family,  Health

Prepare for a Healthy Baby Now – When Genetic Screening Makes Sense

“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.

Mom of two beautiful active girls, traveller, fitness junkie, social media consultant, and keeper of the sanity.


  • Kerrie Mendoza

    Really interesting – I didn’t know that private options were available. I was told because I had twins that I wasn’t able to have any genetic screening done without an amnio so I opted not to. While my boys were born healthy I would have liked the peace of mind to get screening done in pregnancy.

    • Paula schuck

      I actually didn’t know that. I find it interesting to see how far technology and medicine had come. If it lends peace of mind and where there are potential illnesses and diseases that can be a lifelong burden, then I think this is a useful option.

  • Aeryn Lynne

    If the hubby and I do decide to try to get pregnant, I would consider doing this first. We’re already going to need help to get pregnant, so I think I’ll want to know all I can beforehand, ’cause the stress of not knowing will probably not help in the long run. Thanks for the heads up!

  • Amanda Simkin

    I did the most basic genetic testing with both of my pregnancies and thankfully they both came out negative. This sounds like a great way to help ease parents’ minds and prepare them for anything that might come their way.

  • Dawn

    I think I would have the screening done too, my son has genetic disorder that should I have known about, I would have prepared myself for.

  • Nile

    Like Michele, I also stopped having kids a long time ago. I just gave my doc my family history, my own history/records, did the blood work, and listened to the doctor. Genetics and your own personal health, as well as lifestyle can be factors in adjusting to having a baby. Doing a screening is fine, but for some, it’s not available in their medical plans, or in some states for those on medical card for being on state aid.

  • Lynndee

    I would have considered taking the test too had I known about it. But thankfully, my son was a healthy baby and all the tests they made were all negative.

  • Nicole Etolen

    Oh, I haven’t heard of genetic screening. Sounds like a must-have, I hope every test turns to be negative!

  • Ann Bacciaglia

    I definitely would have done genetic screening when I had my kids. I think it is a fantastic idea for anyone wanting to have kids.

  • Debalino

    I have never heard of this – and you know that’s kind of crazy, considering I’ve been actively trying to conceive a healthy baby for the last 4 years! We’ve done a ton of genetic screening after a loss, but not this particular one pre-conception. I’m going to look into this now. Thanks so much for the info!! xx

  • mj

    I did the bare minimum with mine, as far as testing to look for problems. I can see why some couples would want to know. I don’t think I would.

  • Jenny

    I wished my sister seen a post about this before becoming pregnant for a third time with her ex husband. They both carried the same genetic trait for this rare blood disease that they had no clue about until their son was born with it. Any kids they had had a 50% chance of having it since they were both carriers. Now he has to have transfusions almost every month. Its a scary thing. More people should do it for sure!

  • Jay Simms

    This is a really great option. I love that moms to be can get genetic testing to prepare for anything that may come.

  • Ricci

    I love that the option to be prepared is available to women! Better to find out if possible than be caught off guard!

  • Maya Fitzpatrick

    I have a friend in Israel who went through genetic testing before trying to conceive and I know she was glad that she did. Ultimately it wasn’t in the cards for her and her husband and they ended up divorcing. Ultimately, it’s a personal choice, but I think people need to have the right information first so they CAN make that choice.