Neonatal screening for congenital hypothyroidism

e202101010

Authors

  • Rosa Mª López Galera Laboratorio de Cribado Neonatal. Sección de Errores Congénitos del Metabolismo (IBC). Servicio de Bioquímica y Genética Molecular. Hospital Clínic de Barcelona. Barcelona. España. / Comisión de Diagnóstico Perinatal de la Sociedad Española de Medicina del Laboratorio. España.
  • Daisy Castiñeiras Ramos Laboratorio de Metabolopatías. Hospital Clínico Universitario de Santiago de Compostela. A Coruña. España. / Comisión de Diagnóstico Perinatal de la Sociedad Española de Medicina del Laboratorio. España.
  • Hugo Rocha Newborn Screening, Metabolism and Genetics Unit. Human Genetics Department. Instituto Nacional de Saúde Doutor Ricardo Jorge de Oporto. Oporto. Portugal. / Comisión de Diagnóstico Perinatal de la Sociedad Española de Medicina del Laboratorio. España.

Keywords:

Thyroid hormones, Morbidity, Congenital hypothyroidism, Neonatal screening, Strategies for determining congenital hypothyroidism, Bibliographic databases

Abstract

Background: Thyroid hormones are essential for normal brain development, with congenital hypothyroidism (CH) being the most frequent cause of mental retardation that can be prevented. The early detection of CH is of primary interest in Public Health and Preventive Medicine and is included in neonatal screening programs. In newborns detected and starting treatment in the first days of life, morbidity, mortality and possible disabilities associated with the disease are reduced. The objective of the review was to highlight the relevance of HC detection programs, to know the current situation at the national and global level and the challenges and future prospects.
Methods: The review was based on the selection of studies and reviews of the disease and published studies of different screening programs for the detection of CH. As sources of information, bibliographic reference bases, guides and / or protocols of scientific societies, documents of technological evaluation agencies and documents of official organizations have been used.
Results: In all the references consulted, it has been possible to verify based on the cases detected, positive predictive value and prevalences that the early detection of CH has been highly efficient for the diagnosis of the disease.
Conclusions: Neonatal screening for primary CH is an example of success in public health. Lines of research are needed to clarify whether other moderate forms of CH benefit from early detection and treatment.

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References

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Published

2021-01-26

How to Cite

1.
López Galera RM, Castiñeiras Ramos D, Rocha H. Neonatal screening for congenital hypothyroidism: e202101010. Rev Esp Salud Pública [Internet]. 2021 Jan. 26 [cited 2024 Nov. 22];95:14 páginas. Available from: https://ojs.sanidad.gob.es/index.php/resp/article/view/655

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