Genetic Test Results

June 9, 2010

The last batch of doc visits have been different from what I did the first time I was pregnant. This time, the bloodwork and nuchal fold test, a screen that measures the amount of a certain hormone in the blood along with the measurement of the back of the fetus’ neck, came back not so great.

These tests show the risk of having a baby with Down’s Syndrome or two other chromosomal defects called trisomy 13 or trisomy 18. My risk, as a 40 year old, is 1 in 75 for Down’s. The baby neck measurement came back within a non-risky range, but combined with the low hormones in my blood and again, my age, my risk decreased a bit to 1 in 72 for Down’s.

“I know this is disappointing, Mister L.,” said our awesome OB. “You asked for everything to be the same as when you were pregnant with Toddler L, and this isn’t.”

When I had that test before, the same doc congratulated me when she got the results, saying my risks were the same as a 20 year old’s. That is to say, miniscule.

With this higher result, we decided to do an earlier invasive test that would definitively tell us if the fetus has Down’s Syndrome or one of these trisomies (which I had a very low risk for developing). If I wanted to wait a few more weeks, I could have had an amniocentesis, which takes a bit of amniotic fluid from the uterus through a needle in the belly.

But since we wanted to know right away, I ended up having a Chorionic Villus Sampling, or a CVS, which takes a piece of tissue from the placenta. The options are to take it through the cervix, or through the abdomen if the placenta is in an area that can’t easily be reached.

We were told the Down’s risk on a Friday, and by the following Thursday, I was in to have the CVS. Throughout the week, Mr. L and I would say “good thoughts” and we do this ritual where we rub a clay and ceramic painted pomegranate in our bedroom (a symbol of fertility) and say “Woo, woo, Go Lima.” (This is leftover from our first round of IVF, where we bought the pomegranate at an art fair because, hey, why not?)

(Our working name for the fetus right now is Lima, as in, it’s the size of a lima bean. Mr. L. sometimes calls it Lima, as in the capital of Peru. “It’s not Peruvian, unless there’s something you haven’t told me,” I’ve said.”)

We’ve done a lot of pomegranate rubbing recently.

The day of the test, Preschooler L was at school early and the Mister and I went to the hospital. There’s no anesthesia, but I took a couple of extra strength Tylenol as a pre-emptive measure. (Some past vaginal tests have been excruciating.) At the same time, being an infertility vet, I told the doc about my tipped uterus, my raised cervix, the advice past IVF docs have told us about “going in at 7 o’clock,” and my plea to please use the smallest speculum possible, as again, past experience has been excruciating.

The doc did as directed, and was pretty nice about our type A explanations and questions. This doc happens to do a lot of these CVS procedures, which means his experience hopefully will translate into no miscarriage. (The rate of miscarriage following a CVS is about 1 percent, something weighing heavily on our minds. But the truth boiled down to that if the fetus was found to have a chromosomal problem, we’d be much more inclined to terminate, as tough and painful as that would be, and it’s easier to do that at 13-15 weeks with the results of a CVS versus a 18-20 weeks if we’d waited until the right time to do an amnio (which has a lower miscarriage rate, but again, can be tougher to terminate after your belly is swelling a bit more and you are more likely to feel movement.

Shockingly for me, the speculum was the toughest part of the procedure. Once that was in, the doc somehow got where he needed to go past my cervix and got the right amount of tissue from the right place… without me feeling a thing. At the same time, I was breathing deeply and staring at the ceiling (at these ceiling tiles that had the texture, of ice cream, of all things) and clutching Mr. L’s hand.

A day later, I got a call from a genetics counselor (which, I’d forgotten, I’d met an hour before the CVS. She had explained all the details of the test and when we’d get the results.). Initial results come about a day or two later, but the full chromosomal analysis is done in two weeks. From what the genetics counselor told us, the initial results are about 95 percent accurate, and are 100 percent accurate with the full result report. Of course, there could still be some chromosomal problem that the test doesn’t measure, but the results, when good, seemed as reassuring as they could be.

The initial results were… all normal for Down’s and for the trisomies, thank God. We’re still waiting for the final results, which should come right before Father’s Day, and once we know they look good, we plan to tell our families as they are having a meal at our house in honor of Father’s Day.

Hopefully things will go well.

I actually went back to the OB’s office where a nurse practitioner did a heartbeat check. They did one immediately after the CVS and confirmed the heartbeat was good and strong, and the heartbeat check yesterday (five days later) also showed a strong heartbeat. So thankfully, I did not miscarry as a result of the CVS.

The NP asked how the pregnancy was going, and the truth is, I’m so focused on my blood sugars and which was my Dexcom is trending that I sometimes feel like the actual pregnancy is on the back burner. It isn’t, of course, but I’ve thought about my diabetes and my current kid a lot more than I’m thinking about the progeny of this pregnancy. Pregnancy the second time around, for me, has been more worries about high blood sugar excursions despite my admirable and recommended-for-pregnancy A1cs. I haven’t even glanced at one of those “what is your fetus doing this week” emails or websites. All I care about is if my sugars are in range and if I’m eating relatively properly.

So far, the rest is taking care of itself.