scholarly journals Empowering newborn screening programs in African countries through establishment of an international collaborative effort

2020 ◽  
Vol 11 (3) ◽  
pp. 253-268 ◽  
Author(s):  
Bradford L. Therrell ◽  
◽  
Michele A. Lloyd-Puryear ◽  
Kwaku Ohene-Frempong ◽  
Russell E. Ware ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Collaborative Effort ◽  
African Countries ◽  
Screening Programs ◽  
International Collaborative

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Failure To Thrive ◽  
Thyroid Stimulating Hormone ◽  
Low Birth Weight Infants ◽  
Term Infants ◽  
Screening Programs ◽  
Screening Strategies

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

PP58 The Alliance Between Health Technology Assessment And Public Health In National Screening Policies

2019 ◽  
Vol 35 (S1) ◽  
pp. 48-48
Author(s):  
Leonor Varela-Lema ◽  
Janet Puñal-Riobóo ◽  
Paula Cantero-Muñoz ◽  
Maria José Faraldo-Vallés
Keyword(s):  
Public Health ◽  
Decision Making ◽  
Newborn Screening ◽  
Health Technology Assessment ◽  
Technology Assessment ◽  
National Health System ◽  
Health Technology ◽  
Screening Tests ◽  
Special Focus ◽  
Screening Programs

IntroductionDecision making regarding national population-based prenatal and newborn screening policies is recognized to be highly challenging. This paper aims to describe the formalized collaboration that has been established between the Spanish National Public Health Screening Advisory Committee (PHSAC) and the Spanish Network of Health Technology Assessment (HTA) agencies to support the development of evidence- and consensus-based recommendations to support this process.MethodsIn-depth description and analysis of the strategic and methodological processes that have been implemented within the Spanish National Health System prenatal and newborn screening frameworks, with special emphasis on the role, actions, and responsibilities of HTA agencies.ResultsThe role of HTA agencies is threefold: (i) support the PHSAC by providing evidence on safety, effectiveness and cost/effectiveness of the screening tests/strategies, as well as contextualized information regarding costs, organizational, social, legal and ethical issues; (ii) collaborate with the PHSAC in the development of formal evidence- and consensus-based recommendations for defining population screening programs, when required; (iii) analyze real-world data that is generated by piloted programs. This paper will provide real-life examples of how these processes were implemented in practice, with a special focus on the development of the non-invasive prenatal testing (NIPT) policy. Recommendations for NIPT were developed by a multidisciplinary group based on the European network for Health Technology Assessment (EUnetHTA) rapid assessment report and the predictive models that were built using national statistics and other contextualized data.ConclusionsThe current work represents an innovative approach for prenatal and newborn screening policymaking, which are commonly difficult to evaluate due to the low quality of evidence and the confounding public health issues. The paper raises awareness regarding the importance of joint collaborations in areas where evidence is commonly insufficient for decision making.

Current and future perspective of newborn screening: an Indian scenario

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  
Keyword(s):  
Health Care ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Health Care System ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Metabolic Disorders ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

Issues in State Newborn Screening Programs

PEDIATRICS ◽  
1992 ◽  
Vol 90 (4) ◽  
pp. 641-646 ◽  
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Medical Literature ◽  
Biotinidase Deficiency ◽  
New Techniques ◽  
Genetic Characteristics ◽  
Screening Programs ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Grand Rounds

These are heady times for newborn screening. Articles in the medical literature and speakers at grand rounds urge us to test babies for disorders, including cystic fibrosis,1 biotinidase deficiency,2 and medium-chain acyl coenzyme A dehydrogenase deficiency.3 States are expanding the batteries of tests they perform. My own state of Tennessee just began testing neonates for galactosemia this year. And this is no doubt just the beginning. New techniques are being developed that will make it possible to look for a host of genetic characteristics using microscopic amounts of blood. We soon may be able to discern many conditions and characteristics of our children.

Should Screening Programs Be Perfect?

PEDIATRICS ◽  
1983 ◽  
Vol 71 (2) ◽  
pp. 301-301
Author(s):  
MARVIN L. MITCHELL
Keyword(s):  
Health Care ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Screening Programs ◽  
Overwhelming Evidence

In Reply.— Wyatt makes two points regarding the vulnerability of newborn screening programs but only one, in my opinion, has serious implications. With regard to the first, that the pitfalls might be used as an excuse to curtail screening programs seems unlikely. The overwhelming evidence accumulated from all programs involved in neonatal screening indicates that despite the occasional missed case, without such programs, the damage to children and their families would have been incalculable. Faced with this evidence few would have the temerity to attempt to discredit the value of screening programs or limit their involvement in health care.

Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines

PEDIATRICS ◽  
1993 ◽  
Vol 91 (6) ◽  
pp. 1203-1209
Author(s):  
Keyword(s):  
Thyroid Hormone ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Placental Transfer ◽  
Fetal Brain ◽  
Iodothyronine Deiodinase ◽  
Screening Programs ◽  
Organ Systems ◽  
Fetal Hypothyroidism ◽  
Maternal Thyroid

Congenital hypothyroidism (CH) represents one of the most common preventable causes of mental retardation. The fetal hypothalamic-pituitary-thyroid axis begins to function by midgestation and is mature in the term infant at delivery. If fetal hypothyroidism develops, untoward effects may be demonstrated in certain organ systems, including the central nervous system and skeleton. However, most infants with CH appear normal at birth. Recent data suggest that the hypothyroid fetus is protected to a certain extent by placental transfer of maternal thyroid hormone; serum thyroxine (T4) levels in the cord blood of athyroid fetuses approximate one third of maternal levels.1 In addition, studies in animal models of hypothyroidism demonstrate increased levels of brain iodothyronine deiodinase, the enzyme which converts T4 to triiodothyronine (T3). In the hypothyroid fetus, this increased enzyme acting on T4 of maternal origin is sufficient to produce near normal fetal brain T3 concentrations.2 Thus, it appears that early detection and treatment of congenital hypothyroidism should have the potential to completely reverse the effects of fetal hypothyroidism in all but the most severe cases, for example, athyreotic infants born to mothers with thyroid problems resulting in inadequate placental transfer of maternal thyroid hormone. Since the development of pilot screening programs for CH in Quebec and Pittsburgh in 1974,3 newborn screening for CH has become routine in essentially all developed countries of the world and is under development in Eastern Europe, South America, Asia, and Africa. In North America it is estimated that more than 5 million newborns are screened, with approximately 1400 infants with congenital hypothyroidism detected annually.

scholarly journals Mortalidade infantil em município da região Centro-Oeste Paulista, Brasil, 1990 a 1992

1997 ◽  
Vol 31 (4) ◽  
pp. 330-341 ◽  
Author(s):  
Jaime de O. Gomes ◽  
Augusto H. Santo
Keyword(s):  
Collaborative Effort ◽  
International Collaborative

INTRODUÇÃO: A mortalidade infantil em Presidente Prudente, SP (Brasil), foi estudada no período de 1990 a 1992, a partir de aplicação de métodos para obtenção de diagnóstico coletivo que orientassem a identificação e escolha de estratégias de controle de problemas locais. MATERIAL E MÉTODO: Foram utilizadas declarações de óbito colhidas no cartório, cujos dados originais foram corrigidos por meio de pesquisa documental nos serviços de saúde e entrevistas domiciliares. Para estudar variáveis como idade materna e peso ao nascer foram utilizados os dados do Sistema de Informações sobre Nascidos Vivos (SINASC). A qualidade dos dados originais das declarações de óbitos foi inicialmente analisada pela quantidade de informações, sensibilidade, especificidade e valor de Kappa. RESULTADO: A sensibilidade global para a causa básica de óbito foi 78,84% e Kappa igual a 71,32 para o total de causas. Ocorreram 189 óbitos, sendo 66,15% no período neonatal (41,28% durante o primeiro dia de vida) e 33,85% no infantil tardio. O peso ao nascer de 58,28% dos óbitos foi menor que 2.500g. As causas básicas de óbito foram estudadas segundo a possibilidade de serem prevenidas (método desenvolvido por Erica Taucher) por grupos de causas reduzidas utilizadas no "International Collaborative Effort" (ICE), causas múltiplas e distribuição geográfica. Observou-se que nos óbitos ocorridos até 27 dias, 22,23% poderiam ser evitados por adequada atenção ao parto, 20,64% seriam redutíveis por diagnóstico e tratamento precoce, 13,75% por bom controle da gravidez e apenas 7,94% não evitáveis. Das mortes ocorridas no período infantil tardio, 12,17% foram classificadas como outras preveníveis e 4,23% foram consideradas não evitáveis. Segundo os grupos do ICE, 58,74% faleceram por imaturidade ou asfixias; 19,58% por infecções e, 12,17%, por anomalias congênitas. CONCLUSÃO: Os resultados sugerem prioridade para assistência obstétrica no trabalho de parto e atenção pediátrica por baixo peso ao nascer, entre outras. A análise por causas múltiplas mostra que 76,05% dos óbitos têm as causas básicas relacionadas a causas perinatais e confirma a relação entre as deficiências de peso e as complicações respiratórias do recém-nascido. As complicações maternas também relacionaram-se com o baixo peso. Identificaram-se grandes diferenças no coeficiente de mortalidade infantil entre as áreas da zona urbana não somente restritas aos valores, como também ao tipo de doenças responsáveis pela ocorrência do óbito. Conclui-se haver vantagem no uso associado das quatro técnicas que são complementares, tanto para estudo, como para planejamento de ações dirigidas à prevenção da mortalidade infantil.

Newborn Screening Fact Sheets

PEDIATRICS ◽  
1996 ◽  
Vol 98 (3) ◽  
pp. 473-501 ◽  
Keyword(s):  
Newborn Screening ◽  
The United States ◽  
Screening Tests ◽  
Test Results ◽  
Screening Programs ◽  
American Academy Of Pediatrics ◽  
Policies And Procedures ◽  
Children And Parents ◽  
The Individual ◽  
Current Screening

These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics (AAP) with considerable assistance and consultation from many individuals. It is hoped that the information contained in these fact sheets will assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Newborn screening is an individual function of each state; therefore, screening programs are not uniform throughout the United States (Table). Because the test results can affect children and parents in a variety of ways, there are special concerns about how states make decisions to adopt new tests and how they evaluate their current screening panels. Currently, many states are examining their practices. The informatiion in the fact sheets was not designed to advocate specific newborn screening tests but to assist pediatricians in evaluating policies and procedures and in developing appropriate positions based on the needs of their patients and their geographic regions.

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