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minimal-medium agar plate that contains added beta-2-thienylalanine. If the sample contains phenylalanine, phenylpyruvate, and/or phenyllactate then these compounds will diffuse into the agar medium. If their concentrations are high enough (as with the excess levels seen with PKU), bacteria will grow under the disc, but not elsewhere. Generally an overnight incubation is enough to determine whether phenylalanine, phenylpyruvate, and/or phenyllactate are present in unusual concentrations in blood or urine.
31:
191:(ATCC 6051) on minimal culture media. If phenylalanine, phenylpyruvate, and/or phenyllactate is added to the medium, then growth is restored. Such compounds will be present in excess in the blood or urine of patients with PKU. If a suitably-prepared sample of blood or urine is applied to the seeded agar plate, the growth of the bacteria in the test will be a positive indicator for PKU in the patient.
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To prepare the sample for application, a small amount of blood (from a heel puncture, for example) or urine (from a diaper, for example) is applied to a piece of filter paper. Then a small disc is punched from the center of the spot of blood or urine, and the disc applied to the surface of a seeded,
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is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood. This technique is used frequently as the main way to collect blood from neonates. Other techniques include venous or arterial needle sticks, cord blood
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In
Ireland, a controversy emerged in 2012 whereby a number of hospitals retained heel prick test cards and thereby a DNA database with over a million samples from 1984, without consent or notification of parents. This resulted in a ten-year rolling destruction cycle being introduced. Similar
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With genetic tests becoming more common, a wide variety of tests may use the blood drawn by this method. Many neonatal units (SCBUs) now use this method to carry out the daily blood tests (blood count, electrolytes) required to check the progress of ill neonates.
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The test uses the growth of a strain of bacteria on a specially-prepared agar plate as a sign for the presence of high levels of phenylalanine, phenylpyruvate, and/or phenyllactate. The compound B-2-thienylalanine will inhibit the growth of the bacterium
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The blood spot sample should be taken between 48 and 72 hours of age for all babies regardless of medical condition, milk feeding and prematurity. For the purpose of screening, date of birth is day 0 (some IT systems record date of birth as day 1).
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Heel stick wounds are a cutaneous condition characterized by a break in the skin caused by neonatal heel prick. The heel stick is an important medical screening for the child and causes low levels of pain.
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who devised it in 1962. The test has been widely used throughout North
America and Europe as one of the core newborn screening tests since the late 1960s. The test was initially a
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223:(17OHP) in dried blood spots, it exhibits a significant rate of false positive results. As per the clinical practice guideline issued by the Endocrine Society in 2018, employing
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and androstenedione) is recommended as a supplementary screening approach to enhance the accuracy of positive predictions.
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Mu D, Sun D, Qian X, Ma X, Qiu L, Cheng X, Yu S (December 2023). "Steroid profiling in adrenal disease".
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The blood samples can be used for a variety of metabolic tests to detect genetic conditions, including:
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practices exist in the United
Kingdom, New Zealand, and several states of the United States.
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Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006).
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sampling, or umbilical line collection. This technique is often utilized for the
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can sometimes occur when the screening tests are performed before 48 hours.
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103:(MSUD or Branched Chain Ketonuria) a rare disorder where an error in
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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leucine, isoleucine and valine. It can impair brain development.
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to measure 17OHP and other adrenal steroid hormones (such as
507:"International standards for storing samples vary wildly"
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method is utilized as a screening method for quantifying
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List of disorders included in newborn screening programs
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The blood of a two-week-old infant is collected for a
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Medium-chain acyl-coenzyme A dehydrogenase deficiency
332:. Lippincott Williams & Wilkins. pp. 162–.
456:: CS1 maint: bot: original URL status unknown (
563:Maternal Child Nursing Care in Canada - E-Book
162:Homocystinuria (pyridoxine unresponsive) (HCU)
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8:
329:Oski's pediatrics: principles & practice
446:. Archived from the original on 2006-03-08.
165:17-hydroxy-progesterone (17-OHP) to detect
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54:The classical Guthrie test is named after
566:. Elsevier Health Sciences. p. 700.
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27:Blood collection procedure for newborns
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383:
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361:"NHS Screening antenatal and newborn"
7:
444:health.vic.gov.au (via archive.org)
74:that can detect a wider variety of
130:can impair brain development (PKU)
25:
600:at the General Practice Notebook
517:from the original on 2015-04-02
421:from the original on 2009-05-01
123:, a disorder where an error in
440:"Newborn screening guidelines"
171:congenital adrenal hyperplasia
1:
139:Thyroid stimulating hormone
698:
560:Perry, Shannon E. (2016).
239:Data retention controversy
107:inhibits the breakdown of
91:Immunoreactive trypsinogen
68:bacterial inhibition assay
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537:Dermatology: 2-Volume Set
485:10.1016/j.cca.2023.117749
147:congenital hypothyroidism
101:Maple syrup urine disease
263:Dried blood spot testing
72:tandem mass spectrometry
221:17α-hydroxyprogesterone
167:adrenogenital syndrome
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273:Hyperphenylalaninemia
33:
539:. St. Louis: Mosby.
651:Neonatal heel prick
157:Isovaleric acidemia
134:Sickle-cell disease
76:congenital diseases
44:neonatal heel prick
38:, or PKU, screening
302:2016-12-01 at the
149:and hence prevent
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664:
663:
635:Newborn screening
546:978-1-4160-2999-1
339:978-0-7817-3894-1
278:Newborn screening
189:Bacillus subtilis
82:Detected diseases
16:(Redirected from
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415:screening.nhs.uk
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363:. Archived from
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248:Heel stick wound
229:21-deoxycortisol
169:, also known as
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210:false negatives
206:False positives
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145:(T4) to detect
121:Phenylketonuria
95:cystic fibrosis
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36:Phenylketonuria
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60:bacteriologist
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56:Robert Guthrie
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577:. Retrieved
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519:. Retrieved
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423:. Retrieved
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397:the original
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389:"PHE-TST001"
369:. Retrieved
365:the original
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343:. Retrieved
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268:Galactosemia
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176:Galactosemia
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49:Guthrie test
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682:Neonatology
511:Irish Times
411:"Standards"
217:immunoassay
671:Categories
579:18 January
521:2015-03-25
479:: 117749.
425:2015-02-07
371:2009-02-26
284:References
128:metabolism
125:amino acid
109:amino acid
105:metabolism
93:to detect
18:Heel stick
677:Midwifery
215:When the
182:Mechanism
151:cretinism
141:(TSH) or
64:physician
515:Archived
493:38169194
452:cite web
419:Archived
345:16 April
309:Catalyst
300:Archived
257:See also
225:LC-MS/MS
143:Thyroxin
393:uic.edu
117:(MCADD)
570:
543:
491:
336:
199:Timing
159:(IVA)
581:2018
568:ISBN
541:ISBN
489:PMID
458:link
347:2010
334:ISBN
314:ABC1
208:and
62:and
42:The
481:doi
477:553
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
