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  • 1
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    Table2.XLSX
    Frontiers Media SA ; 2022
    In:  Frontiers in Genetics Vol. 13 ( 2022-7-22)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 13 ( 2022-7-22)
    Abstract: Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2022.867337
    DOI: 10.3389/fgene.2022.867337.s001
    DOI: 10.3389/fgene.2022.867337.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2606823-0
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  • 2
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    A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy
    Wiley ; 2019
    In:  American Journal of Medical Genetics Part A Vol. 179, No. 7 ( 2019-07), p. 1205-1213
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 179, No. 7 ( 2019-07), p. 1205-1213
    Abstract: Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0‐LPC) screening results of 67,836 infants and confirmatory testing ( ABCD1 gene and serum VLCFA analysis) for screen positives were obtained. Fourteen infants (nine males, five females) screened positive for X‐ALD and all were subsequently confirmed to have X‐ALD, with zero false positives. The birth prevalence of X‐ALD in screened infants was 1 in 4,845 and 1 in 3,878 males, more than five times previous reported incidences. Pedigrees of affected infants were analyzed, and 17 male (mean age of 17) and 24 female relatives were subsequently diagnosed with X‐ALD. Phenotypes of these family members included self‐reported mild neuropathy symptoms in two males and seven females, and childhood cerebral disease (ccALD) and adrenal insufficiency in one male. We observed fewer cases of ccALD and adrenal insufficiency than expected in male family members (5.9% of males for both) compared to previous observations. Together, these findings suggest that the spectrum of X‐ALD may be broader than previously described and that milder cases may previously have been underrepresented. Other challenges included a high frequency of variants of uncertain significance in ABCD1 and an inability to predict phenotypic severity. We posit that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population‐based screening for X‐ALD.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v179.7
    DOI: 10.1002/ajmg.a.61171
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 3
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    Comparison of Newborn Screening Protocols for Congenital Adrenal Hyperplasia in Preterm Infants
    Elsevier BV ; 2014
    In:  The Journal of Pediatrics Vol. 164, No. 5 ( 2014-05), p. 1136-1140
    Details
    In: The Journal of Pediatrics, Elsevier BV, Vol. 164, No. 5 ( 2014-05), p. 1136-1140
    Type of Medium: Online Resource
    ISSN: 0022-3476
    URL: Article
    DOI: 10.1016/j.jpeds.2014.01.038
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2014
    detail.hit.zdb_id: 2005245-5
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  • 4
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    Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia
    American Academy of Pediatrics (AAP) ; 2012
    In:  Pediatrics Vol. 130, No. 5 ( 2012-11-01), p. e1261-e1268
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 130, No. 5 ( 2012-11-01), p. e1261-e1268
    Abstract: Newborn screening (NBS) for the classic forms of congenital adrenal hyperplasia (CAH) is mandated in all states in the United States. Compared with other NBS disorders, the false-positive rate (FPR) of CAH screening remains high and has not been significantly improved by adjusting 17α-hydroxyprogesterone cutoff values for birth weight and/or gestational age. Minnesota was the first state to initiate, and only 1 of 4 states currently performing, second-tier steroid profiling for CAH. False-negative rates (FNRs) for CAH are not well known. METHODS: This is a population-based study of all Minnesota infants (769 834) born 1999–2009, grouped by screening protocol (one-tier with repeat screen, January 1999 to May 2004; two-tier with second-tier steroid profiling, June 2004 to December 2009). FPR, FNR, and positive predictive value (PPV) were calculated per infant, rather than per sample, and compared between protocols. RESULTS: Overall, 15 false-negatives (4 salt-wasting, 11 simple-virilizing) and 45 true-positives were identified from 1999 to 2009. With two-tier screening, FNR was 32%, FPR increased to 0.065%, and PPV decreased to 8%, but these changes were not statistically significant. Second-tier steroid profiling obviated repeat screens of borderline results (355 per year average). CONCLUSIONS: In comparing the 2 screening protocols, the FPR of CAH NBS remains high, the PPV remains low, and false-negatives occur more frequently than has been reported. Physicians should be cautioned that a negative NBS does not necessarily rule out classic CAH; therefore, any patient for whom there is clinical concern for CAH should receive immediate diagnostic testing.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2012-1219
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2012
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  • 5
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    Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020
    MDPI AG ; 2023
    In:  International Journal of Neonatal Screening Vol. 9, No. 2 ( 2023-04-13), p. 23-
    Details
    In: International Journal of Neonatal Screening, MDPI AG, Vol. 9, No. 2 ( 2023-04-13), p. 23-
    Abstract: Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015–2017 (17.50–18.31 per 10,000) to 2018–2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018–2020, including data from fifty US states and two territories.
    Type of Medium: Online Resource
    ISSN: 2409-515X
    URL: Article
    DOI: 10.3390/ijns9020023
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2840820-2
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  • 6
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    Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States
    MDPI AG ; 2022
    In:  International Journal of Neonatal Screening Vol. 8, No. 3 ( 2022-06-23), p. 38-
    Details
    In: International Journal of Neonatal Screening, MDPI AG, Vol. 8, No. 3 ( 2022-06-23), p. 38-
    Abstract: Cystic fibrosis (CF) newborn screening (NBS) was universally adopted in 2009 in the United States. Variations in NBS practices between states may impact the timing of diagnosis and intervention. Quantitative metrics can provide insight into NBS programs (NBSP), but the nuances cannot be elucidated without additional feedback from programs. This study was designed to determine facilitators and barriers to timely diagnosis and intervention following NBS for CF. The median age at the first CF event for infants with CF within each state was used to define early and late states (n = 15 per group); multiple CF centers were invited in states with more than two CF centers. Thirty states were eligible, and 61 NBSP and CF centers were invited to participate in structured interviews to determine facilitators and barriers. Once saturation of themes was reached, no other interviews were conducted. Forty-five interviews were conducted (n = 16 early CF center, n = 12 late CF center, n = 11 early NBSP, and n = 6 late NBSP). Most interviewees reported good communication between CF centers and NBSP. Communication between primary care providers (PCPs) and families was identified as a challenge, leading to delays in referral and subsequent diagnosis. The misperception of low clinical risk in infants from racial and ethnic minority groups was a barrier to early diagnostic evaluation for all groups. NBSP and CF centers have strong relationships. Early diagnosis may be facilitated through more engagement with PCPs. Quality improvement initiatives should focus on continuing strong partnerships between CF centers and NBS programs, improving education, communication strategies, and partnerships with PCPs, and improving CF NBS timeliness and accuracy.
    Type of Medium: Online Resource
    ISSN: 2409-515X
    URL: Article
    DOI: 10.3390/ijns8030038
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2840820-2
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  • 7
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    Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018
    Centers for Disease Control MMWR Office ; 2019
    In:  MMWR. Morbidity and Mortality Weekly Report Vol. 68, No. 5 ( 2019-02-08), p. 107-111
    Details
    In: MMWR. Morbidity and Mortality Weekly Report, Centers for Disease Control MMWR Office, Vol. 68, No. 5 ( 2019-02-08), p. 107-111
    Type of Medium: Online Resource
    ISSN: 0149-2195 , 1545-861X
    URL: Article
    DOI: 10.15585/mmwr.mm6805a3
    Language: English
    Publisher: Centers for Disease Control MMWR Office
    Publication Date: 2019
    detail.hit.zdb_id: 2067586-0
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  • 8
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    Introduction to the Special Issue: Public Health Genetics and Genomics
    Wiley ; 2015
    In:  Journal of Genetic Counseling Vol. 24, No. 3 ( 2015-06), p. 375-380
    Details
    In: Journal of Genetic Counseling, Wiley, Vol. 24, No. 3 ( 2015-06), p. 375-380
    Abstract: This special issue of the Journal of Genetic Counseling is dedicated to public health genetics and genomics. The seventeen papers featured in this issue span such topics as genetic counselors in public health roles, newborn screening, population screening, ethics, and health beliefs and behaviors. In this introduction to the special issue, we review some history of public health genetics and genomics, present the Centers for Disease Control and Prevention's “10 Essential Public Health Services” with associated geneticsspecificrecommendations and priorities, and briefly overview how each article ties into the world of public health genetics and genomics. We hope this issue encourages genetic counselors to visualize their everexpanding and important roles in public health genetics and genomics, as well as their contributions to improving population health.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    URL: Article
    DOI: 10.1007/s10897-015-9825-9
    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 9
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    Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening
    American Academy of Pediatrics (AAP) ; 2011
    In:  Pediatrics Vol. 128, No. 1 ( 2011-07-01), p. e246-e250
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 128, No. 1 ( 2011-07-01), p. e246-e250
    Abstract: Screened for by all state newborn screening (NBS) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or β-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and hypoglycemia/hyperglycemia. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of null mutations in both alleles of the ACAT1 gene and consists of persistently increased urinary excretion of ketones, characteristic organic acids, and tiglylglycine as well as abnormal blood or plasma acylcarnitine profiles in acute and stable conditions. Early diagnosis and aggressive management can prevent further episodes of ketoacidosis and lead to normal development. We report the cases of 3 children, all subsequently found to have mutations predicted to be associated with no residual T2 enzymatic activity, but only 1 was identified by NBS in Minnesota since 2001. To our knowledge, this is the first description of compound heterozygotes for null mutations associated with no enzymatic activity exhibiting normal urinary organic acid, blood, and plasma acylcarnitine profiles when clinically well, thereby explaining the false-negative NBS results. We suggest that T2 deficiency may be underrecognized, because the incidence of T2 deficiency in Minnesota, on the basis of these 3 cases, is 1 in 232 000, higher than the reported & lt;1 in 1 million incidence. Our cases emphasize that T2 deficiency must be considered in patients who present with ketoacidosis disproportionately severe to the triggering illness despite normal NBS results or nonspecific biochemical findings in blood and urine during asymptomatic periods.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2010-3918
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2011
    detail.hit.zdb_id: 1477004-0
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  • 10
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    Implementation of Critical Congenital Heart Disease Screening in Minnesota
    American Academy of Pediatrics (AAP) ; 2013
    In:  Pediatrics Vol. 132, No. 3 ( 2013-09-01), p. e587-e594
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 132, No. 3 ( 2013-09-01), p. e587-e594
    Abstract: To assess the level of preparedness and resources needed in Minnesota for the implementation of newborn screening for critical congenital heart diseases (CCHDs). METHODS: A cross sectional survey of all birth centers in Minnesota was performed to assess the capacity to deliver care essential for the CCHD screening program. Compliance with the screening algorithm, nursing workload, and cost were assessed by using a pilot program implemented in 6 normal newborn nurseries. RESULTS: Ninety-one of 99 eligible centers participated in the survey and 90 reported the ability to screen newborns in accordance with recommendations. Only 22 centers, with 63% of births, had access to echocardiography and routinely stocked prostaglandins for neonatal use. Our pilot study screened 7549 newborns with 6 failed screens and 1 CCHD diagnosis. Two of the failed screens were due to misinterpretation of the algorithm, 1 failed screen was not reported, and 4 failed screens were not recognized. Repeated screens were required for 115 newborns, with 29% of retesting due to misinterpretation of the algorithm. The mean nursing time required was 5.5 minutes, and the cost was $5.10 per screen. CONCLUSIONS: In Minnesota, two-thirds of newborns are born in centers with resources for initial diagnosis and management of CCHD. Implementation of a pilot screening program demonstrated minimal increase in nursing workload, but identified problems with interpretation of the algorithm and data reporting. This pilot project suggests the need for simplification of the algorithm, additional training of health care providers, and development of a centralized reporting mechanism.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2013-0803
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2013
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