Down Syndrome Causes and Risks
Author: Shannon Miller Lifestyle
Knowledge is power; find out more by reading these facts about Down Syndrome.
What is Down Syndrome?
Down Syndrome occurs when there is an abnormality in one of our twenty-three chromosome pairs. Specifically, it happens when chromosome 21 has an abnormal cell division.
Something so simple causes something so complex.
Down Syndrome characteristics include:
- A common set of facial features, including a flattened forehead and nose and upward slanting eyes
- A smaller than normal head size
- A shorter than normal neck size
- A thick, protruding tongue
Children with Down Syndrome can also:
- Grow more slowly than their peers
- Have excessive flexibility
- Have short hands and fingers
- Be mentally challenged
Children with Down Syndrome can have the following complications during life:
- Heart defects
- Sleep apnea
- Hearing loss
- Poor vision
HOWEVER, educational strides and medical strides make life with Down Syndrome much easier than it used to be. For example, now offered are anti-seizure medications, surgery for heart defects, early intervention therapies, such as physical therapy and speech therapy and even educational therapies in public school systems.
Who is at risk for developing Down Syndrome?
The most predominant risk of Down Syndrome is simply that the mother is 35 or over. There is a slight chance that genetics will play a role, but that only happens in 4% of cases. There really are no other warning signs.
Are there prenatal tests for Down Syndrome?
According to the Mayo Clinic, the first way most doctors will test for Down Syndrome is through ultrasound. There tends to be more fluid than normal on the back of the neck of a baby with Down Syndrome. If the doctor sees this, he will order more tests.
The second test is a blood test to check for abnormal pregnancy hormones PAPP-A and hCG.
- If there is still a concern, the doctor will order an amniocentesis, CVS, or PUBS.
- The amniocentesis has been around for a while. It is a sample of amniotic fluid, done through a needle into the abdomen of the mother, after week 15 of a pregnancy. This test is relatively safe, though there is a 1/200 chance of miscarriage.
- The CVS (Chorionic Villus Sampling) is a scraping of cells of the mother’s placenta, done a little earlier in the pregnancy. There is a 1% chance of miscarriage in this test, a little higher than amniocentesis.
- The PUBS (Percutaneous Umbilical Blood Sampling) test is a test from a vein in the umbilical cord, done during the later weeks of pregnancy. The PUBS test yields a higher risk of miscarriage than the other tests.
How do doctors test a baby for Down Syndrome?
If a baby has the physical symptoms listed above, he may test the baby for Down Syndrome. He would test for an extra chromosome 21 in a simple cell test.
What do I do next?
If you think that your baby has Down Syndrome, simply ask your pediatrician. They have the best tools to see if there is a problem with chromosome 21, or if there is another issue involved.
Then, contact your local support agencies via local web search or through national organizations such as the National Down Syndrome Society, the National Association for Down Syndrome. Many areas have volunteers to begin physical and speech therapy very early on, and many public school districts offer intervention starting at or around age 3.