|Embryology - 18 Mar 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
The "Heel Prick" test is now routinely carried out on neonatal (newborn) blood for a variety of known genetic disorders. Different countries have different policies on the archiving of this material and deidentified availability for genetic research purposes. 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.
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.
Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur Congenital Adrenal Hyperplasia: clinical symptoms and diagnostic methods. Acta Biochim. Pol.: 2018; PubMed 29543924
Michiko Wada, Makoto Kita, Kaoru Kawasaki, Toru Kusakabe, Tetsuya Tagami, Noriko Satoh-Asahara, Akira Shimatsu, Koshi Hashimoto False-positive TSH receptor antibody-a pitfall of third-generation TSH receptor antibody measurements in neonates. Endocr. J.: 2018; PubMed 29526990
Laura Mercer-Rosa, Okan U Elci, Nelangi M Pinto, Ronn E Tanel, Elizabeth Goldmuntz 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels. Pediatr Cardiol: 2018; PubMed 29520463
Victoria Hall, William L Walker, Nicole P Lindsey, Jennifer A Lehman, Jonathan Kolsin, Kimberly Landry, Ingrid B Rabe, Susan L Hills, Marc Fischer, J Erin Staples, Carolyn V Gould, Stacey W Martin Update: Noncongenital Zika Virus Disease Cases - 50 U.S. States and the District of Columbia, 2016. MMWR Morb. Mortal. Wkly. Rep.: 2018, 67(9);265-269 PubMed 29518067
Ruth C E Hughes, Janet Rowan, Jonathan Williman Prediabetes in pregnancy, can early intervention improve outcomes? A feasibility study for a parallel randomised clinical trial. BMJ Open: 2018, 8(3);e018493 PubMed 29502087
Suzanne Grant, Bruce Guthrie Between demarcation and discretion: The medical-administrative boundary as a locus of safety in high-volume organisational routines. Soc Sci Med: 2018, 203;43-50 PubMed 29547868
Rustam Al-Shahi Salman, Martin S Dennis, Gordon D Murray, Karen Innes, Jonathan Drever, Lynn Dinsmore, Carol Williams, Philip M White, William N Whiteley, Peter A G Sandercock, Cathie L M Sudlow, David E Newby, Nikola Sprigg, David J Werring, RESTART collaborators The REstart or STop Antithrombotics Randomised Trial (RESTART) after stroke due to intracerebral haemorrhage: study protocol for a randomised controlled trial. Trials: 2018, 19(1);162 PubMed 29506580
Lisa G Guthrie, Frédéric Vallée-Tourangeau Numbers in action: individual differences and interactivity in mental arithmetic. Cogn Process: 2018; PubMed 29397470
Patricia A Cioe, Kate M Guthrie, Matthew S Freiberg, David M Williams, Christopher W Kahler Cardiovascular Risk Reduction in Persons Living With HIV: Treatment Development, Feasibility, and Preliminary Results. J Assoc Nurses AIDS Care: 2017; PubMed 29329940
Michael M Ward, Jinxiang Hu, Lori C Guthrie, Maria Alba Testing the construct validity of a health transition question using vignette-guided patient ratings of health. Health Qual Life Outcomes: 2018, 16(1);2 PubMed 29298709
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
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.
- A Jain, N Rutter Ultrasound study of heel to calcaneum depth in neonates. Arch. Dis. Child. Fetal Neonatal Ed.: 1999, 80(3);F243-5 PubMed 10212093
- J Arena, J I Emparanza, A Nogués, A Burls Skin to calcaneus distance in the neonate. Arch. Dis. Child. Fetal Neonatal Ed.: 2005, 90(4);F328-f331 PubMed 15871987
- B Stevens, J Yamada, A Ohlsson Sucrose for analgesia in newborn infants undergoing painful procedures. Cochrane Database Syst Rev: 2004, (3);CD001069 PubMed 15266438
- Willemijn J van Rijt, Geneviève D Koolhaas, Jolita Bekhof, M Rebecca Heiner Fokkema, Tom J de Koning, Gepke Visser, Peter C J I Schielen, Francjan J van Spronsen, Terry G J Derks Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Neonatology: 2016, 109(4);297-302 PubMed 26907928
- 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
- B W Adam, E M Hall, M Sternberg, T H Lim, S R Flores, S O'Brien, D Simms, L X Li, V R De Jesus, W H Hannon The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States. Clin. Biochem.: 2011, 44(17-18);1445-50 PubMed 21963384
- Karin de A B Nivoloni, Sueli M da Silva-Costa, Mariza C A Pomílio, Tânia Pereira, Karen de C Lopes, Vanessa C S de Moraes, Fabiana Alexandrino, Camila A de Oliveira, Edi L Sartorato Newborn hearing screening and genetic testing in 8974 Brazilian neonates. Int. J. Pediatr. Otorhinolaryngol.: 2010, 74(8);926-9 PubMed 20538352
- Jill Hardin, Richard H Finnell, David Wong, Michael E Hogan, Joy Horovitz, Jenny Shu, Gary M Shaw Whole genome microarray analysis, from neonatal blood cards. BMC Genet.: 2009, 10;38 PubMed 19624846 | 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]
Jet van der Spek, Rolf H H Groenwold, Mirjam van der Burg, Joris M van Montfrans TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. J. Clin. Immunol.: 2015; PubMed 25893636
B W Adam, E M Hall, M Sternberg, T H Lim, S R Flores, S O'Brien, D Simms, L X Li, V R De Jesus, W H Hannon The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States. Clin. Biochem.: 2011, 44(17-18);1445-50 PubMed 21963384
A Streetly, R Latinovic, K Hall, J Henthorn 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.: 2009, 62(1);26-30 PubMed 19103854
P D Whiteman, B E Clayton, R S Ersser, P Lilly, J W Seakins Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Arch. Dis. Child.: 1979, 54(8);593-8 PubMed 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.
- 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, March 18) 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