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E. Screening and Assessments of Down Syndrome
- Prenatally, In the second trimester, an ultrasound performed between 18 and 22 weeks can look for characteristics/ soft markers that indicate an increased risk of Down syndrome.
The Quadruple test (also known as the quadruple screen test or quadruple blood test) is a screening test administered between 14 and 20 weeks of pregnancy. The purpose of this screening test is to determine your chances of having a baby with Down's syndrome.
Another blood test known as the Triple test is performed in the second trimester of pregnancy at 15 to 20 weeks gestation. It measures the levels of certain hormones in the mother's blood to assess the risk of some genetic conditions including Down syndrome. However, Quadruple tests are known to be more accurate in detecting Down syndrome.
Diagnostic tests are mainly used to confirm a Down syndrome diagnosis after a positive screening test. The following are examples of diagnostic tests:
- Chorionic villus sampling (CVS)
- Percutaneous umbilical blood sampling (PUBS)
These tests check for chromosomal abnormalities that could imply a diagnosis of Down syndrome. After the medical diagnosis, children with Down syndrome may have to undergo further assessments based on the associated conditions like:
- Psychological assessment
- Speech and Language assessment
- Occupational therapy assessment
These assessments involve history collection, parental interviews, standardized assessments, and are carried out to understand the strengths and weaknesses of the child across various domains.
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