Neonatal Diagnosis

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Gutherie test

Hearing test


Tandem mass spectrometry (MS/MS)

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


References

  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]

Search PubMed: neonatal diagnosis | neonatal screening



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Cite this page: Hill, M.A. (2024, April 26) Embryology Neonatal Diagnosis. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Neonatal_Diagnosis

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G