Twenty-five were ascertained from sixty-one false positive (FP) cases of methylmalonic acidemia and propionic acidemia (PA), and six infants screened positive for other NBS metabolic diseases with propionylcarnitine (C3) in the normal range. In the original DBS, 7/23 (30%) and 12/23 (52%) of B12-deficient newborns with FP methylmalonic acidemia/PA had MMA and tHcy > 99th percentile. B12 deficiency was a common differential diagnosis of screening positive for methylmalonic and PA. C3 failed to identify a subset of newborns with B12 deficiency. Second-tier MMA and tHcy analyses in the DBS showed suboptimal sensitivity for identifying infants with B12 deficiency. The shortcomings of NBS should be acknowledged when considering B12 deficiency as a primary target of NBS panels. Full article
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9 pages, 998 KiB  
Article
Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care
by Ebner Bon G. Maceda, Michelle E. Abadingo, Karen Asuncion R. Panol, Frederick David E. Beltran, Ivy Rose C. Valdez-Acosta, Grandelee D. Taquiqui, Sharon B. Gawigawen, Maria Victoria L. Macalino, Laura Maria Soledad M. Aguirre-Aguinaldo, Marive A. Flores-Declaro, Karen June V. Ventilacion, Ma. Rita Anna Salve R. Boligao, Nancy G. Honor, Mirasol S. Ellong, Rona D. Ocho-Ortencio, Genelynne J. Beley, Maria Christina N. Bondoc-Eran, Bradford L. Therrell, Jr. and Carmencita D. Padilla
Int. J. Neonatal Screen. 2023, 9(1), 2; https://doi.org/10.3390/ijns9010002 - 29 Dec 2022
Cited by 2 | Viewed by 3398
Abstract
The COVID-19 pandemic has challenged healthcare systems worldwide. In the Philippines, long-term care for patients with conditions identified through newborn screening (NBS) is coordinated through Newborn Screening Continuity Clinics (NBSCCs). These clinics are integral to achieving optimal outcomes by providing follow-up oversight and [...] Read more.
The COVID-19 pandemic has challenged healthcare systems worldwide. In the Philippines, long-term care for patients with conditions identified through newborn screening (NBS) is coordinated through Newborn Screening Continuity Clinics (NBSCCs). These clinics are integral to achieving optimal outcomes by providing follow-up oversight and assistance for individuals identified through screening. Continuity of NBSCC care for NBS during the COVID-19 pandemic was both challenging and necessary and was accomplished through innovative strategies of dedicated personnel. Following the discontinuation of the community quarantine, a situation assessment survey was completed by each NBSCC to better understand the challenges encountered and their effect on patient care. Performance data from each NBSCC were reviewed both before and after an extended community quarantine (2018–2021) to evaluate the impact of NBSCC disaster contingency plans in overcoming the resultant challenges (transportation, supply chain, etc.). Thematic analysis of the survey showed three primary challenges: Operations, communications, and safety. In 2018 and 2019, successful patient contacts were 70.6% and 70.2%, respectively. During the pandemic, successful contacts were 74.9% in 2020 and 76.8% in 2021, demonstrating that the contact approaches taken by the NBSCCs were sufficient to maintain (and even improve) patient contacts. The number of unresponsive patients decreased during the pandemic likely due to decreased mobility and improved follow-up actions from the NBSCCs. Full article
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3 pages, 447 KiB  
Obituary
Remembering the Legacy of Judi Tuerck
by Amy Morris, Cheryl Hermerath, Jelili Ojodu and Neil Buist
Int. J. Neonatal Screen. 2023, 9(1), 1; https://doi.org/10.3390/ijns9010001 - 22 Dec 2022
Viewed by 1118
Abstract
Judith “Judi” Tuerck, RN, MS, one of the true pioneers in the development of newborn screening (NBS), passed away on Saturday, 18 June 2022 (Figure 1) [...] Full article
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