To PGD or not to PGD

I often explain to patients that the decision process regarding genetic screening is complex, as the testing choices are complicated and the feelings and emotions surrounding the testing and results are very complex. I feel there is so much I can say on this topic, but in the interest of brevity; I won't. I strongly feel that all patients should be presented with the option of testing, and the decision to proceed should be placed in their hands.  I'm bothered when clinics or offices require patients to have some form of screening. A few months ago, I saw a 39 year old woman who presented with her first pregnancy. Her infertility work up revealed a large fibroid, and after her RE performed a hysteroscopic resection, she conceived spontaneously. When I reviewed the testing options with her she replied, "Oh, yes. My RE told me we'd be doing this." I started to explain to her that it was actually her choice if she wanted to pursue any screening, but she cut me off. "My RE wants me to have this test done." I quietly sighed inside my head. Such is the power of a RE recommendation. I'm sure if her RE said 'jump', this patient would ask 'how high?' I was really tempted to tell her that especially as this was a spontaneous conception, and her RE had less of a directly vested interest, she probably didn't give a shit what this patient did for genetic screening. Just make your own damn decision woman!

I already knew what my decisions would be. Even before I was officially in the advanced maternal age category, I knew I wanted to do diagnostic testing. I didn't want to rely on ratios. I didn't want to have to wait 7-10 days for a result, and if it were positive, need to wait to meet with the genetic counsellors and schedule an amnio at the last minute. Just go for the gold straight away. I also knew I would want to do this testing as early as possible, so I was initially planning on doing Chorionic Villi Sampling (CVS). We met with a genetic counsellor for a pre-conception visit and to have carrier screening performed. I wouldn't even remove my IUD without those results. I figured if we were carriers for Cystic Fibrosis or Spinal Muscle Atrophy; it would be game over. (Isn't it so cute how over prepared we were?) I told the counsellor about my interest in doing CVS and she quoted their complication/miscarriage rate at 1 in 300. Less than 1% didn't seem too risky.

After our first few months of TTC proved that conception would be harder than we thought, I began to reconsider my plan. The 1 in 300 complication rate was seeming much higher than my probability for pregnancy. I decided my new strategy would be to do the first trimester blood work and Nuchal Translucency (NT) ultrasound. If those results were abnormal, I could do CVS, but if they were normal, then I could have my amnio in the second trimester. As I did back in my early TTC days, I looked ahead to see when my testing window would be if I conceived in May of 2012. The test dates fell right in line with our two week trip back to England for the Olympics.

I started to complaining to Myrtle that this would mean yet another month of postponing conception due to this bloody England voyage. She couldn't quite comprehend why we would delay. "I'm sure you'd be fine." she assured me via text message. "I'm older than you and my baby is healthy." Of all the irritating things that Myrtle has said to me, (and we know there have been many) this one resonates the most. Firstly, as I replied to her, if were to conceive that month, we would be at the exact same age of conception (I now have a year and a half on her). Secondly, I just heard her as bragging; ...and my baby is healthy... Furthermore, I was annoyed by her illogical conclusion. It was as if I was entitled to a good outcome due to the proximity of our friendship. Applying that rationalisation, I should be fertile too. Mostly, I think at that moment, when I saw those words "my baby" it truly hit me that Myrtle wasn't merely pregnant; she was having a baby. I was trying to coordinate genetic testing for a hypothetical baby that wasn't even conceived yet. My baby. Two words I still can't even use in the same sentence. I felt like I was in this scene from Bridesmaids.

"This is my husband, Kevin. You don't have a husband. Shit!"

To Myrtle's credit, she recommended that we try anyway. After all, "you never know..." In particular, we didn't know we were infertile at that time. On our TTC resume, May 2012 would represent our best efforts. We managed coitus every other night during bang week, including my birthday -whoo-hoo! Too bad my ovaries waited until we were in separate countries before ovulating.

Now as I'm in the process of doing IVF, I have the option of pursuing Preimplantation Genetic Diagnostics (PGD). I'm finding that the decision process is complicated and my thoughts and emotions regarding the testing and results are quite complex. In the most straight forward respect, it is consistent with previous intentions to test as early as possible. If I do become pregnant, it's one less anxiety, one less concern. It means I could tell my parents about the pregnancy much sooner. I wouldn't have to deal with ratios or risk an invasive procedure such as CVS or an amnio.

As a footnote to this testing option, it would also mean possibly knowing the potential baby's gender or even being able to influence the decision. This is in conflict with my pre-infertility plans to keep the gender a surprise until birth. I just can't deny my heart's volition that I really want to have a baby girl. While I would be happy to have just a baby, as it is our intention to only have one; if we were to have a boy, I certainly wouldn't be disappointed, but I would mourn the loss of a daughter. Where as I don't think I would mourn the loss of a son if we were to have a girl. (Referring to another Bridesmaids quote, maybe I've been tainted by this description: "They're smelly, they're sticky. They say disgusting things, and there is semen everywhere. The other day, I cracked a blanket in half. Do you see where I am going with this? I cracked it in HALF") Seriously, does semen destroy fabric fibers like that? Perhaps that was my strategy behind keeping the gender a secret until the last moment.  How would I feel if we only had male embryos available? Please accept that these are my brutally honest feelings on this subject.

In most other circumstances, making a decision can be assisted by weighing what you have to gain and what you have to lose. In this case, it's not so clear cut. Certainly this adds to the cost of an already expensive endeavor and ups the ante on a gamble already in progress. It may not be necessary; we could get a decent yield of embryos, select a good one and get lucky on our first shot. Although it seems really farfetched and feels rather daft.  At the same time, transferring a euploid embryo doesn't guarantee a successful pregnancy. It only means that if I get a BFN after our transfer, I won't be left wondering if the failure was due to a chromosomally abnormal embryo.

That's my ultimate gain. Regret Management, as Jessah from Dreaming of Dimples describes it. I've been trying to have a baby for nearly two years and I'm not getting any younger. In fact, Husband and I are really getting close to the age of forty. How much longer do we continue before we feel that we're too old and we loose interest? I don't want to wait any longer than we need to. I'm tired of having my life on hold. I feel an obligation to do whatever I can to help improve the outcome. I cringe when I think about what this is costing. I shutter to think how it compares to Myrtle who got her baby girl on her second attempt. It's the price to pay for delays both self inflicted and unexpected. Having a regret-free conscience: priceless.