Genetic Testing: To Test or Not To Test.

If going the IVF route, you are likely faced with this dilemma- to test your embryos or not to test?

Genetic Testing (otherwise known as PGS, preimplantation genetic screening), is when one or more cells are removed from an IVF embryo to test for chromosomal normalcy. The genetically normal embryos are kept for transfer, and the abnormal embryos are discarded. 

This type of genetic testing is usually recommended to the following people... 

  • "Older" women (over 35) 
  • Women who have had multiple miscarriages
  • Couples who have struggled with infertility
  • Couples concerned with passing on a specific genetic disorder they know they carry

The idea is that if you transfer genetically normal embryos you have a much better chance at getting pregnant, staying pregnant, and delivering a healthy baby without disease, disorder, or mutation. 

Sounds like a no-brainer, right?

Not exactly. 

We struggled with this decision for quite a while, actually. In fact, for our first IVF retrieval of my own eggs AND our first egg donor attempt, we had decided against it. No, thanks. Who am I to say I deserve a genetically perfect baby? I could love an abnormally genetic baby just fine, thank you very much.

Not to mention, it's expensive! When you are already drowning in debt, it's hard to fathom adding on an additional $3k-8k for something that may not really matter that much. I wanted every embryo we could get our hands on, perfect or not. I just couldn't wrap my head around our imperfect embryos being tossed in the trash and not given a chance at life.

I just wanted a baby, perfect or not. 

But, was I being selfish?

Maybe. Maybe not. 

I've crossed paths with plenty of beautiful, inspiring human beings who have some sort of disability or disorder. This imperfection doesn't make them any less of a human. It makes them unique. Would their parents have discarded them had they known they would possess this imperfectness?

NO,  JUST NO!

AND... the testing isn't 100% fool proof. It's been reported that in some cases, genetic abnormalities are dying off while in the womb and resulting in healthy babies. And, on the flip side, genetically normal embryos don't guarantee that your baby won't have any complications. Once pregnant, you will still have to go through all of the state testing to determine your baby is healthy. No free passes! 

genetic testing

I was so desperate to be a mother and to love someone. It just didn't matter to me. I kept thinking - I'm not perfect, and I am loved. 

I have endometriosis, a painful disease where my uterine lining grows outside of my uterus, that has ultimately made me infertile. I also have psoriasis, asthma, and obstructive airways disease. I have an extremely low immune system, I'm sick often. I'm positive for ANA (Antinuclear Antibody) which could be indicative of a future autoimmune disease that hasn't presented itself yet. I am a carrier of Fragile X, a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. I still have a baby tooth and considered a "freak show" every time I go to the dentist. And to top it all off, I actually still possess a gill on my lungs that I never lost as a fetus, yet can't seem to breathe underwater. 

Such a waste of a gill. Ugh.

So, no I'm  not perfect.

But, I AM loved. Flaws, and all. 

why we decided to do genetic testing

After a year break from fertility treatments, we decided to change doctors and go with a doctor who had some of the highest success rates in the nation. We soon found out that he required genetic testing of all of his IVF patients, even egg donor recipients  - hence, his high success rates. 

I argued this topic with him, " with all due respect doctor, I totally understand why you would require genetic testing if I was using my own eggs - I'm "older", I have endometriosis, after four years of fertility treatments, I've never been pregnant, and am a carrier for possible genetic disorders. BUT, if we are using a 26 year old, healthy, fertile egg donor, why on earth would we waste good embryos?"  

His response was simple...

"Victoria, just because she is 26 years old, doesn't mean all of her embryos will be genetically normal. You have fought so hard to become pregnant, and my job is to get you pregnant, keep you pregnant, and give you a healthy baby at the end of all this. Miscarriage isn't something we want to add to your list." 

Point taken.

He also explained that with abnormal embryos our odds would be must lower to result in a positive pregnancy. This would mean extra expenses of additional IVF transfers, and quite frankly, I was just so damn tired of getting negative pregnancy results, and pumping my body with hormones month after month.  I just wanted to get pregnant and be done with all of this for a while! 

After doing the math, a few extra thousand dollars up front could save a lot in the long run. Not to mention the cost of pain and suffering. You can't put a price on that. 

I have encountered many women who have struggled with infertility, finally got pregnant and then miscarried.  My heart breaks for them in a way I can't describe. How could you fight so hard, finally get your rainbow after a brutal storm, fall in love, and then have it brutally taken away? If that happened to me, I honestly don't know how I would go on. Those women are true warriors. 

My doctor was right though. 

Upon the egg retrieval of our new egg donor they retrieved 31 eggs. Of those 31, 21 fertilized with my husbands sperm and became embryos. Of those 21, 9 of them made it through to testing and of those 9, 3 were genetically normal. THREE! 

Out of 31 eggs, 3 resulted in normal embryos. Yikes.

I remember my response to him giving us these results. I got really, really angry. How could this be? I asked " Only three??? Are you really sure that all the ones you threw away wouldn't make it? Is it too late to get them back? HOW DID THIS HAPPEN???" I feel like you I should have had a choice to keep them or not. Now my babies are gone forever! 

He responded "Victoria, did you really expect all 9 to be normal? That would have been a miracle. Three is a really great number! ".  I'm guessing this was his way of saying "Bitch, you cray."

Clearly, he doesn't know how competitive I am. I had already decided that we'd have at least 7 normal embryos, 6 would be worst case. Don't ask me how I came up with this math, but it was what I believed. 

After some time of grieving the other six embryos, I came to a place of peace with our three. I was so lucky to have three chances to get pregnant and I knew I needed to be grateful. I AM grateful. This means, best case we could have three potential children, that's seriously magic! For the first time, I felt like we had a family. A family of five!

Genetic Testing of embryos

Sorry, seven. 

IVF and genetic testing

Had our doctor not required us to do the testing, I'm not sure what we would have chosen. I guess I'll never know. There are pros and cons to either direction. In the end, I'm grateful for the path we took. I'm proudly carrying a healthy, growing baby in my belly at this very moment, and we still have two more embryos on ice waiting for their chance at life! 

My advice is this - the decision to do genetic testing is a personal one, and should not be judged. It's for you and your partner to decide and only you.

Well, unless your doctor requires it :)