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[PMID]:29215423
[Au] Autor:Anderson S
[Ad] Endereço:Sharon Anderson is an Assistant Professor, Rutgers School of Nursing, Newark, and Advanced Practice Nurse, Pediatric Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ. The author can be reached via e-mail at sharon.anderson@rutgers.edu.
[Ti] Título:GALT Deficiency Galactosemia.
[So] Source:MCN Am J Matern Child Nurs;43(1):44-51, 2018 Jan/Feb.
[Is] ISSN:1539-0683
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk.
[Mh] Termos MeSH primário: Galactosemias/diagnóstico
Galactosemias/fisiopatologia
Triagem Neonatal/métodos
UTP-Hexose-1-Fosfato Uridililtransferase/análise
[Mh] Termos MeSH secundário: Galactosemias/metabolismo
Seres Humanos
Recém-Nascido
Necessidades Nutricionais
UTP-Hexose-1-Fosfato Uridililtransferase/sangue
UTP-Hexose-1-Fosfato Uridililtransferase/toxicidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM; N
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.1097/NMC.0000000000000388


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[PMID]:29246344
[Au] Autor:Kilberg MJ; Rasooly IR; LaFranchi SH; Bauer AJ; Hawkes CP
[Ad] Endereço:Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA.
[Ti] Título:Newborn Screening in the US May Miss Mild Persistent Hypothyroidism.
[So] Source:J Pediatr;192:204-208, 2018 Jan.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine if newborn screening (NBS) programs for congenital hypothyroidism in the US use thyroid-stimulating hormone (TSH) cutoffs that are age adjusted to account for the physiologic 4-fold reduction in TSH concentrations over the first few days of life. STUDY DESIGN: All NBS programs in the US were contacted and asked to provide information on their NBS protocols, TSH cutoffs, and whether these cutoffs were age adjusted. RESULTS: Of 51 NBS programs, 28 request a repeat specimen if the initial eluted serum TSH concentration is mildly increased (between the cutoff and a median upper limit of 50 mU/L), whereas 14 programs perform a routine second screen in all infants. Although these specimens are typically collected between 1 week and 1 month of life, 16 of the 28 programs with a discretionary second test and 8 of 14 programs with a routine second test do not have age-adjusted TSH cutoffs after the first 48 hours of life. CONCLUSIONS: There is variation in NBS practices for screening for congenital hypothyroidism across the US, and many programs do not adjust the TSH cutoff beyond the first 2 days of life. Samples are processed when received from older infants, often to retest borderline initial results. This approach will miss congenital hypothyroidism in infants with persistent mild TSH elevations. We recommend that all NBS programs provide age-adjusted TSH cutoffs, and suggest developing a standard approach to screening for congenital hypothyroidism in the US.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Fidelidade a Diretrizes/estatística & dados numéricos
Disparidades em Assistência à Saúde/estatística & dados numéricos
Triagem Neonatal/normas
Testes de Função Tireóidea/normas
Tireotropina/sangue
[Mh] Termos MeSH secundário: Fatores Etários
Algoritmos
Biomarcadores/sangue
Hipotireoidismo Congênito/sangue
Seres Humanos
Recém-Nascido
Triagem Neonatal/métodos
Guias de Prática Clínica como Assunto
Padrões de Referência
Testes de Função Tireóidea/métodos
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180225
[Lr] Data última revisão:
180225
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171217
[St] Status:MEDLINE


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[PMID]:29174009
[Au] Autor:Sermet-Gaudelus I; Brouard J; Audrézet MP; Couderc Kohen L; Weiss L; Wizla N; Vrielynck S; LLerena K; Le Bourgeois M; Deneuville E; Remus N; Nguyen-Khoa T; Raynal C; Roussey M; Girodon E
[Ad] Endereço:Cystic fibrosis center, Necker-Enfants-Malades hospital, 75015 Paris, France; Inserm U1151, 75993 Paris, France. Electronic address: isabelle.sermet@aphp.fr.
[Ti] Título:Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
[So] Source:Arch Pediatr;24(12):e1-e14, 2017 Dec.
[Is] ISSN:1769-664X
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Neonatal screening for cystic fibrosis (CF) can detect infants with elevated immunoreactive trypsinogen (IRT) levels and inconclusive sweat tests and/or CFTR DNA results. These cases of uncertain diagnosis are defined by (1) either the presence of at most one CF-associated cystic fibrosis transmembrane conductance regulator (CFTR) mutation with sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenic potential and a sweat chloride concentration below 60mmol/L. This encompasses various clinical situations whose progression cannot be predicted. In these cases, a sweat chloride test has to be repeated at 12 months, and if possible at 6 and 24 months of life along with extended CFTR sequencing to detect rare mutations. When the diagnosis is not definite, CFTR functional explorations may provide a better understanding of CFTR dysfunction. The initial evaluation of these infants must be conducted in dedicated CF reference centers and should include bacteriological sputum analysis, chest radiology, and fecal elastase assay. The primary care physicians in charge of these patients should be familiar with the current management of CF and should work in collaboration with CF centers. A follow-up should be performed in a CF reference center at 3, 6, and 12 months of life and every year thereafter. Any symptom indicative of CF requires immediate reevaluation of the diagnosis. These guidelines were established by the "neonatal screening and difficult diagnoses" working group of the French CF society. Their objective is to standardize the management of infants with unclear diagnosis.
[Mh] Termos MeSH primário: Fibrose Cística/diagnóstico
Fibrose Cística/terapia
[Mh] Termos MeSH secundário: Algoritmos
Seguimentos
Seres Humanos
Recém-Nascido
Triagem Neonatal
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE


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[PMID]:29172662
[Au] Autor:Papp F; Rácz G; Lénárt I; Kóbor J; Bereczki C; Karg E; Baráth Á
[Ad] Endereço:Gyermekgyógyászati Klinika és Gyermek-egészségügyi Központ, Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ Szeged, Korányi fasor 14-15., 6720.
[Ti] Título:[Maternal and neonatal vitamin B deficiency detected by expanded newborn screening].
[Ti] Título:Anyai és újszülöttkori B -vitamin-hiány felismerése kiterjesztett újszülöttkori szuréssel..
[So] Source:Orv Hetil;158(48):1909-1918, 2017 Dec.
[Is] ISSN:0030-6002
[Cp] País de publicação:Hungary
[La] Idioma:hun
[Ab] Resumo:INTRODUCTION: Infant vitamin B deficiency can manifest as a severe neurodegenerative disorder and is usually caused by maternal deficiency due to vegetarian diet or pernicious anaemia. Its early recognition and treatment can prevent potentially serious and irreversible neurologic damage. Biochemically, vitamin B deficiency leads to an accumulation of methylmalonic acid, homocysteine, and propionylcarnitine. Expanded newborn screening using tandem mass spectrometry may identify neonatal and maternal vitamin B deficiency by measurement of propionylcarnitine and other metabolites in the dried blood spot sample of newborns. AIM: To summarize our experiences gained by screening for vitamin B deficiency. METHOD: Clinical and laboratory data of vitamin B -deficient infants diagnosed in Szeged Screening Centre were retrospectively analysed. RESULTS: In Hungary, expanded newborn screening was introduced in 2007. Since then approximately 395 000 newborns were screened in our centre and among them, we identified four newborns with vitamin B deficiency based on their screening results. In three cases an elevated propionylcarnitine level and in the fourth one a low methionine level were indicative of vitamin B deficiency. We also detected an additional vitamin B -deficient infant with neurological symptoms at 4 months of age, after a normal newborn screening, because of elevated urinary methylmalonic acid concentration. Vitamin B deficiency was secondary to maternal autoimmune pernicious anaemia in all the five infants. As a result of the recognized cases the incidence of infant vitamin B deficiency in the East-Hungarian region was 1.26/100 000 births, but the real frequency may be higher. Conslusions: Optimizing the cut off values of current screening parameters and measuring of methylmalonic acid and/or homocysteine in the dried blood spot, as a second tier test, can improve recognition rate of vitamin B deficiency. Orv Hetil. 2017; 158(48): 1909-1918.
[Mh] Termos MeSH primário: Triagem Neonatal/métodos
Complicações na Gravidez/diagnóstico
Deficiência de Vitamina B 12/diagnóstico
[Mh] Termos MeSH secundário: Anemia Perniciosa/imunologia
Feminino
Seres Humanos
Hungria
Incidência
Recém-Nascido
Fenômenos Fisiológicos da Nutrição Materna
Gravidez
Estudos Retrospectivos
Espectrometria de Massas em Tandem
Deficiência de Vitamina B 12/sangue
Deficiência de Vitamina B 12/etiologia
Deficiência de Vitamina B 12/urina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1556/650.2017.30901


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[PMID]:29172660
[Au] Autor:Szabó E; Balogh L; Szabó A; Szatmári I
[Ad] Endereço:I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53-54., 1083.
[Ti] Título:[Diagnostics of inborn errors of metabolism: laboratory approaches].
[Ti] Título:Ritka örökletes anyagcsere-betegségek diagnosztikája: laboratóriumi vizsgálati megközelítések..
[So] Source:Orv Hetil;158(48):1903-1907, 2017 Dec.
[Is] ISSN:0030-6002
[Cp] País de publicação:Hungary
[La] Idioma:hun
[Ab] Resumo:Inherited errors of metabolism are rare genetic disorders characterized by diverse clinical and biochemical phenotypes. The complexity of signs and symptoms often presents a challenge for both clinicians and laboratory specialists. In many cases, prevention of permanent neurological symptoms or death in patients presenting these disorders is dependent on early diagnosis and introduction of appropriate therapy. For professionals it is indispensable to be familiar with the major clinical signs of inborn errors of metabolism and with the necessary and available laboratory studies to achieve an early diagnosis. The review tries to give a way of approach, diagnostic algorithm of laboratory measurements for the correct diagnosis in inherited errors of metabolism. The combination of biochemical and clinical signs, results of special metabolic investigations represent a portentous challenge in general practice. For the correct diagnosis of an inherited error of metabolism, the teamwork between clinicians and laboratory specialists is indispensable. Orv Hetil. 2017; 158(48): 1903-1907.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo/diagnóstico
Triagem Neonatal/métodos
[Mh] Termos MeSH secundário: Algoritmos
Técnicas de Laboratório Clínico
Diagnóstico Precoce
Seres Humanos
Recém-Nascido
Comunicação Interdisciplinar
Erros Inatos do Metabolismo/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1556/650.2017.30899


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[PMID]:28456989
[Au] Autor:Sozmen EY; Sezer ED
[Ad] Endereço:Department of Medical Biochemistry and Metabolism Laboratory, Ege University Faculty of Medicine, Izmir, Turkey. eser.sozmen@ege.edu.tr.
[Ti] Título:Methods for Determination of α-Glycosidase, ß-Glycosidase, and α-Galactosidase Activities in Dried Blood Spot Samples.
[So] Source:Methods Mol Biol;1594:255-264, 2017.
[Is] ISSN:1940-6029
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication.The use of dried blood spot (DBS) test has been proposed as a first tier test to identify patients with Gaucher, Pompe, and Fabry diseases. DBS usage is advantageous for the purpose of screening as it is non-invasive, sensitive, has low-cost and fast turnaround time compared to measurements in leucocyte and/or fibroblast culture. This chapter focuses on the activity measurement of three lysosomal enzymes (α-glucosidase, ß-glucosidase, and α galactosidase) in DBS samples by using fluorescent substrates and by the LC-MS/MS (liquid chromatography-mass spectrometry) method. All steps of the methods, from preparation of the solutions to calculation of the enzyme activity, will be explained in detail.
[Mh] Termos MeSH primário: Teste em Amostras de Sangue Seco/métodos
Doenças por Armazenamento dos Lisossomos/enzimologia
alfa-Galactosidase/sangue
alfa-Glucosidases/sangue
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Isoenzimas/sangue
Doenças por Armazenamento dos Lisossomos/sangue
Doenças por Armazenamento dos Lisossomos/diagnóstico
Triagem Neonatal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Isoenzymes); 2HLC17MX9G (agalsidase alfa); EC 3.2.1.20 (alpha-Glucosidases); EC 3.2.1.22 (alpha-Galactosidase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1007/978-1-4939-6934-0_17


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[PMID]:29178644
[Au] Autor:Regier DS; Ferreira CR; Hart S; Hadley DW; Muenke M
[Ad] Endereço:Rare Disease Institute, Children's National Health System, Washington, DC, USA.
[Ti] Título:Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.
[So] Source:Mol Genet Genomic Med;5(6):621-630, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.
[Mh] Termos MeSH primário: Aconselhamento Genético
Genética Médica/educação
Genômica/educação
Triagem Neonatal
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Erros Inatos do Metabolismo/diagnóstico
Erros Inatos do Metabolismo/genética
Diagnóstico Pré-Natal
Sistema de Registros
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.343


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[PMID]:28465033
[Au] Autor:Kim JI; Noh JY; Kim M; Park JM; Song HW; Kang MJ; Pyun JC
[Ad] Endereço:Department of Materials Sciences and Engineering, Yonsei University, Seoul, South Korea.
[Ti] Título:Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip.
[So] Source:Anal Biochem;530:31-39, 2017 08 01.
[Is] ISSN:1096-0309
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Methanol extraction was adopted for simple and rapid sample preparation of serum before mass spectrometric analysis showing 13.3 to 45% of extraction efficiency. Calibration curves for diagnosis of neonatal metabolic disorders were obtained by analyzing methanol-extracted serum spiked with target amino acids using MALDI-ToF MS. They showed good linearity (R > 0.98) and the LODs were ranging from 9.0 to 22.9 µg/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders.
[Mh] Termos MeSH primário: Aminoácidos/sangue
Triagem Neonatal/métodos
Polímeros/química
Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos
Xilenos/química
[Mh] Termos MeSH secundário: Aminoácidos/química
Seres Humanos
Recém-Nascido
Limite de Detecção
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amino Acids); 0 (Polymers); 0 (Xylenes); 25722-33-2 (parylene)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE


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[PMID]:29238947
[Au] Autor:Szczepanek-Parulska E; Hernik A; Ruchala M
[Ti] Título:Thyroid ectopy - diagnostic and therapeutic challenges before and in the era of TSH neonatal screening.
[Ti] Título:Ektopia tarczycy ­ wyzwania diagnostyczne i terapeutyczne przed wprowadzeniem przesiewowego badania TSH noworodków i po nim..
[So] Source:Endokrynol Pol;68(6):708-721, 2017.
[Is] ISSN:2299-8306
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood. Introduction of neonatal screening for congenital hypothyroidism does not guarantee that all patients with thyroid ectopy will be correctly diagnosed and properly treated due to the possibility of falsely negative result of TSH screening or lack of compliance from parents. Visualization of an ectopic thyroid on ultrasound examination may be challenging for unexperienced sonographists; muscles in the thyroid bed may be misdiagnosed as heterogeneous and hypoechogenic thyroid gland with features suggesting autoimmune thyroid disease. Thyroid scintiscan is crucial for confirmation of the diagnosis of thyroid ectopy. In conclusion, hypothyroidism due to thyroid developmental anomaly should be taken into consideration in case of hypothyroidism and normal thyroid autoantibodies in a patient at any age.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Triagem Neonatal
Guias de Prática Clínica como Assunto
Disgenesia da Tireoide/diagnóstico
Tireotropina/sangue
[Mh] Termos MeSH secundário: Adulto
Hipotireoidismo Congênito/sangue
Hipotireoidismo Congênito/diagnóstico por imagem
Hipotireoidismo Congênito/tratamento farmacológico
Feminino
Seres Humanos
Recém-Nascido
Cintilografia
Disgenesia da Tireoide/sangue
Disgenesia da Tireoide/diagnóstico por imagem
Disgenesia da Tireoide/tratamento farmacológico
Glândula Tireoide/diagnóstico por imagem
Ultrassonografia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180130
[Lr] Data última revisão:
180130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE
[do] DOI:10.5603/EP.a2017.0061


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[PMID]:29209720
[Au] Autor:Abouk R; Grosse SD; Ailes EC; Oster ME
[Ad] Endereço:William Paterson University, Cotsakos College of Business, Wayne, New Jersey.
[Ti] Título:Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.
[So] Source:JAMA;318(21):2111-2118, 2017 Dec 05.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. Objective: To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. Design, Setting, and Participants: Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26 546 503 US births through June 30, 2013, aggregated by month and state of birth. Exposures: State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates. Main Outcomes and Measures: Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort. Results: Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100 000 births (n = 37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100 000 births (n = 13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100 000 births in 2007 (n = 54) and 10.3 (95% CI, 5.9-14.8) per 100 000 births (n = 21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100 000 births after states implemented mandatory screening compared with prior periods and states without screening policies. Early infant deaths from other/unspecified cardiac causes declined by 21.4% (95% CI, 6.9%-33.7%), with an absolute decline of 3.5 (95% CI, 3.2-3.8) deaths per 100 000 births. No significant decrease was associated with nonmandatory screening policies. Conclusions and Relevance: Statewide implementation of mandatory policies for newborn screening for critical congenital heart disease was associated with a significant decrease in infant cardiac deaths between 2007 and 2013 compared with states without these policies.
[Mh] Termos MeSH primário: Cardiopatias Congênitas/diagnóstico
Cardiopatias Congênitas/mortalidade
Mortalidade Infantil
Programas Obrigatórios
Triagem Neonatal/legislação & jurisprudência
Governo Estadual
[Mh] Termos MeSH secundário: Política de Saúde
Seres Humanos
Lactente
Recém-Nascido
Mortalidade/tendências
Triagem Neonatal/utilização
Estados Unidos/epidemiologia
Estatísticas Vitais
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180117
[Lr] Data última revisão:
180117
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171207
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.17627



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