Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2020-12, Vol.184 (4), p.912-927
• Main Authors: Gil‐da‐Silva‐Lopes, Vera Lúcia, Tacla, Milena Atique, Sgardioli, Ilária Cristina, Vieira, Társis Paiva, Monlleó, Isabella Lopes
• Format: Article
• Language: English
• Subjects: 22q11.2 deletion syndrome; Abnormalities; Anomalies; chromosomal microarray analysis; Chromosome aberrations; Classification; cleft lip; cleft palate; Correlation analysis; Data collection; Etiology; Genetic screening; Genetics; Genotypes; Health care; Orofacial clefts; Phenotypes; Public health; Public policy; R&D; Research & development
• ISSN: 1552-4868; 1552-4876
• DOI: 10.1002/ajmg.c.31852

This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established in 2003, BCFP is a voluntary and cooperative network aiming to investigate the health care of people with these diseases and other craniofacial anomalies. The initiatives and research results are presented in four sections: (a) a comprehensive report of the Brazilian public health system in craniofacial genetics; (b) multicentric studies developed on OFC and 22q11.2 DS; (c) education strategies focused on addressing these conditions for both population and health‐care professionals; and (d) the nosology through the Brazilian Database on Craniofacial Anomalies (BDCA). Since 2006, BDCA uses a standardized method with detailed clinical data collection, which allows for conducting studies on nosology, genotype–phenotype correlations, and natural history; data can also contribute to public policies. Currently, the BDCA stores data on 1,724 individuals, including 1,351 (78.36%) who were primarily admitted due to OFC and 373 (21.63%) with clinical suspicion of 22q11.2 DS. Chromosomal abnormalities/genomic imbalances were represented by 92/213 (43.19%) individuals with syndromic OFC, including 43 with 22q11.2 DS, which indicates the need for chromosomal microarray analysis in this group. The nosologic diversity reinforces that monitoring clinical is the best strategy for etiological investigation. BCFP's methodology has introduced the possibility of increasing scientific knowledge and genetic diagnosis of OFC and 22q11.2 DS to in turn improve health care and policies for this group of diseases.