OBJECTIVE: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. SOURCES: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. SUMMARY OF THE FINDINGS: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. CONCLUSIONS: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
OBJECTIVE: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. SOURCES: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. SUMMARY OF THE FINDINGS: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. CONCLUSIONS: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Authors: Mariela Larrandaburu; Ursula Matte; Ana Noble; Zully Olivera; Maria Teresa V Sanseverino; Luis Nacul; Lavinia Schuler-Faccini Journal: J Community Genet Date: 2015-05-29
Authors: Letícia Pinto Rodrigues; Sarah Cristina Sato Vaz Tanaka; Vanderlei José Haas; Valéria Cardoso Alves Cunali; Alessandra Bernadete Trovó de Marqui Journal: Rev Bras Ter Intensiva Date: 2019-05-23