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The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
Newborn screening mostly measures metabolite and enzyme activity using a dried blood spot sample. [99] Screening tests are carried out in order to detect serious disorders that may be treatable to some extent. [ 100 ]
List of congenital disorders. 1 language. ... This page was last edited on 28 September 2024, at 13:01 (UTC).
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
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There are three purposes of prenatal diagnosis: (1) to enable timely medical or surgical treatment of a condition before or after birth, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance to prepare psychologically, socially, financially, and medically for a baby with a health problem or disability, or for the likelihood of a ...
Newborn screening screens infants a few days after birth to evaluate for evidence of treatable diseases. Most newborn screening uses tandem mass spectroscopy [22] to detect biochemical abnormalities that suggest specific disorders. DNA-based newborn testing complements existing newborn screening methods and may replace it. [23]