In today’s world, people with Down syndrome are more and more integrated into society, such as work forces, school, and social activities. It’s been shown more and more that Down syndrome does not hold individuals back from achieving their dreams. But there are still some questions surrounding this condition, the chances of having a child with Down syndrome, and what this means for individuals.

What are the traits of Down syndrome?

Down syndrome occurs in the presence of all or part of an extra chromosome. Normally, people have 23 pairs of chromosomes, for 46 in total. However, those with Down syndrome have 47. This is because an error in cell division creates three copies of chromosome 21 instead of two. That extra chromosome can alter appearance and cognitive function.

While not all people with Down syndrome have the same traits, there are some common physical indicators of this genetic condition.

  • Slightly flattened facial profile
  • Upward-slanted eyes
  • Low muscle tone
  • A single deep crease over the palm of the hand

Most people with Down syndrome also have cognitive delays, from very mild to moderate, although severe delays exist.

Life expectancy is positive and climbing for individuals with Down syndrome. It once wasn’t this way, with children not expected to survive past 20. Recent medical advancements, particularly with corrective heart surgery, has the average life expectancy at age 60, though many individuals live much longer.

What are the chances of my baby having Down syndrome?

1 in every 700 babies have Down syndrome, with about 6,000 Down syndrome births per year in the United States. Down syndrome occurs regardless of race or economic level, but older women (especially age 40+) have a higher chance of having a child with Down syndrome. The chart below, from the National Down Syndrome Society, illustrates this chance going up.

via http://www.ndss.org

Can Down syndrome be detected?

Before a baby is born, screening and diagnostic tests can estimate the chances that your baby will have Down syndrome. Screens cannot tell you for sure, but diagnostic tests can, and with almost 100% accuracy. Doctors will offer both of these tests to women of all ages.

At birth, a doctor can identify Down syndrome by its common physical traits (noted above). However, since not all Down syndrome babies will have these traits or because they may be present without Down syndrome, the doctor may need to do other tests. One of these tests is a karyotype, a chromosomal analysis of the baby’s cells. This and other tests such as FISH can confirm diagnosis.

 

If you have questions about Down syndrome, such as treatment for your child or questions about your chances, contact us today.