“I don’t care if this baby is a boy or a girl. I just hope he or she is healthy.” Almost every parent, or parent to be has uttered out loud, or thought to themselves, some version of this sentiment. Healthy baby first. Gender second. So what would you do to stack the deck in favour of having a healthy child? Eat better, exercise? Some of these changes are a no brainer. But what about genetic screening before you get pregnant? When does that make sense?
Most of us know there are many things you do to help grow a healthy baby once you get pregnant, but how about before that? What if you started thinking about conception and pre-conception planning before getting pregnant? What if you started planning by saving for the Counsyl Family Prep Screen as soon as you started planning your wedding? That’s what Mom and advocate Julie Kristof would like to see more people consider, especially when those people are of Ashkenazi Jewish descent.
Kristof is of Ashkenazi Jewish descent and is mother to a daughter born with an inherited genetic disorder and an advocate for early genetic screening as well as educating other Canadians about their options. Education is the most powerful tool in a prospective parent’s toolkit.
Kristof is Mom to Mimi, who just turned nine, and is a boisterous force to be reckoned with. Mimi has familial dysautonomia, which is a serious disease that impacts the entire family. Kristof said she began advocating for genetic screening because she became aware of how little people knew about the topic shortly after her daughter was born. In high school Julie Kristof was screened for Tay Sachs, because of her Jewish heritage. By the time she was considering pregnancy she did not think she needed any more genetic screening.
The ideal time to do genetic screening is before you become pregnant, according to Dr. Arthur Zaltz, the Head of Women and Babies Program at Sunnybrook. Zaltz is also Head of Core Obstetrics & Gynaecology Division at the University of Toronto.
“What do we know about pre-pregnancy. We know stop smoking. We know take folic acid, but what else? We are not doing a great job at talking about pre-pregnancy counselling, ” says Dr. Zaltz.
“Certain ethnic groups have a higher pre-disposition to these disorders.”
Although families of certain ethnic backgrounds are usually offered carrier testing for the common conditions in their group, we know that many carrier couples are missed with this approach. In fact most children with rare genetic diseases are born to families with no history of the condition.
Starting a family is a highly personal decision for a couple, hopefully resulting in a healthy pregnancy and baby. For Jewish Canadians, especially those of the Ashkenazi Jewish Community, having access to information about potential underlying genetic conditions is one way for couples or individuals to have a clear picture of the risk of specific disorders prior to conception.
FACT: About 1 out of 2 people of Ashkenazi Jewish heritage is a carrier of one rare genetic condition, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease.
More about The Counsyl Family Prep Screen:
This particular prep screen is extremely simple according to Dr. Zaltz. It requires a blood or saliva test.
· Flexible – can be performed before or during pregnancy
· Informative – includes genetic counselling support
· Quick – results within 2 to 3 weeks
How does it work?
A positive result means that a prospective parent is a healthy “carrier” of a genetic disease. When both parents are carriers of the same disease, they have a one in four chance of giving birth to a child that will have that disease, including Cystic Fibrosis, Familial Dysautonomia and Tay-Sachs disease, among many others. These are health conditions where advance knowledge can change the way a couple approaches family planning. The test results are kept strictly confidential and are not shared.
“I think you will see over the next couple of years more and more people will start asking for this,” says Dr. Zaltz.
Why the Counsyl Family Prep Screen Genetic Screening is Valuable:
The Counsyl Family Prep Screen costs about $900 although some provincial and private insurance plans may cover the cost of testing. It screens for over 100 diseases and disorders. The Counsyl Family Prep Screen can help couples and individuals make informed choices about their future child’s health.
“Knowing what I know now, I have to say this would be one of the tests I would have considered. The cost is well worth it. Look at it very carefully and ask yourself what your reasons are for wanting to know…I have had to watch my youngest child, who is sick every day. That kind of sucks. My advice would be get the most information you can to make an informed decision,” says Julie Kristof.
This post is sponsored which means I have been compensated. My opinion is all my own and it is also truthful.