Short Report: False-negative primary neonatal thyroid screening: the need                for clinical vigilance and secondary screening

Yunis, Khalid; Nasr, Michel R.; Lepejian, G; Najjar, Shadi; Daher, Rose T.

doi:10.1258/096914103321610725

Cited by 10 publications

(11 citation statements)

References 18 publications

(34 reference statements)

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“…O padrão utilizado para diferenciar a criança sadia da suspeita de HC deve-se guiar pela possibilidade mí-nima de erro de diagnóstico do programa de triagem neonatal, que poderá levar à posterior seqüela indelé-vel na criança não identificada com HC (57,58).…”

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Ramalho

Oliveira

et al. 2008

Arq Bras Endocrinol Metab

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RESUMOAvaliamos as concentrações do TSH em papel-filtro colhido no calcanhar (TSHneo) de 48.039 crianças triadas do programa de triagem neonatal (PTN) para o hipotireoidismo congênito (HC) de Sergipe, as concentrações de TSH, T4 total e T4 livre colhidas em sangue periférico nas crianças convocadas suspeitas de HC, a idade nas diversas fases do programa, a cobertura e a freqüência do PTN de janeiro de 2005 a agosto de 2006, comparando-as com dados da literatura. Utilizamos para análise os seguintes parâmetros: média, mediana, coeficiente de variação e distribuição de freqüência. A idade da criança por ocasião da coleta em papel filtro no calcanhar foi 10 ± 9 dias (média ± desvio-padrão) e a idade na realização do ensaio do TSHneo foi de 31 ± 13 dias. Em 2005, a cobertura do PTN, para o interior e para a capital de Sergipe, foi de 77% e 73%, respectivamente. Verificamos que em 99,484% das crianças triadas as concentrações do TSH coletado em papel-filtro encontravam-se entre 0,01 e 5,20 µU/mL. As concentrações do TSH decrescem com o aumento da idade até estabilizar entre 11 e 15 dias de vida. ABSTRACT Neonatal Screening Program for Congenital Hypothyroidism in Northeast of Brazil: Criteria, Diagnosis and Results.It was evaluated the concentration of TSH in blood spot (TSHneo) of 48.039 children included in the Neonatal Screening Program (NSP) for Congenital Hypothyroidism (CH) of Sergipe (SE), a state in the northeast of Brazil. It was also evaluated the concentration of serum TSH, total T4 and free T4 in the recalled children suspicious of having CH, their age in several phases of the program, the covering and frequency of the NSP in the cases from January 2005 to August 2006, comparing them with literature data. The following parameters were used or the analysis: mean, standard deviation, median, coefficient of variation and frequency distribution. The children´s age at the collection in filter-paper specimen was 10 ± 9 days (Mean±SD) and the TSHneo execution assay was done in the period of 31 ± 13 days. In 2005 the covering by the NSP was about 77% in the countryside and 73% in Aracaju, the capital of Sergipe. It was verified that in 99,484% of the children included in the screening, the TSHneo varied from 0,01 to 5,20µU/ml, decreasing according to the age and stabilizing when they were between 11 and 15 days. 248 children were recalled from the TSHneo (1/194).The concentrations of TSH, T4 and free T4 collected by venous puncture were normal in 119 children (1/404). The frequency of suspected CH was 1/485 (99 cases), of CH was 1/6005 (8 cases) and of hypothyroxinemia was 1/16013 (3 cases). Therapy for CH began within 51 ± 12 days.

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Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Ramalho

Oliveira

et al. 2008

Arq Bras Endocrinol Metab

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“…Diagnostic delay from false negatives may arise by steering the diagnostic evaluation away from the true condition due to false reassurance of clinicians and families, especially if they are unaware of the potential for false negative results. While newborn screening overall attempts to minimize false negatives through the methodology for developing quality control of screening algorithms [27, 28], screening or diagnostic tests for some conditions, including point-of-care screening, may have relatively low sensitivity [29]. In addition to the fundamental challenges of using screening tests to discriminate populations with overlapping distributions of test characteristics, false negatives can arise from a number of clinical or laboratory practices.…”

Section: Resultsmentioning

confidence: 99%

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review

Goldenberg

Comeau

Grosse

et al. 2016

Matern Child Health J

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Background The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (“Advisory Committee”) makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee’s decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits. Procedures The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee. Main findings To support the Advisory Committee’s review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy. Conclusions Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee.

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“…In this study, we directly used cord blood samples because TSH testing programs that use peripheral blood need serial screening at two and six weeks of age; this is difficult in Bisha for many reasons, one of which is that the early discharge of mothers postpartum increases the proportion of false-positive TSH elevations. With the failure of repeated testing in the peripheral blood sampling method, approximately half of the newborns with congenital thyroid hormone deficiency will be missed [20,21]. It is well known that in Saudi Arabia, the TSH screening program for CH was started earlier in 1989 [22].…”

Section: Discussionmentioning

confidence: 99%

Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

Abbas

Tayrab

Elmakki

et al. 2020

Cureus

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Short Report: False-negative primary neonatal thyroid screening: the need for clinical vigilance and secondary screening

Cited by 10 publications

References 18 publications

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review

Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

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