Neonatal screening program for hemoglobinopathies in the city of São Carlos, state of São Paulo, Brazil: analysis of a series of cases

Guthrie test: pregnant women's perception during prenatal care

“…This finding reveals the importance of clarifying about the genetic pattern of the disease and the differences between disease and trait. 10 A research with 171 professionals of the nursing team, who worked at a Maternal-Child Units showed that 99% and 96% of them mentioned about Down syndrome and Sickle Cell Disease, respectively, as a genetic abnormalities mostly known to them, 11 corroborating the data of our research. The authors also showed lack of preparation of the team, especially about the family approach of children with genetic disorders.…”

“…The authors also showed lack of preparation of the team, especially about the family approach of children with genetic disorders. 10 It was evident in this study that a higher demand was necessary for more information about Guthrie test. A previous study carried out in Belém city, with 200 newborn parents or caregivers showed that, although most of them did not have good understanding about Guthrie test, 56% of the participants said they did not need any further clarification.…”

“…8 Another research revealed that 93.3% (n=111) of the mothers referred in receiving information from the nurse and only 5.9% (n=7) from the physician. 10 Although the pregnant women have considered the quality of the information as good, they presented misunderstanding about specific items of the exam. The lack of bond between the professional nurse and the pregnant woman, as well as the absence of an adequate location for an active communication brings limitations to the development of the prenatal care, making woman into a passive human being and not a protagonist of the process of being a mother.…”

O processo e a prática do aconselhamento genético no Brasil: uma revisão de escopo

“…Por outro lado, a região Norte, considerada a mais carente do país, necessita de maior investimento em saúde pública e em pesquisa, o que se explicita nos estudos escassos oriundos dessa região, um possível indicador de desigualdade (BARBIANI et al, 2016). Em relação às patologias que são abordadas durante o processo de AG, um grande número (n=9) de trabalhos estava focado nas hemoglobinopatias (BARACIOLI et al, 2018;MENESES et al, 2015;SILVA et al, 2015;ACOSTA et al, 2013;FERREIRA et al, 2012;GUIMARÃES et al, 2010;RAMALHO et al, 2007;RAMALHO et al ,2007;DINIZ et al, 2005) e no câncer hereditário (n=6) (PALMERO et al, 2016;ASHTON PROLLA et al, 2015;VIEIRA et al, 2014;SILVA et al, 2013;CUSTÓDIO et al, 2013;PALMERO et al, 2007).…”

“…Entre esses profissionais citados estão enfermeiros (SILVA et al, 2015;SILVA et al,2013;PALMERO et al, 2007;PALMERO et al, 2016;MICHELETTO et al, 2014;MENEZES et al, 2015;FLÓRIA-SANTOS et al, 2006;ACOSTA et al, 2013), psicólogos (GUIMARAES et al, 2010MICHELETTO et al, 2014;PALMERO et al, 2016;ASHTON-PROLLA et al, 2015;SCHULLER-FACCINI et al, 2014) assistente social (GUIMARAES et al,2010;MICHELETTO et al, 2014) biólogos (MICHELETTO et al, 2014).…”