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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos

2015; Elsevier BV; Volume: 33; Issue: 1 Linguagem: Inglês

10.1016/j.rpped.2014.08.001

ISSN

1984-0462

Autores

Camila de Azevedo Silva, Letícia Botigeli Baldim, Geiza César Nhoncanse, Isabeth da Fonseca Estevão, Débora Gusmão Melo,

Tópico(s)

Prenatal Screening and Diagnostics

Resumo

To analyze the neonatal screening program for hemoglobinopathies in Sao Carlos, Sotheast Brazil, by investigating a series of cases which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at hospital and at primary health care, in addition to information related to genetic counseling.A descriptive study that enrolled 119 mothers, accounting for 73% of all children born between 2010 and 2011 with abnormal results of neonatal screening for hemoglobinopathies. The mothers completed a questionnaire that assessed the information received at hospital and primary health care, and issues related to genetic counseling. Descriptive statistics was performed.Among the 119 participating mothers, 69 (58%) had children with sickle cell trait, 22 (18.5%) with hemoglobin C trait, 18 (15.1%) with alpha thalassemia trait and, in 10 cases (8.4%), the result was inconclusive. At hospital, 118 mothers (99.2%) received information about where to go to collect the test and 115 (96.6%) were oriented about the correct time to collect the test. Only 4 mothers (3.4%) were informed about which diseases are investigated and the risks of not performing the screening. Seventeen mothers (14.3%) recognized the difference between trait and disease, and 42 (35.3%) considered that a positive screening test could have implications for future pregnancies. In 70 cases (58.8%), the child physician was not informed about the screening test results.The neonatal screening program need further improvement. In both scenarios investigated, health professionals demonstrated a lack of training in guiding mothers and families.

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