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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

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Updated: Nov 20, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

[Portuguese Newborn Screening Program.]

Hugo Rocha^1,2, Ana Marcão¹, Carmen Sousa¹

¹Unidade de Rastreio Neonatal, Metabolismo e Genética. Departamento de Genética Humana. Instituto Nacional de Saúde Doutor Ricardo Jorge. Oporto. Portugal.

Revista Espanola De Salud Publica

|January 26, 2021

Summary

This summary is machine-generated.

The Portuguese Newborn Screening Program successfully screens nearly all newborns for 26 disorders, detecting over 2,130 affected infants since 1979. This vital public health initiative demonstrates significant positive impact on population health.

Keywords:

Congenital hypo-thyroidism Cystic fibrosis Metabolic disorders Portuguese newborn screening program Spain

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Area of Science:

Public Health
Genetics
Pediatrics

Background:

Established in 1979, the Portuguese Newborn Screening Program is a publicly funded initiative.
It operates as a non-mandatory program with high implementation, screening approximately 99.9% of Portuguese newborns.
The program initially focused on phenylketonuria (PKU) and has since expanded its scope.

Purpose of the Study:

To provide an overview of the Portuguese Newborn Screening Program's history, scope, and impact.
To highlight the program's success in early detection and intervention for various congenital disorders.
To discuss future perspectives for enhancing the program's public health value.

Main Methods:

The program screens for 26 disorders, including inborn errors of metabolism, congenital hypothyroidism, and cystic fibrosis.
Sample collection is recommended on the third day of life, with treatment commencing around the tenth day.
All tests are conducted at a single national laboratory processing approximately 88,000 samples annually.

Main Results:

Over 41 years, more than 3,800,000 newborns have been screened.
The program has identified and provided care for 2,130 affected newborns.
The screening panel currently includes 26 critical congenital disorders.

Conclusions:

The Portuguese Newborn Screening Program has had a substantial positive impact on population health.
The program's high coverage and early detection contribute to improved outcomes for affected infants.
Future efforts will focus on optimizing existing screenings and evaluating the addition of new disorders.