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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Camila de Azevedo Silva [1] ; Letícia Botigeli Baldim [2] ; Geiza César Nhoncanse [3] ; Isabeth da Fonseca Estevão [4] ; Débora Gusmão Melo [5]
Total Authors: 5
[1] Universidade Federal de São Carlos - Brasil
[2] Universidade Federal de São Carlos - Brasil
[3] Universidade Federal de São Carlos - Brasil
[4] Secretaria Municipal de Saúde de São Carlos - Brasil
[5] Universidade Federal de São Carlos - Brasil
Total Affiliations: 5
Document type: Journal article
Source: Revista Paulista de Pediatria; v. 33, n. 1, p. 19-27, 2015-03-00.

OBJECTIVE: To analyze the neonatal screening program for hemoglobinopathies in São Carlos, Southeast Brazil, by investigating a series of cases in which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at the hospital and at primary health care, in addition to information related to genetic counseling. METHODS: 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. RESULTS: Of 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 the hospital, 118 mothers (99.2%) received information about where to go to collect the test and 115 (96.6%) were informed 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's physician was not informed about the screening test results. CONCLUSIONS: The neonatal screening program needs further improvement. In both scenarios investigated, health professionals demonstrated a lack of training in providing information to mothers and families. (AU)

FAPESP's process: 12/20768-8 - Evaluation of neonatal screening program for hemoglobinopathies in São Carlos, SP
Grantee:Camila de Azevedo Silva
Support Opportunities: Scholarships in Brazil - Scientific Initiation