Wednesday, July 26, 2006

The Ostrich Approach

The visit to the perinatologist-- There's so much to say and at the same time, so little. He spent a lot of time telling us about different chromosomal issues that could come up, and we spent a lot of time patiently listening to him. (For the record, we're there because of Partner's age: 37. It puts us in a higher risk category for certain chromosomal disorders.) It was a lesson for me-- If I am ever in a situation like that, I'll try to ascertain how much a person knows before (surface) lecturing them on a topic. I would have thought when I referred to Cystic Fibrosis as autosomal recessive, he would have copped on that perhaps I knew a little more than he was giving me credit for. But then again, maybe not. In any case, we were intent listeners. What we got from the consultation may help some others who are in this position, so I'll try to sum up in a helpful way and then explain our own choice. (Feel free to skip the test summaries if you know it already.)

One: There are screening tests and diagnostic tests. The screening tests, the quad screen and the nuchal transparency, have the advantage of no risks associated with them but the disadvantage of having fairly high false positive rates. In terms of the quad screen, the false positive rate can be 10-15%! The nuchal is slightly less with its 3-4% false positive rate, but a positive is any odds greater than 1 in 270. Huh. Now to me, a false positive sounds horrible-- and once you get a positive, you need to make a decision: do you now go to a diagnostic test, the results of which are apparently irrefutable?

Two: The diagnostic tests, CVS (Chorionic Villi Sampling) and aminocentisis will tell you definitely if there is a chromosomal abnormality, but the risks of miscarriage are greater here. One could argue that it's pretty minimal in the case of the amino, with a slightly higher risk with CVS. (Dr. BusyBusyBusy told us to stay away from CVS and since we love him, we're listening.) It will take approximately an agonizing two weeks to get the results from these tests and be in the clear for miscarriage risks.

Three: There's a timing issue with all these tests. If you want the nuchal, it has to be before work 14, which is rapidly approaching for me. At this test, they will do crazy measurements of neck tissue and then plug in these measurements along with the results from your PAPP-1 blood test (also essential for the quad screen, and this first blood draw will also need to be completed before week 14). If this test comes back negative, breath easy (or easier). If not, then you will have to decide-- do you want the CVS, which can be done immediately but with higher risks of miscarriage than the amino? Because if you want to wait for the amino, you've got another two weeks on your hands to live with the positive from the nuchal before you can even get the amino, and then two weeks again after that to be in the clear and get the diagnosis. Of course, you can have the amino earlier, but the risks go up again! (Surprise!) Could you really wait? the perinatologist asked us, and we sat on the too comfortable love seat with our mouths agape.

Four: If you just want the quad screen, you need to quickly get in for the PAPP-1, the first blood draw, wait a few weeks, and then go back for the other three blood tests, and again, a crazy algorithm is employed and voila! Your results are in... But don't forget that insane false positive rate. If the test is positive, again, do you now do the amino? You know the risks and there's always the tragic option: you have the amino, you miscarry, and two weeks later the diagnosis comes in: normal. Shit. I can't even imagine. Or, you have the amino and two weeks later the diagnosis says, "Yes, your kid has a trisomy 18 and will die soon after birth after being hospitalized for months." Or, "Yes, your child has trisomy 21 and will be born with Down's Syndrome."

We walked into that appointment sure that we were pushing for the nuchal and quad, and we walked out in a fog. We sat with our perinatologist for a long time and talked about the ins and outs of all of this. I called my mother who wisely said she wouldn't know what to do unless she was in the situation, but took all sides very seriously. At the heart of the matter is what you do with the information, and at the very heart of that heart is the question that lurks: if you find out the kid is not chromosomally normal, are you going to terminate? Or do you just want the knowledge to have the knowledge?

As you might imagine, Partner and I talked a long time about this. It involved some really intense discussions that have brought us even closer together. Here's the thing: We both already love Cricket. Cricket is very real to both us, and to think about terminating at this point, for us, is too much to think about, although we both took care to note that was purely our decision, others might decide otherwise, and we get that. Like every parent, we just want our kid to be normal, but if its not, then that's what we get. We spent more money than we had to get here. This was our last cycle of IVF with Partner's eggs, and it worked. Maybe that's all that is important right now.

I also decided that when you have kids, everything could be an odds game. If I let my kid swim in that lake right now, the odds of him drowning are 1 in 2,811. Should I let him go? If I let the child go in a car, ever, her odds of being hurt in an accident are 1 in 228. The odds the children will be a victim of assault: 1 in 211. Maybe this is our first lesson in letting go a little. It's dangerous to be a kid, but it's so much fun too. Don't you remember climbing up the branches on the tree that would be bend under your weight and waving down at your mom, who was imploring you to maybe just come down a few branches? But the thing is, that initially your mom let you go that high, even if she wanted you to come down immediately afterward. As a parent, there was a risk, an assessment, and choices made.

We won't be able to protect our children from any of the scary odds all the time. We'll do what we can to lessen the odds, like we'll teach them to swim early and we'll never let the car roll without a seatbelt and there will never be a firearm in the house, but... Everyone knows what happens to the best laid plans. Eventually you need to just do what you can to sway the odds, but also trust in the universe at large.

So that's the thinking that has lead us us to our choice. I can eat right, exercise, take my prenatals, get good prenatal care, mediate, read, etc-- all things to sway the odds of having a healthy baby and what I can't control, I just can't. So we're going to, some might say, stick our heads in the sand and hope for the best. No genetic screening tests at all. Goodbye nuchal-quad-cvs-amino fears and hello naive but hopefully not ill placed trust in the universe.

Sometimes it feels really good to let go.


Blogger Nik said...

We did no tests. It's bad enough having to imagine all the things that could go wrong, let alone stressing about false positives. I say, go forward into darkness--whose to know what any light into the situation would bring.

12:20 PM  
Blogger amyesq said...

Good for you two for making the right decision for you.

1:09 PM  
Anonymous Anonymous said...

We did the same thing, no tests except the 20w u/s. I just couldn't reconcile doing a test with a high rate of false positives AND false negatives that might lead to "needing" an amnio with the fact that we had no risk factors. I think I would have worried more if I'd had the tests that they were wrong than I did having skipped them entirely.

It's great that you were able to come to a decision on this together.

1:14 PM  
Anonymous Anonymous said...

Darn it, that was Erin from It wouldn't let me put in my info. Not trying to be anon!

1:14 PM  
Anonymous amanda said...

There's definitely something to be said for the sticking your head in the sand approach. All of the testing stuff can be pretty overwhelming. I'm glad you guys could come to a decision that you feel good about.

1:49 PM  
Blogger frog said...


2:10 PM  
Anonymous Jenn said...

It's a hard decision to make. With multiples the "false positives" (though it's really not a positive since it's screening and not diagnositc) are even greater. That said, we did it. I have a family history of Down's and I needed to know. If it had come back with an elevated risk we really would have had to think about whether or not to have the amnio. Thankfully I didn't need to. I was ok with the other testing because it posed no risks. But I wanted to know, I'd need time to prepare for a special needs child (or two).

2:16 PM  
Anonymous Manuela said...

You know what... you are describing EXACTLY how I'm feeling about this matter... It was reassuring to read your take on the choices as well...

Smooches to you both. Or... all THREE of you!

2:22 PM  
Anonymous Anonymous said...

I like your approach, we had the triple screen blood test (AFP, etc.), but not the nuchal, and with my daughter, the AFP (alpha feta protein) came back with an extremely elevated risk for Downs. So, we then did the amnio, and after two LONG weeks of waiting, everything was fine. That was the longest 2 weeks of our lives, and by the time we got the results, I had felt the baby kick, so you know, all of the testing was then moot anyway! All of this to say, if I had it to do ALL over again, I would do just what you two are doing, knowing that nothing those tests tell you are going to change anything, and the stress is unbearable. Besides, the 16 week sono does a spectacular job of telling a great deal of the story about your baby's overall health.

2:24 PM  
Blogger Gretch said...

Sounds like a good plan for the two of you! I used to work in a lab where the genetic screens were done... and I can understand why some folks make the decision to go ahead with them - but I made up my mind while working there that for me, it just wasn't worth the risk of miscarriage and concern about false positives.

2:30 PM  
Blogger The Town Criers said...

I love this post--especially the odds game that you play as a parent. There is no easy answer, and I guess you can't have regrets about choices.

2:53 PM  
Anonymous Anonymous said...

I have been following you guys for about 6 months (virgin poster!) and have fallen in love with you both. I love reading your posts...they are so real...but with a bit of humor bumped in for good measure.

Anyway, I think the decision you made was a great one. And you explained it exactly how I explained why we didn't do the tests with our two. After all the effort, all you want is a baby, no matter what happens. I wish you nothing but the best and look forward to watching you go through this awesome journey!!

5:17 PM  
Blogger Jen said...

Yay for freedom! We chose to go with only the 20 week Level 2 ultrasound, primarily because we wanted to rule out major obvious issues before proceeding with a homebirth. Since you're looking at a hospital birth with midwives, you could even skip that one. Hooray, hooray, hooray!

(and are you busy in the next few days? we're in the neighborhood, more or less...)

5:31 PM  
Blogger hd said...

I really admire your decision. I also love the end of the post, the part about letting go as parents. I'm the oldest sister by 12 and 14 years, and I remember even as a teenager how hard it was to watch my little sisters do "risky things" (climb, wrestle, ride the scary upside down rides at the amusement park!)--things that I, of course, had done routinely as a child. This letting go thing will be a challenge for me, no doubt.

11:47 AM  
Blogger Pamplemousse said...

What an info overload! I do not know what I would do but the best decision is the one you guys agree on. Smooches all round!

1:14 PM  
Anonymous Liza said...

Good luck good luck good luck!!!

What an emotional strain and overload. At least you know that the odds of all of these things are low, even with so-called "advanced" maternal age.

3:09 PM  
Blogger fisher queen said...

Good for you for being able to let go. I think this 'advanced maternal age' is mostly a load of BS anyway. At 37, there is a 97.7% chance that the baby will be completely normal. Why this qualifies as high risk is beyond me.

8:01 AM  
Blogger Gandksmom said...

We made the same exact decision as you. We have a healthy 3 year old (even though the triple screen came back indicating downs). Never the mind...we would not have done anything differently!

3:33 PM  
Blogger M. said...

I loved this post too as we're having this discussion right now. I especially loved the focus on the fact that we have to let go as parents and can't tie our kids to a chair in the house because we deem it to be statistically the safest place to "protect" them from life. Life has risk in it and I personally feel that the risks to the baby is much greater when you add all the stress of testing. So, we've decided to do the same....only going to do ultrasounds, no screening and certainly no invasive diagnostics. It feels good that others are doing the same. A recent commenter on our blog about this topic almost made it sound like we were being bad parents for making this choice.

12:00 PM  
Blogger moo said...

I love it that it was a shared decison and that you both are so on board with the other and what is right for all three of you. That is the way it should be. Good luck. I also loved the letting go part. Thanks for sharing with us.

10:32 AM  

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