Banca de QUALIFICAÇÃO: AMANDA ALVES FEITOSA BATISTA

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : AMANDA ALVES FEITOSA BATISTA
DATE: 31/10/2022
TIME: 14:30
LOCAL: Faculdade de Medicina
TITLE:

Genetic assessment and surgical treatment of non-syndromic oral clefts: a national multicenter analysis.

KEY WORDS:

Orofacial Cleft, genetics, cheiloplasty, palatoplasty.

PAGES: 50
BIG AREA: Ciências Biológicas
AREA: Genética
SUBÁREA: Genética Humana e Médica
SUMMARY:

Background: Oral cleft (OC) is a common malformation with an estimated prevalence of 1 out of every 700 births. The diagnosis of non-syndromic oral cleft (NSC) is not always easy,  since the frequency of dysmorphic signs associated with OC can be as wide as 3% to 63%. This variation is strongly influenced by the methods of ascertainment, especially with regard to the follow-up time of the patient and the examiner’s dysmorphology experience. Detection of dysmorphic features can change the status of the diagnosis from NSC to syndromic OC. Thus, the diagnosis of OC established through genetic assessment, allows not only treatment planning adjusted to the needs of the patient and his/her family, but also genetic counseling. The treatment is multidisciplinary and involves all levels of health care. The specialized team should involve surgeons, speech therapists, dentists, and psychologists working in a coordinated manner. Primary surgery (cheiloplasty and/or palatoplasty) at the appropriate time is crucial for successful rehabilitation. Surgical delay impacts feeding, speech, hearing, dental development, and facial growth resulting in significant morphofunctional sequelae. There is a shortfall in genetic assistance in Brazil. Services and professionals are concentrated in university hospitals (UH) from capitals and large cities. The specialized treatment of OC is delivered through a network of 30 craniofacial anomalies hospitals (CAH) accredited by the Ministry of Health. The geographical distribution of these hospitals is not consistent with the country's territorial extent. Aim: To assess the age at genetic evaluation and cleft surgery are performed in persons diagnosed with NSC in four Brazilian hospitals. Methods: Quantitative, retrospective, observational, multicenter study with convenience sample. The population consisted of persons diagnosed with NSC, seen from 2008 to 2022 in four hospitals associated with Brazil’s Craniofacial Project, two university hospitals (UH) (hospitals A and D) and two HATCA (hospitals B and C), located in capitals cities of the Northeast (C and D) and South (A and B) regions of the country. Data collection was performed during outpatient visits using the CranFlow online tool that feeds the Brazilian Database on Craniofacial Anomalies (BBCA). The genetic evaluation and cheiloplasty performed after 12 months of life and palatoplasty after 18 months, were classified as delayed. The Chi-square and Fisher's Exact Tests with p<0.05 were used for statistics. Results: From 10/01/2008 to 09/07/2021, 853 patients with NSC were seen by medical geneticists in the four study hospitals, and their clinical information entered in the BBAC. Cleft lip and palate (CLP) occurred in 52.0%, cleft lip (CL) in 25.8%, and cleft palate (CP) in 22.2% of cases. CLP has predominated in males, CP in females (p=0.00), and unilateral  over bilateral clefts (p=0.00). The entrance age at BBCA was a day to 61 years old (3.74±8.0). However, 59% of patients had their first genetic evaluation before 12 months. The highest frequency of delay in performing genetic assessment was in CAH (p=0.05) and residents outside the city where the hospital is located (p=0.048). For the analysis of age at cleft surgery, 331/853 (38.8%) patients were excluded because of the absence of information on surgical treatment status. Among the remaining 522 (61.2%), 190 (65.3%) had not had surgery as they were within the acceptable age interval to perform primary surgery adopted in the present study. The remaining 332, were old enough to assess the occurrence of surgical delay. 204 have had surgical delay, 51% of which were followed up in UH (p=0.00). Delayed palatoplasty occurred in 47.5%, followed by cheiloplasty (27%) and both surgeries (25.5%). Low income (p=0.00) and lower educational level of the parents (p=0.00) were predominant in the group with delayed surgery. There were no significant differences between the groups regarding unilateral or bilateral involvement (p=0.57) and being or not being domiciled in the city where the hospital is located (p=0.72). Conclusion: The sample is representative since it corroborates the global literature on the epidemiology of NSC. Most patients had genetic assessment at an appropriate age but had delayed primary surgery. The delay in genetic evaluation predominated in CAH while the delay in primary surgery in UH. Living in the host city of the hospital favored the performance of genetic evaluation at the appropriate age, but did not influence the age at which surgery was performed. The data reinforce the need for integrated genetic assessment and centralization of surgeries in CAH, in addition to expanding the offer of services for specialized care for people with OC in the Unified Health System of Brazil (SUS).

BANKING MEMBERS:
Presidente - 3221982 - ISABELLA LOPES MONLLEO
Interna - 2370894 - MICHELLE JACINTHA CAVALCANTE OLIVEIRA
Externa à Instituição - RAFAELA SCARIOT - UFPR