Current status of newborn screening worldwide: 2015

Therrell, Bradford L.; Padilla, Carmencita D.; Loeber, J.G.; Kneisser, Issam; Saadallah, Amal; Borrajo, Gustavo; Adams, J. F.

doi:10.1053/j.semperi.2015.03.002

Cited by 466 publications

(475 citation statements)

References 138 publications

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“…[1][2][3][4] It involves taking a small amount of blood from a baby's heel shortly after birth and testing it for a number of serious conditions. The severity and treatability of paradigm conditions such as phenylketonuria and congenital hypothyroidism demanded early detection, garnering international support for NBS.…”

Section: Introductionmentioning

confidence: 99%

“…The severity and treatability of paradigm conditions such as phenylketonuria and congenital hypothyroidism demanded early detection, garnering international support for NBS. [4][5][6] Tandem mass spectrometry and next-generation sequencing allow the expansion of NBS panels to include conditions for which the natural history of the disorders is less clear, with debate regarding the balance of clinical risks and benefits to the affected infant. [5][6][7][8][9] A wider range of potential benefits for families have been proposed, including guidance for family planning, earlier diagnosis and avoidance of the 'diagnostic odyssey'.…”

Section: Introductionmentioning

confidence: 99%

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Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

et al. 2016

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Consent processes for newborn bloodspot screening (NBS) are variable, with a lack of descriptive research that depicts how the offer of NBS is made to parents. We explored the experience, in practice, of consent for NBS. Semistructured interviews in two Canadian provinces were held with: (1) parents of children offered NBS (n = 32); and (2) health-care professionals involved in the NBS process (n = 19). Data on recollections of NBS, including consent processes, were utilized to identify emerging themes using the method of constant comparison. Three themes were relevant to NBS consent: (1) The 'offer' of NBS; (2) content and timing of information provision; and (3) the importance of parental experiences for consent decisions. Recollections of consent for NBS were similar between jurisdictions. Excepting midwives and their patients, NBS was viewed as a routine part of giving birth, with little evidence of an informed consent process. Although most parents were satisfied, all respondents suggested information about NBS be provided long before the birth. Accounts of parents who declined screening highlight the influence of parental experiences with the heel prick process in screening decisions. Findings further our understanding of consent in practice and highlight areas for improvement in parent-provider interactions.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

et al. 2016

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“…Offered exclusively in the private sector [5] Brazil Offered exclusively in the private sector [5] Chile Offered as selective screening [5] Colombia No full population screening; offered in the private sector [5] Costa Rica [5] Dominican Republic Offered exclusively in the private sector [5] Mexico No full population screening [5] Uruguay No full population screening [5] Venezuela Offered exclusively in the private sector [5] Africa South Africa Offered exclusively in the private sector [12] Middle Figure 1). It is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene and is inherited as an autosomal recessive trait.…”

Section: Argentinamentioning

confidence: 99%

“…Yet, IVA (OMIM #243500) has been included in many NBS programs, most recently in the United Kingdom [4] (Table 1). [5] China No full population screening [5] India No full population screening; program not government funded [5] Japan [5] Malaysia No full population screening [5] New Zealand 2006 [6] Philippines No full population screening [5] Singapore [5] South Korea [5] Thailand No full population screening [5] Taiwan [5] Europe Austria 2002 a [5] Belgium 2009 (Pilot 2007) b [5] Czech Republic 2010 c [5] Denmark 2012 [5,7] Estonia No full population screening [5] Germany Bavaria 1999 Nationwide 2005 [8,9] Greece [10] Hungary [5] Iceland 2008 d [5] Italy No full population screening [5] Liechtenstein [5] Macedonia No full population screening 2013 e Personal communication e…”

Section: Introductionmentioning

confidence: 99%

“…Netherlands [5] Norway [5] Poland [5] Portugal [5] Russia [5] San Marino No full population screening [5] Spain [5] Sweden [5] Switzerland [5] United Kingdom Not in Scotland and Northern Ireland 2015 (Pilot 2012) f [5] North America United States IVA included in all states but District of Columbia and Massachusetts [5] Canada IVA included in all provinces/territories but Newfoundland & Labrador; IVA screened by urine in Quebec [11] South America…”

Section: Introductionmentioning

confidence: 99%

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Aspects of Newborn Screening in Isovaleric Acidemia

Schlune

Riederer

Mayatepek

et al. 2018

IJNS

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Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes were known, an "acute neonatal" and a "chronic intermittent" form. An additional biochemically mild and potentially asymptomatic form of IVA and its association with a common missense mutation, c.932C>T (p.A282V), was discovered in subjects identified through NBS. Deficiency of short/branched chain specific acyl-CoA dehydrogenase (2-methylbutyryl-CoA dehydrogenase), a defect of isoleucine degradation whose clinical significance remains unclear, also results in elevated C5-carnitine, and may therefore be detected by NBS for IVA. Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with L-carnitine and/or L-glycine. Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required.

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Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

Chen,

Fan,

Huang

et al. 2023

JAMA Netw Open

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ImportanceNewborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population.ObjectiveTo evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test.Design, Setting, and ParticipantsThis cohort study included newborns who were prospectively recruited from 8 screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.ExposuresAll participants were concurrently screened using dried blood spots. The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel.Main Outcomes and MeasuresThe primary outcomes were the number of patients detected by gene panel sequencing but undetected by the biochemical test.ResultsThis study prospectively recruited 29 601 newborns (15 357 [51.2%] male). The mean (SD) gestational age was 39.0 (1.5) weeks, and the mean (SD) birth weight was 3273 (457) g. The gene panel sequencing screened 813 infants (2.7%; 95% CI, 2.6%-2.9%) as positive. By the date of follow-up, 402 infants (1.4%; 95% CI, 1.2%-1.5%) had been diagnosed, indicating the positive predictive value was 50.4% (95% CI, 50.0%-53.9%). The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into 1 out of every 500 newborns (95% CI, 1/385-1/625) benefiting from the implementation of gene panels as a first-tier screening test.Conclusions and RelevanceIn this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.

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Current status of newborn screening worldwide: 2015

Cited by 466 publications

References 138 publications

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

Aspects of Newborn Screening in Isovaleric Acidemia

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

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