Guthrie test

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.

File:Gutherie card icon.jpg

Gutherie card

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.

Some Recent Findings

Newborn hearing screening and genetic testing in 8974 Brazilian neonates.^[1]"We have found 17 individuals who failed in transient otoacoustic emissions (TOAE). Among them, we detected 4 homozygous newborns for 35delG mutation and 3 individuals with A827G mutation in the MTRNR1 mitochondrial gene."

Whole genome microarray analysis, from neonatal blood cards. ^[2]] "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."

Routine Screened Disorders

This list may differ between countries.

Phenylketonuria (PKU)
Biotinidase Deficiency (OMIM)
Congenital Adrenal Hyperplasia (CAH) (OMIM)
Congenital Hypothyroidism (CH)
Congenital Toxoplasmosis
Cystic Fibrosis (CF) (OMIM)
Galactosemia (GAL) (OMIM)
Homocystinuria (OMIM)
Maple Syrup Urine Disease (MSUD) (OMIM)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (OMIM)
Toxoplasma gondii IgM antibodies^[3]

International Data

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

References

↑ <pubmed>20538352</pubmed>
↑ <pubmed>19624846</pubmed> | BMC
↑ 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