Heel Stick for Neonatal Screening Test Procedure
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Many children have to face disabilities and premature death due to various metabolic and genetic diseases that can be prevented by early diagnosis and treatment. Newborn screening programme is a step to ensure that these diseases do not go undiagnosed in the early stages and individualized management programmes can be devised for such children.
Image 1: procedure of neonatal heel prick.
History and Uses
This test was devised by an American physician and bacteriologist Robert Guthrie and it was first used in 1962.The test initially was based on bacterial inhibition assay but now new technologies like tandem mass spectroscopy are being used for newborn screening (Behrman et al, 2012).
It is estimated that by use of newborn screening there is an increase of approximately 32% in the diagnosis of children affected with various disorders (Behrman et al., 2012). This procedure is also important as these infants are apparently normal at birth and may be diagnosed late in life when the disease has caused irreversible damage.
Though there are variations in the list of diseases covered in the screening in different countries and states (Cloherty et al., 2011) the following major diseases are included:
Galactosemia and Phenylketonuria
Hemoglobinopathies and cystic fibrosis.
Amino acid, fatty acid and organic acid disorders.
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