Prenatal Screening in Ontario: part 2

If you haven’t read about my prenatal screening experience in part 1, head on over and check that out first.

Disclaimer: I am not a health professional nor providing health or medical advice to readers. All content on my blog are personal experiences and opinions.

My prenatal screening results

At Week 19, I got a call from one of my midwives telling me that I had screened positive for Down syndrome. The odds were 1 in 240.

We generally tend to focus on the odds of having a baby born with Down syndrome (which in my case was a 0.42% chance) as opposed to the odds of having a baby born healthy (which was 99.58%). When you hear the words “screened positive”, it’s not a great feeling, but it’s also no reason to go into complete panic/disappointment/fear/sadness/anger.

Screen positive

Your results can either come back as Screen Negative or Screen Positive. They are all based on numerical calculations taken from your IPS/FTS/SIPS results, along with your odds as a mom to begin with (your age would be a factor here).

Screen negative means that the chance that your baby has Down syndrome, trisomy 18 or Open Spina Bifida is lower than the cut off number set by the lab/centre that is evaluating your result. This is a great result!

Screen positive means that the chance that your baby has Down syndrome, trisomy 18 or Open Spina Bifida is higher than the cut off number set by the lab/centre that is evaluating your result. This result is less desired, but does not mean it’s the end of the world!

The cut off number that my results were going by was 1 in 300. This meant that any odds lower than 300 (for example, 1 in 330 or 1 in 2000) would lead to a Screen Negative result. Since my odds were higher than 300, I got a Screen Positive result.

I have spoken to other moms about their results, and some were getting 1 in 240, and considered a Screen Negative – so it all depends on the lab that is evaluating the tests. I’m not sure how the standard is set, so if anyone has any insight on that, please feel free to comment below.

The next steps

My midwife gave me two options: I could either do nothing with the result and carry on with the pregnancy, or I could go to see a genetics counsellor to discuss our options in further testing. Jon and I decided to get referred to North York General Hospital to hear them out, and explore some of the options available to us.

The process getting into NYGH was really fast – I got a call from my midwife on a Wednesday night; NYGH called me on Thursday morning to let me know I had an appointment on Friday morning.

We met with a wonderful genetics counsellor at NYGH, who went through the options very clearly. She explained our results with a lot of detail, down to how the numbers factor into the final “verdict”. She made us feel very comfortable with the results and in fact, made me pretty confident about everything being okay.

The options offered to us

Here were my options for next steps:

  • Do nothing
  • Amniocentesis
  • Non-Invasive Prenatal Testing (NIPT)

Do nothing – okay, this one is pretty self-explanatory. Most babies go on to be born healthy, so it’s a very wise decision if you don’t plan to change anything about your pregnancy or life regardless of what your results were.

Amniocentesis – this is an invasive test which I didn’t really like the sound of. It involves sticking a needle through your stomach, to draw out amniotic fluid that’s around the baby (without touching the baby). Similar to a biopsy I assume. It carries a very small added risk of miscarriage, which was enough for me to say no. The good thing about this test at NYGH was that it could be done right away, with results ready the next day. This is a diagnostic test, which means it can tell you for sure if your baby has Down syndrome or not. It can also tell you the gender if you’d like to know.

NIPT – like its name, this is a non-invasive blood test. It involves taking out one tube of blood right there at the NYGH blood lab, and waiting about 2 weeks for the results. NIPT testing is so new that there are no labs in Canada that process it, so blood samples get sent out to a lab in the US.

Although it’s not officially a diagnostic test, we were told that the detection rate for Down syndrome is over 99% with a false positive rate of 0.1%. So that’s pretty much a “for sure” result. It can also tell you the gender if you’d like to know.

Our decision

We decided to go with the NIPT. We knew the results wouldn’t change anything about the future of our pregnancy, but if we were faced with a high chance of Down syndrome, we wanted the chance to prepare and educate ourselves with that possibility ahead of us.

The test we took was called the Harmony test, which is the brand name of the NIPT offered through NYGH (there’s also another brand called Panorama which I’ve heard other moms take). The counsellor gave us a little Harmony cardboard box with all the stuff needed to do the test, and the whole box gets then shipped to the Harmony lab (which the hospital took care of – I only had to provide the blood). I headed down to the lab, gave the nurse the box, and was out of there in a couple of minutes. Easy peasy.

Our results

Just before the two-week waiting period was up, I got a call from my Genetics counsellor. I told her I was sick with a cold that day, so it was amazing to hear her say “I’ve got some good news that will make you feel better.” The NIPT results came back, and my odds went from 1 in 240 all the way down to 1 in 10,000+. Relief!

NIPT as an option for your Prenatal Screening

NIPT testing can actually be done electively as early as Week 10 of your pregnancy, as I had mentioned in Prenatal Screening in Ontario – Part 1. If you are under 40, you can choose to skip IPS/FT/SIPS and go straight to the NIPT testing – but be prepared to shell out anywhere from $500-1000 for the test. It doesn’t hurt to ask your health care provider about this option. If you are 40 or over, you should check with your health care provider about OHIP coverage, because a 40+ friend of mine was able to do the NIPT for free at week 11.

For me, the NIPT was covered by OHIP because of my Screen Positive result after my IPS.

Deciding whether or not to do prenatal screening: hindsight

As a couple that likes to have control and knowledge, we wouldn’t change our decision in prenatal screening if we had to do it again. But it’s not for everyone – if you get worried easily, the process of screening and waiting for results can be pretty painful. It’s a very personal decision, and know that there are people out there who have gone through the same thing and can provide support. Indiviudals from my Facebook group were super helpful. I also give a lot of love to the Genetics counsellor at NYGH (thank you Julia!) because she helped put things into perspective for us and did it with amazing bedside manner, compassion and a realistic approach. I’ve even forgiven the midwives clinic for their huge fuck up in all of this.

Looking back, I was glad to maintain a rational head on my shoulders during this whole ordeal (which lasted about 2-3 weeks). I’m a laidback and calm individual to begin with, and it was important to both myself and Jon to maintain that attitude – especially since upon getting our results, we realized we never had much to worry about.

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