Guthrie test: Difference between revisions

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===Articles===
===Articles===
* Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Whiteman PD, Clayton BE, Ersser RS, Lilly P, Seakins JW. Arch Dis Child. 1979 Aug;54(8):593-8. [http://www.ncbi.nlm.nih.gov/pubmed/507913 PMID: 507913] | [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1545774 PMC1545774]


===Search PubMed===
===Search PubMed===

Revision as of 00:08, 24 April 2010

Introduction

Dr Robert Guthrie

A blood screening test developed by Dr Robert Guthrie (1916-95) at University of Buffalo. The test is carried out on neonatal (newborn) blood for a variety of known genetic disorders.

Blood is collected using a heelprick and spotted onto a test sheet to dry for later testing. Different countries and medical services have different policies on not only what will be tested for but also how long the test card will be kept following analysis. Check your local service for specific information.

Diagnosis Links: Prenatal Diagnosis | pregnancy test | amniocentesis | chorionic villus sampling | ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

Whole genome microarray analysis, from neonatal blood cards. Hardin J, Finnell RH, Wong D, Hogan ME, Horovitz J, Shu J, Shaw GM. BMC Genet. 2009 Jul 22;10:38. PMID: 19624846 | BMC

"Neonatal blood, obtained from a heel stick and stored dry on paper cards, has been the standard for birth defects screening for 50 years. Such dried blood samples are used, primarily, for analysis of small-molecule analytes. More recently, the DNA complement of such dried blood cards has been used for targeted genetic testing, such as for single nucleotide polymorphism in cystic fibrosis. Expansion of such testing to include polygenic traits, and perhaps whole genome scanning, has been discussed as a formal possibility. However, until now the amount of DNA that might be obtained from such dried blood cards has been limiting, due to inefficient DNA recovery technology. ...Together, these data suggest that DNA obtained from less than 10% of a standard neonatal blood specimen, stored dry for several years on a Guthrie card, can support a program of genome-wide neonatal genetic testing."

Guthrie Test Analysis

  • PKU
  • Toxoplasma gondii IgM antibodies[1]

International Data

USA - State laws mandate that blood be drawn from all newborn infants to screen for health-threatening conditions.

References

  1. The national neonatal screening programme for congenital toxoplasmosis in Denmark: results from the initial four years, 1999-2002. Schmidt DR, Hogh B, Andersen O, Fuchs J, Fledelius H, Petersen E. Arch Dis Child. 2006 Aug;91(8):661-5. PMID: 16861484]


Reviews

Articles

  • Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Whiteman PD, Clayton BE, Ersser RS, Lilly P, Seakins JW. Arch Dis Child. 1979 Aug;54(8):593-8. PMID: 507913 | PMC1545774

Search PubMed

Search Pubmed: Guthrie test | heelprick test


External Links

Glossary Links

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Cite this page: Hill, M.A. (2024, March 28) Embryology Guthrie test. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Guthrie_test

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