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 Newborn
screening
Newborn screening is the process of testing
newborn babies for treatable genetic, endocrinologic,
metabolic and hematologic diseases. Newborn screening
has been adopted by most countries around the world,
though the lists of screened diseases vary widely.
Common considerations in determining
whether to screen for disorders:
1. A disease that can be missed clinically at birth
2. A high enough frequency in the population
3. A delay in diagnosis will induce irreversible damages
to the baby
4. A simple and reasonably reliable test exists
5. A treatment or intervention that makes a difference
if the disease is detected early
Simple blood sample is required by pricking the heel
of a newborn baby. It is usually specified that the
sample be obtained on the second or third day of life,
after protein-containing feedings (i.e., breast milk
or formula) have started, and the postnatal TSH surge
subsided.
With the development of tandem mass spectrometry in the
early 1990s, the number of detectable diseases has increased,
especially in the categories of fatty acid oxidation disorders
and organic acidoses. Screening tests for the disorders
listed below (and an increasing number of others) are
now available, though not universally mandated.
Newborn Screening Tests:
- Acylcarnitine Profile - Fatty Acid Oxidation
Disorders
- Acylcarnitine Profile - Organic Acid Disorders
- Amino Acid Profile - Amino Acid Disorders
- Amino Acid Profile - Other
- Disorders By Other Technologies
STEP 1
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