Acesso à avaliação genética e ao tratamento cirúrgico de fendas orais não sindrômicas no Sistema Único de Saúde: uma análise multicêntrica

Abstract

Oral clefts (OC) are complex and prevalent congenital anomalies. Associated dysmorphisms varies from 3% to 63% and may change the status from non-syndromic OC (NSOC) to syndromic OC. The diagnosis established through genetic assessment allows oriented treatment and genetic counseling. Treatment is longitudinal and multidisciplinary through the health system levels. Timely primary surgery (cheiloplasty and palatoplasty) is essential for successful rehabilitation. A network of 30 craniofacial hospitals accredited by the Ministry of Health (CFAH) provides specialized treatment in Brazil. However, throughout the country, non-CFAH also operate because of shortfall. This study aimed to investigate the access of persons with NSOC to genetic assessment and surgery through CFAH and non-CFAH. It was a quantitative, retrospective, observational, multicenter study with participants with NSOC, followed-up from 2008 until 2019 in two CFAH and two non-CFAH members of Brazil's Craniofacial Project. Data collection occurred during outpatient visits using the CranFlow platform that feeds the Brazilian Database on Craniofacial Anomalies (BDCA). Genetic assessment and cheiloplasty performed after 12 months-old and palatoplasty after 18 months-old were classified as delayed. Statistics comprised descriptive analysis, prevalence ratio (PR), and Chi-square of independence test (χ2) to assess associations between the outcomes (delay in genetic assessment, delay in cheiloplasty and delay in palatoplasty) and the independent variables (hospital, socioeconomic and clinical characteristics). A 95% confidence interval was adopted. Information on 840 participants with NOC fed the BDCA after genetic assessment. The proportion of participants from CFAH and non-CFAH was 2:1, with the majority attending hospitals in the Northeast of Brazil. The age at admission to the BDCA ranged from 1 day-old to 61 years old, children up to 12 months old predominance. Most lived outside the city where the hospital is located, had low-income families and parents with low education. Cleft lip and palate (CLP) occurred in 54.1%, cleft lip (CL) in 25.4%, and cleft palate (CP) in 20.5% of cases. CLP predominated in males and CP in female; unilateral over bilateral clefts, and left-sided over right-sided clefts (p<0.00). 46.9% of the sample experienced delay to access first genetic assessment. For 509 (60.6%) cases, it was possible to assess the access to surgical treatment, 261 (51.3%) of whom had surgical delay. Participants with CP and CLP had a significant increase in the prevalence of delayed surgery compared to participants with CL. For 431 participants, 666 primary surgeries were required. Among them, 418 surgeries were overdue, 219 of which were palatoplasties. There was a statistically significant increase in the prevalence of participants who needed palatoplasty compared to those who needed cheiloplasty. The analysis of the barriers to access to genetic assessment and primary surgery shows a higher prevalence of delay for participants followed up in non-CFAH, with parents with low levels of education and living outside the hospital's location. Be followed-up in hospitals located in the Northeast region and have short income family were further associated factors to surgical delay. Clinical-genetics characteristics of the sample corroborate the literature on the epidemiology of NSOC around the World. Overall, half of the participants included in this study had genetic assessment and/or surgical rehabilitation delayed. Differences were found in the access of patients with NSOC to genetic assessment and surgery, with a greater disadvantage for those followed at non-CFAH and needing palatoplasty. Patients with NSOC experienced many barriers to access genetic assessment and surgery through the Brazilian Unified Health System. These results highlight and strengthen the need to establish a transversal health policy, having the CFAH as a reference network able to address the unmet health needs of this population.