Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Jan-Mar;33(1):19-27.
doi: 10.1016/j.rpped.2014.08.001. Epub 2015 Jan 23.

[Neonatal screening for hemoglobinopathies in São Carlos, São Paulo, Brazil: analysis of a series of cases]

[Article in Portuguese]
Camila de Azevedo Silva  1 , Letícia Botigeli Baldim  1 , Geiza César Nhoncanse  1 , Isabeth da Fonseca Estevão  2 , Débora Gusmão Melo  3
Affiliations

[Neonatal screening for hemoglobinopathies in São Carlos, São Paulo, Brazil: analysis of a series of cases]

[Article in Portuguese]
Camila de Azevedo Silva et al. Rev Paul Pediatr. 2015 Jan-Mar.

Abstract

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.

Keywords: Assistência à saúde; Delivery of health care; Hemoglobinopathies; Hemoglobinopatias; Neonatal screening; Triagem neonatal.

PubMed Disclaimer

Conflict of interest statement

Conflicts of interest The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1. Information received by mothers in the maternity hospital on neonatal screening.
Figure 2
Figure 2. Information received by mothers in Primary Health Care related to the neonatal screening test.
Figure 3
Figure 3. Information related to genetic information that mothers had.
Figura 1
Figura 1. Informações recebidas pelas mães na maternidade sobre a triagem neonatal.
Figura 2
Figura 2. Informações recebidas pelas mães na Atenção Primária à Saúde relacionadas ao teste de triagem neonatal.
Figura 3
Figura 3. Informações relacionadas à orientação genética que as mães tinham.
See this image and copyright information in PMC

References

    1. Wilson JM, Jungner YG. Principles and practice of mass screening for disease. Bol Oficina Sanit Panam. 1968;65:281–393. - PubMed
    1. Estado de São Paulo . Portaria GM/MS 822; 2001. http://dtr2001.saude.gov.br/sas/PORTARIAS/Port2001/GM/GM-822.htm
    1. Brasil - Ministério da Saúde, Secretaria de Atenção à Saúde - departamento de atenção especializada . Manual de normas técnicas e rotinas operacionais do programa nacional de triagem neonatal. 2(nd) ed. Brasília: Ministério da Saúde; 2004.
    1. Leão LL, Aguiar MJ. Newborn screening: what pediatricians should know. J Pediatr (Rio J) 2008;84(4):S80–S90. - PubMed
    1. Brasil - Ministério da Saúde . Portaria nº 2.829, de 14 de dezembro de 2012. Inclui a Fase IV no Programa Nacional de Triagem Neonatal (PNTN) Brasília: Ministério da Saúde; 2012.