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.
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.