Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

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 wer

SUBMITTER: Silva IMW 

PROVIDER: S-EPMC11662741 | biostudies-literature | 2024 Nov-Dec

REPOSITORIES: biostudies-literature