Factsheets

We have developed numerous factsheets that may help you in understanding some of the more common things we talk about through the genetics program.  If you would like to learn more about each topic, please click on the links to get to the full factsheet. 

As with any information you may read, it is important to always talk to your health care provider about your own situation.  This website does not replace your health care provider's role in your own care and should not be considered medical advice.

General Factsheets

Hemoglobinopathies are a group of disorders that cause changes in the type or amount of the hemoglobin that is produced in your body.  Hemoglobin is the part of a red blood cell that carries oxygen to all parts of the body.

Consanguinity comes from two Latin words con: which means shared and sanguinis: meaning blood.  Consanguinity describes a relationship between 2 people who are related to each other because they share a common ancestor.  The most common form of a consanguineous relationship is between first cousins.

Prenatal Factsheets

Integrated Prenatal Screening (IPS) is a screening test available to all pregnant women within Ontario who would like to know if they have a lower or higher chance of having a baby with Down syndrome, open neural tube defects or trisomy 18.

Maternal Serum Screening (MSS) is a blood screening test available to all pregnant women in Ontario.  MSS measures four different hormones that have been produced by the baby's liver and the placenta.  It is a screening test available to all pregnant women within Ontario who would like to know if they have a lower or higher chance of having a baby with Down syndrome, open neural tube defects or trisomy 18.

Maternal Serum Screening (MSS)--screen positive for trisomy 18 is a screening test available to all pregnant women within Ontario who would like to know if they have a lower or higher chance of having a baby with Down syndrome, open neural tube defects or trisomy 18, but with a screen positive for trisomy 18, this means the chance is higher than usual that your baby might have trisomy 18.

Chorionic villus sampling is a prenatal diagnostic test that is done to obtain a few cells from the developing placenta (the chorion).  This test is usually performed at 11 to 13 weeks of pregnancy.

Cancer Factsheets

Breast cancer is a common type of cancer and will be diagnosed in approximately 1 in 9 Canadian women in their lifetime.  Ovarian cancer is a less common type of cancer and will be diagnosed in approximately 1 in 65 Canadian women in their lifetime.  It is estimated that only 5-10% are hereditary and said to "run in families".

Colon cancer is one of the more frequently seen types of cancers and is diagnosed in approximately 16 000 people in Canada every year.  Most individuals who have colon cancer have not inherited a gene that has predisposed them to cancer.  Their cancer is thought to occur by chance and the cause is unknown.  It is estimated that only 5-10% of colon cancers are hereditary and said to "run in families".