Guthrie test
Embryology - 14 Jun 2024 Expand to Translate |
---|
Google Translate - select your language from the list shown below (this will open a new external page) |
العربية | català | 中文 | 中國傳統的 | français | Deutsche | עִברִית | हिंदी | bahasa Indonesia | italiano | 日本語 | 한국어 | မြန်မာ | Pilipino | Polskie | português | ਪੰਜਾਬੀ ਦੇ | Română | русский | Español | Swahili | Svensk | ไทย | Türkçe | اردو | ייִדיש | Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations) |
Introduction
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.
Some Recent Findings
|
More recent papers |
---|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Guthrie test <pubmed limit=5>Guthrie test</pubmed> Search term: heel prick test <pubmed limit=5>heel prick test</pubmed> |
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[5]
Australia
NSW Newborn Screening Programme
Each year test more than 90,000 babies and detects about 90 who need urgent assessment and treatment. In NSW and Victoria, the bloodspot cards are currently stored indefinitely.
- Phenylketonuria (PKU) - 1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.
- Primary congenital hypothyroidism - 1 in 3,500 live births (about 26 babies per year). It is caused by the absence or abnormal formation or function of the thyroid gland. This causes growth and intellectual disability if not treated. Medication with thyroid hormone started early, results in normal growth and development.
- Cystic Fibrosis (CF) - 1 in 2,500 live births (about 34 babies per year). Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. Newborn bloodspot screening detects about 95% of babies with CF but also detects a few babies who may only be healthy carriers. For these babies a sweat test at about six weeks of age determines whether the baby has CF or is a healthy carrier.
- Galactosaemia - 1 in 40,000 births (about 1-3 cases per year). Babies cannot process galactose, a component of lactose. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week is life saving.
- Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.
Potential uses and access of stored bloodspots
- Identified cards may be used for family benefit or research and only with separate consent obtained before testing.
- Non-identifiable cards (identifiers permanently removed) may be used for research approved by a Health Research Ethics Committee – consent is not required.
- Parents have a right to access their child’s information. Other access requires parental consent except where there is a court order, to date this has not occurred.
Genetics services in NSW - coordinated by the NSW Genetics Service Advisory Committee, which is supported by the Statewide Services Development Branch of the Strategic Development Division, NSW Department of Health. (Information from NSW Health - Newborn Bloodspot Screening Policy 13-Nov-2006)
- Links: NSW Genetics Health
USA
State laws mandate that blood be drawn from all newborn infants to screen for health-threatening conditions.
References
- ↑ Newborn babies will be tested for four more disorders, committee decides BMJ 2014; 348 doi: http://dx.doi.org/10.1136/bmj.g3267 (Published 13 May 2014) BMJ 2014;348:g3267 UK National Screening Committee
- ↑ <pubmed>21963384</pubmed>
- ↑ <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
<pubmed>21963384</pubmed> <pubmed>19103854</pubmed> <pubmed>507913</pubmed>| PMC1545774
Search PubMed
Search Pubmed: Guthrie test | neonatal blood spot test
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
Australia
United Kingdom
- Screening Programmes
- UK National Screening Committee
- UK National Screening Committee - Meetings
- newborn blood spot
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 14) Embryology Guthrie test. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Guthrie_test
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G