Sunday, August 26, 2007

10 weeks later

Tuesday will be the 10-week anniversary of my amniocentesis, which was done reluctantly, after a "positive" quad screen for Down Syndrome. One would think that after 10 weeks, I would have formulated some coherent emotional/intellectual response to the events surrounding the amnio, and some conclusions about screening in general, but honestly, I'm just as confused about it as I was during that scary time. I've sat down to try to process and summarize my thoughts and feelings several times, but every time I ended up walking away. Well, with the 10-week mark approaching, it seems like it really is time to clear my head, so hear goes.

I'm normally an information girl. Inquiring minds want to know, and all that. So, upon becoming pregnant at age 38, you would think that I would naturally have signed up for every kind of screening possible. However, after almost three years of infertility, I was not only reluctant to take any chances whatsoever with this precious pregnancy, but also, to be honest, I was reluctant to even think about the possibility that something could be wrong with little Eggbert. So, while my doctor, citing my 1 in 200 risk of chromosomal abnormalities, recommended amniocentesis at 16 weeks, I declined. I did, however, let her do the quad screen, which involved a nuchal fold translucency screening at 12 weeks coupled with a set of three blood tests at 15-16 weeks. Denial being my friend, I never seriously considered the possibility that the result might be "positive". But then it was, predicting an estimated risk of 1 in 35 of Down Syndrome.

That positive screening result turned my world upside down. While before I actually did the test, odds like 1 in 35 didn't sound too alarming to me. I had been very comfortable with my age-based risk of 1 in 200 (a result already scoring as "positive" on most screening tests), and even at 1 in 35, that means 34 times out of 35, all will be well, right? Well, while that is technically true, there is another factor involved in estimating the psychological impact of a risk estimate. When reacting emotionally to risk, I find that there are two factors that matter to me: the probability that something will happen, and then the suck factor--how much it will suck if it does happen. So, a risk of 1 in 35 of rain tomorrow doesn't cause me to bat an eye, whereas a risk of 1 in 35 that I will drop dead tomorrow would cause me become hysterical. It drives Mystery crazy that I freak out if he e.g. goes clambering around on coastal rocks like a mountain goat, displaying his natural athleticism and incredible sense of balance to all within visual range, because even though I realize that the odds that he will fall are low, the suck factor involved in watching my love plunge to his death would be enormous. The thing that I hadn't really thought through about screening was that a chromosomal abnormality diagnosis comes with a huge suck factor. Yes, children with chromosomal abnormalities can go on to have wonderful lives in some cases, but nonetheless, hearing that there might be something wrong with your beloved child is not something that's easy to take in stride.

It was hard. I freaked out. I cried. I despaired. I whined and pouted. I decided to have the amnio after all, not so much because it would affect the outcome of the pregnancy, but because I couldn't go on another 21 weeks in that mental state. I needed to know, and I needed to know RIGHT THEN. So, I had the amnio, and after several stressful days, I found out that Eggbert has the right number of chromosomes. We were in the 34 out of 35 category. That was a tremendous relief. Words can't even really describe the feeling. Honestly, it was kind of like getting the positive beta result--one of those days that changes your life. Still, it didn't change my life back to quite what it was before. One of the things that I realized during my fit of self-pity was that there's nothing special about me or Mystery that should make us exempt from the normal and abnormal stresses of parenthood. Infertility not only doesn't buy you a free pass from miscarriage (as we all know, many from bitter experience) or stress during pregnancy, but it also doesn't exempt your kids from the risk of disease, injury, death, or bad hair days. There is actually no reason to think that I "deserve" a kid with DS any less than anyone else. It was a sobering thought.

But back to my real focus here--having been one of the many "false positives" resulting from a quad screen or triple screen test, and as a result having suffered profound stress and worry unnecessarily, how do I now feel about screening in general?

I really don't know. I don't even know what I'd do if I were lucky to become pregnant again in the future.

From a logical perspective, the argument for doing the quad screen is unassailable. Crunching the numbers makes that clear. The risk of miscarriage from amniocentesis, if it is done between 16 and 20 weeks by an experienced practitioner at a high-quality facility is estimated at around 1 in 1600. The risk of a chromosomal abnormality is about 1 in 200 for a woman my age. The risk of doing no screening is that you will be blindsided on your child's birthday by a diagnosis that not only changes your life forever, but also may require immediate and effective intervention you your part to advocate for the best interests of your child. The risk of a "false positive" is about 5%. So, if you take a group of 1600 women like me, and

They all do amniocentesis right away, then on average:

1591 will receive a clean bill of health
8 will receive an early diagnosis of a chromosomal problem, and
1 healthy fetus will die.

If, on the other hand, they all do the quad screen first, then on average:

1520 will receive a clean bill of health
80 will get a positive screening result

If the women with "negative" results then refuse amnio, and the women with "positive" results all have amnio, then on average:

1592 will receive a clean bill of health
1-2 will receive a clean bill of health, but will then be blindsided with a chromosomally abnormal child on the birth day
6-7 will receive an early diagnosis of a chromosomal problem
0 healthy fetuses will die

So, if the choices are screening and going directly to amnio, from the perspective of the baby's health, the choice is clear to me. Both procedures will diagnose almost all cases of chromosomal abnormalities, but by choosing to do the quad screen first, the overall risk to the group of 1600 women of an amniocentesis-induced miscarriage is reduced to a negligible level. If I was a doctor, I'd recommend that my patients have the quad screen, based on these numbers. However, these calculations overlook two things:

First, once you actually GET that positive quad screen, your risk of miscarriage from amnio is still 1 in 1600, so given the outcome, you are still facing a difficult choice

Second, getting the positive screen is tremendously stressful.

How do you quantify the cost of that stress? I don't have any idea. Is it actually worth it? I don't know. What would I do if the situation came up again? I have no idea.

I did leave out one of the options. It's only fair to consider them all.

If nobody does any testing:

1582 will have chromosomally normal kids
8 will be blindsided with a chromosomally abnormal child on the birth day

Is that better? Is that worse? After 10 weeks, I still have no idea.

I do think that if the amnio result HAD shown a chromosomal abnormality, I'd be glad that I did the tests. But of course there's really no way of knowing.

I do know that I am beyond grateful for the fact that my little Eggbert has the right number of chromosomes. I realize that doesn't guarantee health or happiness, but I'll take it.


Rachel Inbar said...

This was a fantastic post. I know that in retrospect I was really happy that I did the amnio, but I definitely understand your not being sure about it...

Thanks for sharing your thoughts about it!

Samantha said...

It's hard to try to look at this was a clinically detached mind. Your numbers may be correct, but they don't reveal the mental agony. I don't know what I would do in your situation for certain, but I have a feeling I would follow the same path.

Lut C. said...

It shows that you're an information girl. You've certainly looked at those statistics from all the angles.

Factoring in statistics in concrete decisions is very difficult.

Tinker said...

You know, it's nice at this point that you have a certain amount of certainty (ie. that Eggbert's chromosomes are normal). For those who did no invasive testing, only the not-100%-certain screening tests, there is still a certain amount of trepidation about a birthday surprise, and that sucks too.

AshPash said...

Glad your little one has no chromosomal issues...clearly getting to that news weeks ago was not any easy process. If our FET results in a pregnancy, it would be difficult to do the amnio but so hard not to. Great post, Sara. I may have to refer back to it at some point.

Marie-Baguette said...

If I ever get pregnant again, I don't want to hear the quad test result and I will do the CVS no matter what. I am not sure you factored in your calculations the fact that the test can indicate everything is fine when in fact the baby has a problem. It happened to a friend of mine: the test was fine, but she insisted on getting the amnio and discovered her baby had Trisomy 18. I am very sorry you had to go through such a very difficult time. As my doctor put it: "Speaking in terms of statistics is hard, because, to a mother, her baby does not have a 1 in 35 changes to have DS. The baby either has it or not". You don't talk about your pregnancy but I guess it means everything is going well for both of you (and Mystery Man). Thanks for all your comments on my site.

Baby Blues said...

I'm so glad Eggbert is fine. I hate that they made you worry over a false positive. But I would have done the screening too. Simply because I'm a "be-prepared-for-the-worst" girl who hates being blindsided by bad news.

Anonymous said...

Very good post. One thing you did not factor however. If nobody does any testing, there will still be a certain (small) number that will miscarry anyway for other reasons. By the same token, if those individuals had the invasive test, there wouldn't be a way to know for sure what caused it. I know this doesn't add clarity, but it is worth conisdering.

Anonymous said...

I am also impressed by your post.I do however think given your Advanced Maternal Age (it offends me because I am 38 as well, but that's what you are called if you are pregnant over age 35) in this situation they should have offered the amnio and genetic counseling instead of a Quad screen. You are at a higher risk given your age so why mess around with a screening tool, why not go to something that is diagnostic?