Sure: The newborn blood screen tests for some rare disorders, some of which are due to a mutation (a change) at a single point on a gene on one of the baby's 46 chromosomes. Down syndrome is not that kind of mutation, but rather a major genetic defect in which the baby has one extra chromosome more than what normal humans are should have. A typical Down syndrome baby has 47 chromosomes instead of 46.
Answered 2/24/2018
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Yes: They are separate issues. PKU is a metabolic disease. Down syndrome is caused by an extra 21 chromosome in each cell. Testing for each condition is separate. Many times a doctor can examine a baby & conclude that DS is likely. PKU cannot be determined or suspected by a newborn exam, it is found with tests.
Answered 2/24/2018
395 views
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