Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel <i>CFTR</i> gene variants

Ibarra-González, Isabel; Campos-Garcia, Felix-Julián; Herrera-Pérez, Luz del Alba; Martínez-Cruz, Patricia; Moreno-Graciano, Claudia-Margarita; Contreras-Capetillo, Silvina-Noemí; León-Burgos, Verónica; Maldonado-Solis, Felipe-Angel; Alcántara-Ortigoza, Miguel Ángel; Ángel, Ariadna González del; Vela-Amieva, Marcela

doi:10.1177/0969141317722808

Cited by 9 publications

(11 citation statements)

References 28 publications

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“…En el caso de Yucatán en el periodo analizado no se registraron casos; sin embargo, se sabe que la fibrosis quística en ese estado tiene una prevalencia de 1:13,724. 33 En Campeche, Coahuila y Zacatecas tampoco se han registrado casos, pero en estos estados la tasa de falla es elevada. Cuadro 2…”

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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Section: Discussionunclassified

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

et al. 2018

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“…Accurate measurements of the carrier frequency of PVs that can be detected by sequencing are also required for accurate RCRs. For example, a CF screening program in Yucatan, Mexico 12 screened 96,071 consecutive newborns by sequencing their CFTR genes and ascertained 7 patients with a firm diagnosis of CF, for an incidence of 1/13,724, and carrier frequency = 1/59 (0.017) (Appendix C ). Upon sequencing of the 14 CFTR genes in these 7 patients, 9 of the 14 (64%) PVs were seen, giving a carrier frequency of detectable PVs = 0.64 × 1/59 = 1/92 (0.011).…”

Section: Factors Affecting the Accuracy Of Rcrsmentioning

confidence: 99%

“…Calculating residual risks for being a carrier of CF in an individual from Yucatan. 12 To determine carrier frequency from incidence, Incidence of CF = 7/96,071 = 1/13,724 = 0.000073 Frequency of PVs responsible for CF = √0.000073 = 0.0085 by Hardy‐Weinberg equation (Appendix B ) Carrier frequency ≅ 2 × 0.0085 = 0.017 …”

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Challenges in providing residual risks in carrier testing

2021

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The authors take responsibility for the presentation and publication of the commentary, have been fully involved at all stages of publication and presentation development, and are willing to take public responsibility for all aspects of the work. All individuals included as authors and contributors who made substantial intellectual contributions to the literature analysis and publication or presentation development are listed appropriately. The role of the sponsor in the design, execution, analysis, reporting, and funding is fully disclosed. The authors' personal interests, financial or non-financial, relating to this research and its publication have been disclosed.What's already known about this topic? What does this study add? There has been no published discussion of the methods and uncertainties involved in the calculation of residual risk that are discussed here. There has been much discussion of using ancestry in genetic testing but this review highlights the serious problems that arise in calculating and assigning ancestry-specific residual carrier risks at specific disease loci.  The review questions what has not been questioned before: Is there clinical utility to providing what are mostly imprecise residual carrier risks.

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“…CF affects 1 in 3500 newborns worldwide with a higher disease prevalence in Caucasian and Ashkenazi Jews populations [ 1 , 5 ]. The Mexican Association of Cystic Fibrosis and other research groups estimate a disease prevalence in Mexico between 1 in 5000–8500 newborns [ 6 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

Frequency of allele variations in the CFTR gene in a Mexican population

et al. 2021

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Background Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even undetermined in some countries like Mexico. Methods In this study, the allele frequencies of 361 variants in the CFTR gene were investigated in 1455 Mexicans without a CF or CFTR-related disorders (CFTR-RD) diagnosis. We also performed a statistical comparative analysis against allele frequencies of different populations to measure genetic differences in the prevalence of CFTR variants. Results In the vast majority of cases, the allele frequencies of this cohort were comparable to those found in other populations. However, some variants displayed significant differences in their allele frequencies when compared with European and African populations. Conclusions This study provides information about CFTR variants to predict the prevalence of CF in Mexico and uncover other unknown but frequent pathogenic variants in the country. Additionally, other CFTR-RD variants have also been studied using population data of the same CFTR variants. Studies like this could help develop a regional molecular diagnostic screen to optimize the medical care of CF patients.

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Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants

Abstract: Cystic fibrosis birth prevalence in southeastern Mexico is 1:13,724 newborns. Immunoreactive trypsinogen blood concentration is influenced by gestational age and by the time of sampling. The spectrum of CFTR gene variants in Yucatan is heterogeneous.

Cited by 9 publications

References 28 publications

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

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

Challenges in providing residual risks in carrier testing

Frequency of allele variations in the CFTR gene in a Mexican population

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