|Embryology - 19 Nov 2018 Expand to Translate|
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|Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.|
- 1 Introduction
- 2 Some Recent Findings
- 3 Routine Screened Disorders
- 4 Australia
- 5 USA
- 6 References
- 7 External Links
- 8 Glossary Links
IntroductionGuthrie test (Newborn Blood Spot Screening, "Heel Prick" test) is a neonatal blood screening test originally developed by Dr Robert Guthrie (1916-95) at the University of Buffalo. By 1963 the test had become a routine neonatal test for phenylketonuria
The Guthrie test or "Heel Prick" test is routinely carried out on neonatal (newborn 48-72 hours of age) blood for a variety of known genetic disorders. The clinical term "phlebotomy" describes the act of drawing or removing blood from the circulatory system through an incision or puncture to obtain a sample for analysis and diagnosis.
Note that different countries have different policies on:
- disorders included in the test
- archiving of this material
- deidentified availability for genetic research purposes.
An ultrasound study has identified the shortest depth of perichondrium was in the centre of the heel and ranged from 3 to 8 mm. In 78 of the 80 infants in the study (GA24 to 42 weeks), the distance was 4 mm or more. Showing that the standard automated lancets for preterm use (puncture to a depth of 2.4 mm) may be safely used anywhere over the plantar surface of the heel avoiding the posterior aspect of the heel. A more recent study identified the whole heel plantar surface is safe for obtaining blood in term and preterm infants of more than GA 33 weeks. A small amount of sucrose (0.012–0.12 g) can be given as an analgesic for newborns undergoing venepuncture or capillary heel-pricks.
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 shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Kenji Rowel Q Lim, Yusuke Echigoya, Tetsuya Nagata, Mutsuki Kuraoka, Masanori Kobayashi, Yoshitsugu Aoki, Terence Partridge, Rika Maruyama, Shin'ichi Takeda, Toshifumi Yokota Efficacy of Multi-exon Skipping Treatment in Duchenne Muscular Dystrophy Dog Model Neonates. Mol. Ther.: 2018; PubMed 30448197
Fabio Gosetti, Bianca Bolfi, Elisa Robotti, Marcello Manfredi, Marco Binotti, Federica Ferrero, Gianni Bona, Emilio Marengo Study of endocrine disrupting compound release from different medical devices through an on-line SPE UHPLC-MS/MS method. Anal. Chim. Acta: 2018, 1042;141-154 PubMed 30428981
Joseph Kochmanski, Jaclyn M Goodrich, Karen E Peterson, Julie C Lumeng, Dana C Dolinoy Neonatal bloodspot DNA methylation patterns are associated with childhood weight status in the Healthy Families Project. Pediatr. Res.: 2018; PubMed 30425339
Claudine Irles, Gabriela González-Pérez, Sandra Carrera Muiños, Carolina Michel Macias, César Sánchez Gómez, Anahid Martínez-Zepeda, Guadalupe Cordero González, Estibalitz Laresgoiti Servitje Estimation of Neonatal Intestinal Perforation Associated with Necrotizing Enterocolitis by Machine Learning Reveals New Key Factors. Int J Environ Res Public Health: 2018, 15(11); PubMed 30423965
Y-N Fang, Z-L Huang, H Li, W-B Tan, Q-G Zhang, L Wang, J-L Wu Highly expressed miR-182-5p can promote preeclampsia progression by degrading RND3 and inhibiting HTR-8/SVneo cell invasion. Eur Rev Med Pharmacol Sci: 2018, 22(20);6583-6590 PubMed 30402829
Joanne F Guthrie, Diane J Catellier, Emma F Jacquier, Alison L Eldridge, Wendy L Johnson, Anne C Lutes, Andrea S Anater, Erin E Quann WIC and non-WIC Infants and Children Differ in Usage of Some WIC-Provided Foods. J. Nutr.: 2018, 148(suppl_3);1547S-1556S PubMed 30247584
Alfonso Galderisi, Cosimo Giannini, Ram Weiss, Grace Kim, Veronika Shabanova, Nicola Santoro, Bridget Pierpont, Mary Savoye, Sonia Caprio Trajectories of changes in glucose tolerance in a multiethnic cohort of obese youths: an observational prospective analysis. Lancet Child Adolesc Health: 2018, 2(10);726-735 PubMed 30236381
Katherine Ann Thurber, Anna Olsen, Jill Guthrie, Rachael McCormick, Andrew Hunter, Roxanne Jones, Bobby Maher, Cathy Banwell, Rochelle Jones, Bianca Calabria, Raymond Lovett 'Telling our story... Creating our own history': caregivers' reasons for participating in an Australian longitudinal study of Indigenous children. Int J Equity Health: 2018, 17(1);143 PubMed 30219069
Andrew Walker, Jessica Rose Barrett, William Lee, Robert M West, Elspeth Guthrie, Peter Trigwell, Alan Quirk, Mike J Crawford, Allan House Organisation and delivery of liaison psychiatry services in general hospitals in England: results of a national survey. BMJ Open: 2018, 8(8);e023091 PubMed 30173160
| These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.
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
Incidence is about 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.
- PubMed Search - Phenylketonuria
Galactosaemia incidence is about 1 in 40,000 births, about 1-3 cases per year. See a recent disease review and a Cochrane Database review. 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 can be life saving.
- Links: milk
- PubMed Search - Galactosaemia
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
State laws mandate that blood be drawn from all newborn infants to screen for health-threatening conditions.
- GUTHRIE R & SUSI A. (1963). A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS. Pediatrics , 32, 338-43. PMID: 14063511
- Jain A & Rutter N. (1999). Ultrasound study of heel to calcaneum depth in neonates. Arch. Dis. Child. Fetal Neonatal Ed. , 80, F243-5. PMID: 10212093
- Arena J, Emparanza JI, Nogués A & Burls A. (2005). Skin to calcaneus distance in the neonate. Arch. Dis. Child. Fetal Neonatal Ed. , 90, F328-f331. PMID: 15871987 DOI.
- Stevens B, Yamada J & Ohlsson A. (2004). Sucrose for analgesia in newborn infants undergoing painful procedures. Cochrane Database Syst Rev , , CD001069. PMID: 15266438 DOI.
- Bessey A, Chilcott JB, Leaviss J & Sutton A. (2018). Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme. Orphanet J Rare Dis , 13, 179. PMID: 30309370 DOI.
- Sampaio H, Wilcken B & Farrar M. (2018). Screening for spinal muscular atrophy. Med. J. Aust. , 209, 147-148. PMID: 30107765
- Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M & Ayesha H. (2018). Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem. Genet. , 56, 7-21. PMID: 29094226 DOI.
- van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ & Derks TG. (2016). Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Neonatology , 109, 297-302. PMID: 26907928 DOI.
- Hawkes N. (2014). Newborn babies will be tested for four more disorders, committee decides. BMJ , 348, g3267. PMID: 25134132
- Adam BW, Hall EM, Sternberg M, Lim TH, Flores SR, O'Brien S, Simms D, Li LX, De Jesus VR & Hannon WH. (2011). The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States. Clin. Biochem. , 44, 1445-50. PMID: 21963384 DOI.
- Nivoloni Kde A, da Silva-Costa SM, Pomílio MC, Pereira T, Lopes Kde C, de Moraes VC, Alexandrino F, de Oliveira CA & Sartorato EL. (2010). Newborn hearing screening and genetic testing in 8974 Brazilian neonates. Int. J. Pediatr. Otorhinolaryngol. , 74, 926-9. PMID: 20538352 DOI.
- Hardin J, Finnell RH, Wong D, Hogan ME, Horovitz J, Shu J & Shaw GM. (2009). Whole genome microarray analysis, from neonatal blood cards. BMC Genet. , 10, 38. PMID: 19624846 DOI.
- 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]
- Demirbas D, Coelho AI, Rubio-Gozalbo ME & Berry GT. (2018). Hereditary Galactosemia. Metab. Clin. Exp. , , . PMID: 29409891 DOI.
- Lak R, Yazdizadeh B, Davari M, Nouhi M & Kelishadi R. (2017). Newborn screening for galactosaemia. Cochrane Database Syst Rev , 12, CD012272. PMID: 29274129 DOI.
van der Spek J, Groenwold RH, van der Burg M & van Montfrans JM. (2015). TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. J. Clin. Immunol. , 35, 416-30. PMID: 25893636 DOI.
Adam BW, Hall EM, Sternberg M, Lim TH, Flores SR, O'Brien S, Simms D, Li LX, De Jesus VR & Hannon WH. (2011). The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States. Clin. Biochem. , 44, 1445-50. PMID: 21963384 DOI.
Streetly A, Latinovic R, Hall K & Henthorn J. (2009). Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005-7. J. Clin. Pathol. , 62, 26-30. PMID: 19103854 DOI.
Whiteman PD, Clayton BE, Ersser RS, Lilly P & Seakins JW. (1979). Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Arch. Dis. Child. , 54, 593-8. PMID: 507913
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.
- Geneva: World Health Organization; 2010. WHO Guidelines on Drawing Blood: Best Practices in Phlebotomy.
- PDF Screening Guidelines (2015)
- PDF Newborn Bloodspot Screening - NSW Health (2016)
- Australian Institute of Health and Welfare (AIHW)
- NSW Genetics Health
- Screening Programmes
- UK National Screening Committee
- UK National Screening Committee - Meetings
- newborn blood spot
- newborn blood spot
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Cite this page: Hill, M.A. (2018, November 19) Embryology Guthrie test. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Guthrie_test
- © Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G