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neonatal heel prick : ウィキペディア英語版
neonatal heel prick

The neonatal heel prick or Guthrie test is a screening test done on newborns. It consists of making a pinprick puncture in one heel of the newborn and soaking the blood into pre-printed collection cards known as Guthrie cards.〔(Guthrie Cards ), ''Catalyst'' (ABC1), 29 May 2003.〕
The classical Guthrie test is named after Robert Guthrie, an American bacteriologist and physician 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 bacterial inhibition assay, but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry that can detect a wider variety of congenital diseases.
==Detected diseases==
The blood samples can be used for a variety of metabolic test to detect genetic conditions, including:
* Galactosemia
* Immunoreactive Trypsinogen (IRT) to detect cystic fibrosis.
* Maple syrup urine disease (MSUD or Branched Chain Ketonuria) a rare disorder where an error in metabolism inhibits the breakdown of amino acid leucine, isoleucine and valine. It can impair brain development.
* Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)
* Phenylketonuria, a disorder where an error in amino acid metabolism can impair brain development (PKU)
* Sickle-cell disease〔http://www.screening.nhs.uk/an/index.htm〕
* Thyroid stimulating hormone (TSH) to detect congenital hypothyroidism and hence prevent cretinism.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「neonatal heel prick」の詳細全文を読む



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