Access to Genetic Evaluation for Individuals with Orofacial Clefts in Brazil
Author Information
Author(s): Silva Isabela Mayá Wayhs, Tacla Milena Atique, Ribeiro Erlane Marques, Lustosa-Mendes Elaine, Fett-Conte Agnes Cristina, Félix Têmis Maria, Xavier Ana Carolina, Monlleó Isabella Lopes, Gil-da-Silva-Lopes Vera Lúcia
Primary Institution: Universidade Estadual de Campinas (Unicamp)
Hypothesis
This study assesses the accessibility of genetic evaluations for individuals with orofacial clefts in Brazil.
Conclusion
The study highlights delayed diagnosis and challenges in accessing genetic tests for individuals with syndromic orofacial clefts in Brazil.
Supporting Evidence
- 987 individuals were non-syndromic, while 462 were syndromic.
- The average age for accessing laboratory diagnosis was 8.5 years among syndromic individuals.
- More syndromic cases were registered in genetics centers than in treatment centers.
- Individuals from genetics centers accessed diagnosis at an average age of 7.3 years.
Takeaway
This study shows that many kids with facial clefts in Brazil have to wait a long time to get the genetic tests they need.
Methodology
This cross-sectional retrospective study analyzed primary data from 1463 individuals with orofacial clefts registered in the Brazilian Database of Craniofacial Anomalies between 2008 and 2018.
Potential Biases
Potential bias due to the reliance on data from specific centers and the voluntary nature of patient participation.
Limitations
The study faced limitations due to incomplete sociodemographic data and the inability to include all individuals referred for clinical follow-up at the BCFP.
Participant Demographics
The majority of participants were male, aged under six, and from the Northeast region of Brazil.
Statistical Information
P-Value
0.0015
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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