The Gene Screen

When you are over the age of 35 and pregnant you fall into a group I won't call high-risk because it makes me feel like a bungee jumper or spelunker. I prefer to use extreme-care or hyper-vigilant to denote the little extras tests and monitoring they give you when you are ahem - more mature than other whippersnappers in the waiting room.

Everybody gets offered genetic screening when they are pregnant, but we extreme-care mothers are usually strongly recommended to take part in these tests as certain genetic abnormalities seem to occur more frequently in older mothers. Sound like a textbook? I've done my research. So at about 11-12 weeks they do a blood test and ultrasounds, measuring for various physical indications as well as blood levels to detect whatever stuff it is that might provide a clue whether or not your baby is at risk.

So I get my tests, including a very innocuous finger prick and a pretty good-looking ultra-sound if I do say so myself. Then two weeks later a nurse calls with the results. The thing to remember with these results is that they are probabilities, estimates of risk. If you took Statistics in college, now would be a good time to remember some of that information to get a grip on some of the numbers they give you.

The nurse spewed off three sets of ratios for my risk, my results with my age, my age alone and an average 35 year-old's risk. She's rather cheery and sweet, but the information she gives me is that I have a positive risk for Downs as a result of my tests and the ratio is 1 in 98. She suggested an amnio centisis to get definite results and wished me good day.

So I kind of panicked. 1 in 98. Good odds for a horse, right? That means 97 other babies came out perfectly healthy. Still the number seemed scary as I looked at my notes from her phone call and I called my sister, her husband the doctor, my father, my mother, my girlfriends and of course Justin. Over the next two weeks, I searched websites and read tons of blogs about Downs Syndrome, 1st trimester screening tests, and amniocentesis and the risks involved with that. I know amnio is performed with an ultrasound and there are millions of women that have had successful procedures done, but I couldn't shake the image of a long needle puncturing B the G's little water balloon we built in there. My warm fuzzy pregnancy glow began to fade to a dull, weak 25 watt attic light bulb as I tried to find out the best decision for moving forward with this news.

Too much information is a dangerous thing and with the internet, I could get any kind of information I wanted to back up any opinion I began to form. Countless blogs and web-chats from women with false positive tests for these screenings. High risk of miscarriage for amniocentesis. Low rates of miscarriage for amniocentesis. My doctor gave me a ratio of 1 in 300 for risk of miscarriage with amnio, but said the important thing to remember was what I was going to do with the information once I found out the results. In other words, would I terminate if the baby was positive for Downs Syndrome? If so that's one thing, if not, why risk it? Heady stuff.

I am not a religious girl so I have no ideology or doctrine to fall back on regarding this subject. But I have developed a healthy dose of spirituality based on various readings, my own experiences, and pure gut instinct, especially lately. I pondered all of this for a few days, re-thinking care of a special needs child, my miracle pregnancy and this latest information. Justin comes from a very anti-medicine background and is suspicious of all invasive procedures and tests that aren't deemed absolutely essential. Did this mean he was prepared to care for a special needs child? Was I? His answers were always vague, sort of wait and see type of words, which I know means it's ultimately up to me to decide.

So I decided. I knew there was no way I could terminate this baby no matter what the tests said. If this baby was supposed to be my baby, coming to me so late and right before my adoption, and she has special needs, than that is the baby I am supposed to mother. Sounds dreadfully Calvinistic and pre-determined, but I just can't deal with it any other way. I went through the same fears with adopting albeit with different illness and developmental issues, and forged ahead anyway. This was no different.

My doctor scheduled another ultrasound to give me another look-see and determine if they could find anything else out that might give me a clearer picture, as some physical traits are evident at 15 weeks. When Justin and I arrive the tech is surprised to see us as it's a few weeks early for our anatomy screening, which usually happens at 18-20 weeks. I explain our screening test results and what we're there for and she squirts the gel on my belly and we're on our way. I am in awe of the tiny creature on the screen, wiggling and swimming around inside of me. I can't take my eyes from the screen and am crushed when it's time to go. The peri-natal doctor comes in to go over the results and also asks us why we are there. Again (do these people even talk to each other?) I explain our 1 in 98 results and that we are there to try and avoid an amnio and see if there are any other physical traits to give us a clue about the Downs.

She says, "You're not 1 in 98. You're 1 in 271 for Downs. 1 in 98 is your risk for Downs based on your age. AFTER your screen your results were 1 in 271. Your risk decreased but reads as positive because it's slightly higher than a 35 year-old's risk of 1 in 294 which is basically where the line is drawn for this screening. You don't need an amnio."

Is it me? Are these little glitches in the system meant to test my mettle so to speak? Make sure I'm really a player in this thing rather than the cute cheerleader on the sidelines I always preferred to be? From the adoption to the pregnancy, it's truly uncanny the way these hurdles keep surfacing.

So after going through two weeks of angst and anxiety and ultimately resignation and acceptance I was suddenly set free again. 1 in 271?! That's a cakewalk, man! Bring it on! I suppose I could have been angry at myself for misunderstanding or at the techs and physicians that gave me this confusing news and let it go on so long without checking my records for clarification. But in the end, I was just happy to have my glow light flicker back on and also to know that I was committed to this baby and her arrival into my life regardless of her health or condition. And while I KNOW after this newest trial and everything that's gone before that there are no guarantees in life (Are you listening, Universe? I know! I get it, for Chrissake!), I do feel rather confident after the tech pointed out her labia, that B the G is a girl.