Down syndrome is a genetic condition caused by an extra chromosome. It occurs in one in 700 - 900 live births and results when the fetus ends up with three copies of chromosome 21 instead of two. When this happens, certain genes on chromosome 21 are “over-expressed” which causes cellular changes that lead to health problems, developmental delays and learning disabilities.

Fortunately, scientists around the world are learning more specifics about the biochemical, physical and psychological changes that define Down syndrome and they are exploring ways to prevent or overcome their effects. Down syndrome research, in fact, is turning out to have important health implications for the rest of us as it has led to significant discoveries in male fertility, Alzheimer’s and breast cancer.

View a timeline showing the history of Down syndorme.

Prenatal Testing
You may have arrived at our site seeking information on Down syndrome because you have had a prenatal screening test indicating that you may be carrying  a child with Down syndrome.  This is an extremely emotional period for expectant parents - the decisions  that you face are the most difficult you will ever have to make.

At the DSRF we are here to provide you with information.  If you would like  an opportunity to ask questions, review our information packages and resources or talk with other families who have faced the same decisions please contact us by email at info@dsrf.org or by phone at 604-444-3773.

Below are links to further information on the topic of prenatal diagnosis of Down syndrome.   

Continuing pregnancy with a diagnosis of Down's syndrome - A guide for parents / Stuart Mills.  London, UK : Down's Syndrome Association, 2006.

A brochure produced by the Down's Syndrome Association in the UK about continuing a pregnancy with a diagnosis of Down syndrome.  

Prenatal screening for fetal aneuploidy: commentary by the Canadian Down Syndrome Society / Prenatal Genetic Screening and Testing: position statement by the Canadian Down Syndrome Society, Friday, 17 July 2009

A position statement issued by the Canadian Down Syndrome Society, regarding prenatal screening in Canada.

SOGC clinical practice guideline No. 187: prenatal screening for fetal aneuploidy  / Principal authors; Anne M. Summers, Sylvie Langlois, Phil Wyatt, R. Douglas Wilson. Journal of Obstetrics and Gynaecology Canada  2007 Feb;29(2):146-161.

The Society of Obstetricians and Gynecologists of Canada position statement to offer universal screening for fetal anomalies for all pregnant women in Canada.