Evidence map›Paper›PMID 32185651›Full record

ArticleMolecular diagnosis & therapy2020

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.

Thaiane Rispoli, Grazielle M Rodrigues, Simone M de Castro, Mayara J Prado, Cláudia M D da Silva, Tarciana Grandi, Gilberto B Fischer, Leonardo A Pinto, Paulo J C Maróstica, Laís C R Scortegagna and 3 more

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Article in Molecular diagnosis & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 7 institutions in 1 country.

Thaiane RispoliPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. thaianerispoli@gmail.com.
Grazielle M RodriguesCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul (SES-RS), Porto Alegre, Rio Grande do Sul, Brazil.
Simone M de CastroFaculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Mayara J PradoPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Cláudia M D da SilvaCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul (SES-RS), Porto Alegre, Rio Grande do Sul, Brazil.
Tarciana GrandiCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul (SES-RS), Porto Alegre, Rio Grande do Sul, Brazil.
Gilberto B FischerHospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Leonardo A PintoHospital São Lucas da PUCRS, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Paulo J C MarósticaHospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Laís C R ScortegagnaPrograma de Pós-Graduação em Ciências Pneumológicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Helena T MocelinServiço de Referência em Triagem Neonatal, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
José Eduardo VargasInstituto de Ciências Biológicas, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil. josevargas@upf.br.
Maria L R RossettiPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Universidade Federal do Rio Grande do Sul · BRGoverno do Estado do Rio Grande do Sul · BRSecretaria da Saúde · BRHospital de Clínicas de Porto Alegre · BRHospital Ernesto Dornelles · BRPontifícia Universidade Católica do Rio Grande do Sul · BRUniversidade de Passo Fundo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false- positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high sensitivity and that could be incorporated into the routine of newborn screening, complementing the current existing protocol used in our public health institution.

methodsA mini-sequencing assay was standardized using single-base extension in a previously genotyped control sample. This strategy was validated in a Brazilian cohort of CF patients by Sanger sequencing.

resultsThe inclusion of the 25 variants in the current newborn screening program increased the identification rates of two alleles from 33 to 52.43% in CF patients. This new approach was able to detect a total of 37 variants, which represents 93.01% of all mutated alleles described in the last CF Brazilian Register.

conclusionsMini-sequencing for the simultaneous detection of 25 CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs.

Indexed as

AllelesGenetic TestingMutationNeonatal ScreeningAmino Acid SubstitutionBrazilCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenotypeHumansInfant, NewbornMultiplex Polymerase Chain ReactionSequence Analysis, DNACFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID32185651
OpenAlexW3010840013

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.