Universal newborn screening: A roadmap for action

Howson, Christopher P.; Cedergren, B.; Giugliani, Roberto; Huhtinen, P.; Padilla, Carmencita D.; Palubiak, C.S.; Santos, Marcelo; Schwartz, Ida; Therrell, Bradford L.; Umemoto, Aiko; Wang, J.; Zeng, Xiangli; Zhao, Xuezhi; Zhong, Nanbert; McCabe, Edward R.B.

doi:10.1016/j.ymgme.2018.04.009

Cited by 43 publications

(40 citation statements)

References 23 publications

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“…Newborn screening (NBS) was first included in screening panels in the South region of China (Howson et al, ). Later, it was expanded to other regions of China for its clinical significance in the identification of neonatal jaundice and acute or chronic hemolysis (Kaplan et al, ; Moiz, Nasir, Khan, Kherani, & Qadir, ).…”

Section: Introductionmentioning

confidence: 99%

“…Later, it was expanded to other regions of China for its clinical significance in the identification of neonatal jaundice and acute or chronic hemolysis (Kaplan et al, ; Moiz, Nasir, Khan, Kherani, & Qadir, ). In China, the routine assays for G6PD NBS screening are based on the semiquantitative G6PD activity fluorescence test first (Howson et al, ), and then confirmed by nitroblue tetrazolium (NBT) G6PD/6PGD test (Gosálvez et al, ). The semiquantitative G6PD activity test can accurately identify hemizygous males and homozygous females.…”

Section: Introductionmentioning

confidence: 99%

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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Liu

et al. 2019

Human Mutation

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Liu

et al. 2019

Human Mutation

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“…30 En esta investigación se reporta, por primera vez, la experiencia de la implementación de un programa de tamiz neonatal a nivel nacional para fibrosis quística y los resultados son relevantes puesto que se obtuvieron en un país en vías de industrialización con un complejo sistema de salud y con un elevado número anual de nacimientos, lo que significa un reto para cualquier programa de tamiz neonatal. 31,32 El uso del algoritmo IRT/IRT/ST permitió detectar 202 casos altamente sugestivos de fibrosis quística, con una tasa de prevalencia estimada al nacimiento de 16 por 100,000 recién nacidos tamizados (1:6,273 recién nacidos), con un máximo de 35 por 100,000 recién nacidos en el Estado de México (1:2,895 recién nacidos). Esta cifra no es la prevalencia real al nacimiento, sino que es la definición operacional del algoritmo y representa los casos con elevada probabilidad de tener la enfermedad que requieren ser referidos a evaluación médica especializada.…”

Section: Discussionunclassified

Retos y oportunidades en la implementación del tamiz neonatal para fibrosis quística

et al. 2018

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INTRODUCCIÓN: La detección temprana de la fibrosis quística mediante tamiz neonatal tiene una repercusión clínica positiva; su implementación es compleja y no existe un protocolo universal para llevarla a cabo. La cuantificación del tripsinógeno inmunorreactivo es el inicio de todos los algoritmos actuales de tamiz neonatal.OBJETIVO: Reportar los resultados preliminares de la aplicación de un algoritmo de tamiz neonatal para fibrosis quística en la Secretaría de Salud de México.MATERIAL Y MÉTODOS: Estudio retrospectivo de los resultados de la aplicación de un algoritmo de tamiz neonatal consistente en la cuantificación del tripsinógeno inmunorreactivo (IRT/IRT) seguida de la prueba del sudor para la detección de fibrosis quística en el marco del programa de tamiz metabólico neonatal de la Secretaría de Salud de México.RESULTADOS: Se obtuvieron 1,267,122 muestras aptas para el procesamiento bioquímico de sangre en papel filtro de 1,273,727 recién nacidos; 3,216 muestras resultaron con valores sanguíneos de tripsinógeno inmunorreactivo superiores al percentil 99.5. Solo en 54% de los casos se logró tomar la segunda muestra de tripsinógeno inmunorreactivo en el tiempo adecuado y se practicaron 1,787 pruebas de sudor. Se identificaron 202 casos altamente sugestivos de fibrosis quística (1:6,273 recién nacidos) que se enviaron para seguimiento médico. La gran cantidad de muestras extemporáneas favoreció el gran número de pruebas del sudor. Estos resultados permiten identificar las principales dificultades que enfrenta la implementación de este tamiz mediante el algoritmo IRT/IRT/ST.CONCLUSIÓN: La incorporación de este primer algoritmo de detección de fibrosis quística al programa de tamiz neonatal en México representa un logro, susceptible de perfección.PALABRAS CLAVE: Tamiz neonatal; fibrosis quística; CFTR; tripsinógeno inmunoreactivo; IRT.

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“…Even if NBS is a considered as one of the major public health realization [51], unfortunately many countries in low resource-areas do not have a structured national program. While the incidence of congenital disorders is estimated at 8 million of annual birth worldwide, only onethird of neonates are receiving NBS for at least one inborn disorder [52]. In addition to the lack of funding and of specialized human resources, NBS advocates face many barriers to NBS implementations.…”

Section: Nbs In Low-resource Areas: An Overviewmentioning

confidence: 99%

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Bouvier¹,

Giguère²

2019

obm genet

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Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of tandem mass spectrometry (MSMS) by the end of the 1990's that NBS expansion really took place. MSMS has had a tremendous impact on NBS, but led to heterogeneity in NBS disorders panel between jurisdictions that have introduced new conditions at various rates using different decision-making processes. In addition to disorders tested by MSMS, many programs have included other inherited disorders using various testing methodologies, including cystic

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Universal newborn screening: A roadmap for action

Cited by 43 publications

References 23 publications

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Retos y oportunidades en la implementación del tamiz neonatal para fibrosis quística

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

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