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Down Syndrome

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Down Syndrome: 

Down syndrome (or Down's syndrome) is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born. 

The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75 - 80% of children with Down syndrome are born to younger women.


Facts About Down Syndrome:

  • The Centers for Disease Control (CDC) in 2011 estimated the frequency of Down syndrome in the US is 1 in 691 live births (up from 1 in 1087 in 1990)
  • The estimate that 90% of pregnant women in the U.S. who get a diagnosis of Down syndrome through amniocentesis choose to terminate IS INACCURATE.
  • This statistic is based on studies done that merged findings from the U.S., UK and Europe in the mid- to late 1990s. The numbers do not represent the attitudes of the US population then or today.
  • A more targeted 2012 review of just United States data and termination rates following a prenatal diagnosis for Down syndrome estimates termination rates from 1995 – 2011 were about 67%.
  • Surprisingly, The population of people in the US with Down syndrome is currently unknown. What we do know is:
  • 38% of Americans know someone with Down syndrome.
  • Because of the increase of live births of people with Down syndrome and the recent dramatic increase in their lifespan, over the next 20 years a significant increase in the population of people with Down syndrome in the U.S. is expected.
  • The population of people with Down syndrome in the U.S. has been estimated to be over 400,000. However, this number is derived from faulty assumptions – the total population from the 2000 US census, 281.4 million people, divided by the most current frequency of live births, 691 equaling 407,236. Unfortunately, this technique takes no account of the gradual increase in frequency or the increase in lifespan of people with Down syndrome. Thus, we don’t actually know how many people with Down syndrome currently live in the U.S.4. Some estimates put the worldwide population of people with Down syndrome at more than 6 million. More research is needed to ascertain whether this number is accurate.

The Good News On The Progress Of Down Syndrome Prevention:

Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). Approximately 0.45% of human conceptions are trisomic for Hsa21. The incidence of trisomy is influenced by maternal age and differs between populations (between 1 in 319 and 1 in 1000 live births are trisomic for Hsa21) . Trisomic fetuses are at an elevated risk of miscarriage, and people with DS have an increased risk of developing several medical conditions. Recent advances in medical treatment and social inclusion have significantly increased the life expectancy of people with DS. In economically developed countries, the average life span of people who are trisomic for Hsa21 is now greater than 55 years



*information pulled from and