Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.
What causes Down syndrome?
Down syndrome is caused by a problem with a baby’s chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. Having extra or abnormal chromosomes changes the way the brain and body develop.
Experts don’t know the exact cause, but some things increase the chance that you’ll have a baby with Down syndrome. These things are called risk factors.
Your risk of having a baby with Down syndrome is higher if:
- You are older when you get pregnant. Many doctors believe that the risk increases for women age 35 and older.
- You have a brother or sister who has Down syndrome.
- You had another baby with Down syndrome.
If you’ve had a baby with Down syndrome and are planning another pregnancy, you may want to talk to your doctor about genetic counseling.
What are the symptoms?
Most children with Down syndrome have:
- Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth.
- A short neck and short arms and legs.
- Low muscle tone and loose joints. Muscle tone usually improves by late childhood.
- Below-average intelligence.
Many children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.
How is Down syndrome diagnosed?
We suggest that you have tests during pregnancy to find out if your baby has Down syndrome. You may decide to have:
- Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.
- Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about Down syndrome.
Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby’s blood will be tested. It may take 2 to 3 weeks to get the test results.
At the Elizabeth Hospital, we can do the Down syndrome test as part of our pre-natal screening package.
Moreover, the Hospital provides full Psychological service to mothers/families affected by down syndrome.
Please contact us for further details.