Nós não devemos deixá-los de lado e pensarmos neles como algo inútil ou tratá-los como "curiosidades" ou "casualidades". Nenhum deles é desprovido de significado; e não há nenhum que não possa proporcionar um excelente conhecimento se apenas pudermos responder à questão: por que é raro? Ou, sendo raro, por que, neste caso, aconteceu? JAMES PAGET, Lancet, 2:1017, 1882 Aos meus pais, Maria Neusa e Florisvaldo Oliveira, pelo incentivo ao ensino e principalmente por todo carinho e atenção, ao meu irmão Vinicius Igor Oliveira e a todos meus familiares, por todo apoio.Aos meus amigos, pelo "suporte", obrigada!
ResumoOs defeitos congênitos resultam de causas genéticas e não genéticas, afetam cerca de 3 a 5% dos recém-nascidos e são reconhecidos como uma das maiores causas de morbidade e mortalidade no primeiro ano de vida, além de serem a causa de muitas mortes embrionárias e fetais. Possuem etiologia e fatores de risco variados, muitos ainda desconhecidos. Dados
AbstractBirth defects, resulting from genetic and non-genetic causes, affect about 3 to 5% of newborns and are recognized as a major cause of morbidity and mortality within the first year of life, as well as being the cause of many embryonic and fetal deaths. Not infrequently the varied etiology and risk factors remain unknown. Brazilian epidemiological data are scarce.The study of epidemiological factors may increase knowledge about these defects and make prevention strategies and genetic counseling possible for affected families. This work constitutes a prospective clinical genetic study of all newborn and stillborn infants with birth defects seen over one year in Hospital de Base in São José do Rio Preto, Sao Paulo, in order to estimate the prevalence, characterize the disease types, diagnoses or diagnostic categories and evaluate possible causes and consequences of the defects. Karyotypic analysis, a physical assessment, photographic records, an analysis of the patients' medical records and the collection of additional information with the family was performed for each infant. The study assessed 103 newborn and 7 stillborn subjects. The prevalence of birth defects was of 2.8%.A specific diagnosis was suggested in 82% of cases. Genetically-related birth defects were more prevalent than those with non-genetic etiology. Infants with multifactorial inheritance patterns were the most common (29%), followed by heterogeneous etiology (22%), monogenic inheritance patterns (19%), unknown (13,5%), chromosomal etiologies (12%) and environmental factors (4.5%). Maternal age, parental consanguinity and family susceptibility (the presence of defects in the family) were some of the identified risk factors. Most affected infants were premature and the most commonly observed consequences were prolonged hospital stays and death. Hence, birth defects are frequent in the population; several causes are involved with the genetic component being one of the most common, and the consequences can be severe. Knowledge of such defects makes the development of therapeutic and prevent...