Abstract：
OBJECTIVE: The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.
METHODS: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered.
RESULTS: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581).
CONCLUSIONS: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.
METHODS: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered.
RESULTS: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581).
CONCLUSIONS: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.
摘要：
目的：当前的研究探讨了口面裂痕（OC）个体的遗传评估的可及性，比较巴西遗传学和治疗中心之间的数据。
方法：这项横断面回顾性研究分析了2008年至2018年间在巴西颅面畸形数据库（BDCA）中注册的1463名OC个体的主要数据，没有年龄或性别选择。直到2023年的研究项目的诊断检查结果被考虑。
结果：在具有典型OC的1463人中，987是非综合征，462例为综合征（SOC），10呈现非典型形式，3例没有指定OC病例。SOC个体获得实验室诊断的平均年龄为8.5岁。值得注意的是,在遗传学中心登记的SOC病例比治疗和康复中心多(37.1%vs.29%,p=0.0015)。那些来自遗传学中心的人平均年龄为7.3岁，而那些来自治疗和康复中心的人经历了平均年龄10.7岁的延误（p=0.0581）。
结论：不考虑起源中心，这些数据突出了诊断延迟和在获得综合征组基因检测方面的挑战.鉴于大多数巴西人口对公共卫生系统的广泛依赖，传播这些数据可以大大有助于形成关于医疗保健获取的知情观点。这些见解可以改善针对OC个人独特需求的公共政策。
方法：这项横断面回顾性研究分析了2008年至2018年间在巴西颅面畸形数据库（BDCA）中注册的1463名OC个体的主要数据，没有年龄或性别选择。直到2023年的研究项目的诊断检查结果被考虑。
结果：在具有典型OC的1463人中，987是非综合征，462例为综合征（SOC），10呈现非典型形式，3例没有指定OC病例。SOC个体获得实验室诊断的平均年龄为8.5岁。值得注意的是,在遗传学中心登记的SOC病例比治疗和康复中心多(37.1%vs.29%,p=0.0015)。那些来自遗传学中心的人平均年龄为7.3岁，而那些来自治疗和康复中心的人经历了平均年龄10.7岁的延误（p=0.0581）。
结论：不考虑起源中心，这些数据突出了诊断延迟和在获得综合征组基因检测方面的挑战.鉴于大多数巴西人口对公共卫生系统的广泛依赖，传播这些数据可以大大有助于形成关于医疗保健获取的知情观点。这些见解可以改善针对OC个人独特需求的公共政策。
