Related Experiment Video
Updated: Aug 16, 2026
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Neonatal biochemical screening for disease
1Queensland Health Pathology Service, Neonatal Screening Laboratory, Pathology Department, Royal Brisbane Hospital Campus, Herston Road, Herston, Queensland 4029, Australia.
Insights
Neonatal screening using dried blood spots is a public health initiative. Advances in biochemical testing methods have increased the number of detectable diseases and improved screening accuracy.
Area of Science:
- Biochemistry
- Public Health
- Neonatal Medicine
Background:
- Neonatal screening via dried blood spot biochemical testing is a global public health practice.
- Screening protocols vary regionally due to ethnic, economic, and political factors.
- Established criteria guide the selection of diseases for neonatal screening.
Purpose of the Study:
- To review the evolution and current state of neonatal screening practices.
- To highlight advancements in biochemical testing methodologies.
- To discuss the range of diseases included in neonatal screening programs.
Main Methods:
- Review of established neonatal screening practices and historical methods.
- Analysis of biochemical testing techniques including bacterial inhibition assays, spectrophotometry, fluorometry, immunoassays, and tandem mass spectrometry.
- Examination of criteria for disease selection in screening programs.
Main Results:
- Screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is widespread in Western countries, with proven financial benefits.
- Other screened conditions include galactosemia, cystic fibrosis, and hemoglobinopathies, though financial benefits are not always established.
- Technological advancements have enhanced automation and specificity in neonatal screening.
Conclusions:
- Neonatal screening has evolved significantly over 40 years, expanding the scope of detectable diseases.
- Modern methods like tandem mass spectrometry offer greater accuracy and efficiency.
- Continued development in biochemical testing promises further improvements in early disease detection and management.
Background:
The practice of screening the neonatal population for certain diseases by biochemical testing of a dried blood spot is an established public health initiative in many countries. The diseases for which screening is done vary from region to region, based on ethnic, financial and political considerations. Criteria have been established to identify diseases suitable for neonatal screening.
Diseases Screened:
In Western countries, screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) has been introduced throughout. Subsequently, cost-benefit analysis has confirmed the existence of a financial benefit. Other diseases screened for in some regions include galactosemia, aminoacidemias and organic acidemias, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency, hemoglobinopathies, glucose-6-phosphate dehydrogenase deficiency, and Duchenne muscular dystrophy, although in no case has a clear financial benefit been established.
Conclusions:
Since the introduction of neonatal screening over 40 years ago, new methods have resulted in an increase in the number of diseases amenable to screening, better automation and greater specificity. Methods currently used include growth of an inhibited bacterial auxotroph (the original phenylalanine (phe) method of Dr. Robert Guthrie), spectrophotometry, fluorometry, immunoassay, and tandem mass spectrometry with electrospray ionization.
Related Concept Videos
02:46Genetic Screens
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 result in visible changes...
01:20Inborn Errors of Metabolism