Neonatal Diagnosis

Introduction

In the early 1950's Virginia Apgar published the research article that was the basis of a simple diagnostic test, the 10-point Apgar score, for neonatal well-being at birth that continues to be used today.

There are a number of different neonatal screening (newborn screening) programs in different countries testing for various "common" abnormalities and infections. In addition to the Gutherie test there are also physical tests for hip displasia and a growing number of countries testing of newborn hearing.

APGAR test
Gutherie test
Hearing test
Electrocardiogram (ECG/EKG)
Tandem mass spectrometry (MS/MS)

can screen for PKU and many other diseases simultaneously (up to 21 metabolic diseases).^[1]

References

↑ The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Cipriano LE, Rupar CA, Zaric GS. Value Health. 2007 Mar-Apr;10(2):83-97. {http://www.ncbi.nlm.nih.gov/pubmed/17391418 PMID: 17391418]

Search PubMed: neonatal diagnosis | neonatal screening

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Cite this page: Hill, M.A. (2026, October 20) Embryology Neonatal Diagnosis. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Neonatal_Diagnosis

What Links Here?

[1] The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Cipriano LE, Rupar CA, Zaric GS. Value Health. 2007 Mar-Apr;10(2):83-97. {http://www.ncbi.nlm.nih.gov/pubmed/17391418 PMID: 17391418]

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