Each family has its own genetic characteristics and thus, each baby is at risk of developing certain hereditary diseases. For prospective parents, the option of prenatal screening for Down syndrome 13, 18 and 21, as well as certain genetic abnormalities, has become standard during pregnancy. Our partners at Prenato offer reliable fetal DNA tests from the 10th week of pregnancy. However, many couples learn that they are at risk of transmitting a hereditary disease to their baby only once they are already pregnant. What if you took charge of your genetic health before this big step?
Your ethnicity, geographic origins and family history all play a role in your genetic code. This is why, when conceiving a child, the genetic inheritance of both parents can be passed on to the child. The majority of parents who carry certain genetic diseases are not aware of this. Being a carrier of a recessive disease does not mean developing symptoms. Whether it is cystic fibrosis, congenital lactic acidosis, hereditary type 1 tyrosinemia, hereditary motor and sensory neuropathy, to name a few. These hereditary diseases still affect a large number of babies in Quebec.
When both parents carry a pathogenic variant in the same gene, a recessive disease can be transmitted to the child; there is a chance they will also be a carrier, but also a chance that they will be affected with the disease. Screening both parents, even before conceiving a child, allows you to know your risk of transmission. Above all, knowledge of your genetic variants allows you to plan for follow-up that is adapted to your situation.
Your genetic counsellor at Genolife – My Genetic Health can help you. Call us to discuss your options, without commitment!