news item: “Prenatal Testing: It’s Just Information, Not Answers — or a Guarantee”

Prenatal testing. Did you do it?

This week we came across a really interesting article about prenatal testing and the decisions parents make in response to the results they get. It’s written by a woman (Claire McCarthy) who is not only a pediatrician but also a Mom who had a severely disabled child who died at one year of age (they did do genetic testing on him). With that sort of background, I was extremely interested to find out why she chose against doing any genetic testing with her final pregnancy. Click over to her article to read a more thorough explanation of her reasons, but here is the synopsis:

First of all, you can’t test for every single genetic problem…

Second, there are some really wonderful people out there with less-than-perfect genes…

Third — and this is the part that gets left out of the conversation almost entirely — being genetically normal is no guarantee of anything.

She goes on to say:

I don’t mean to sound judgmental of people who choose to end pregnancies when genetic problems are found. These are intensely personal and individual decisions, and decisions that are deeply dependent on circumstances.

When I was pregnant with our first child, we decided against doing any genetic testing, because we were of the mindset that we wouldn’t terminate a pregnancy either way, and with the high rate of false positives, I figured there was no reason to put that chance of extra stress into my life. We plan to do the same (not testing) this time around. However, I have plenty of friends who have chosen the opposite – as the author of this article said, it’s an intensely personal decision.

The focus of Claire’s concern about genetic testing is that she feels not all parents can make calm decisions with clear heads and clear hearts when faced with a potentially devastating diagnosis.

I’d also lived enough of life to understand that control is an illusion. Life, as they say, is what happens while you are busy making plans.

Understanding this, I think, is crucial to being happy parents — and happy people. But I don’t think that most obstetricians are talking about things this way. I don’t think they are putting testing into context for expectant parents, helping them really understand the meaning and limitations of test results.

The pace of genetic research is stunning and exciting. But there is more to life and health than genetics — and when it comes to making decisions about pregnancies, we need to help people understand that.

So what do you think?

*****

Did you choose to do genetic testing while pregnant? Why or why not?

Do you regret your decision?

What do you think of the author’s argument against testing?

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pail_josJosey is a semi-crunchy mom of a toddler who spent her college years studying business and French and traveling whenever possible. She now works at the local medical center and is continually in search of the optimum work/life/party balance as she cruises through her 30s with her family and friends in Colorado. She is more than a little Type-A and researches the hell out of random things that pique her interest. Josey blogs about her family’s travel and outdoor life adventures at My Cheap Version of Therapy.

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Comments

  1. We didn’t do testing other than serial ultrasounds with the first pregnancy – with twins, especially at the time, the accuracy rate of blood tests wasn’t terribly worth it. But when they found something on ultrasound, we sure as hell found out as much information as we could about it so we’d be prepared at birth. Then of course, he wasn’t born with that, but did have other issues and we were at Square One all over again, this time with two newborns and a rush to find answers – at the expense of finding good doctors. The second time we did all the non-invasive testing available and serial ultrasounds all the while knowing it wasn’t a guarantee of finding things ahead of time.

    My feeling on it is though – if it’s knowable, I would rather know it before the baby is born. Even if it’s a possibility rather than a surety, even if I could be working myself up about something that turns out not to be. It’s not about control of the situation, it’s about having a plan in place ahead of time, because immediately post-partum is a hard time to be thinking clearly.

  2. Okay, I admit it was not an option down here to do any sort of testing, so that made the choice very easy for me, but I think it would have been fairly easy either way. Before realizing it wasn’t an option, I had no interest what so ever in testing. I am happy with that decision and I wouldn’t test again with a future pregnancy either. Like you, we would not have terminated the pregnancy either way so why add that extra stress to the situation. Saying that, I completely understand why other parents do choose to get testing and also realize that there is much more pressure to do so in western cultures where the tests are available and even, are the norm. Even without pressure, I can understand how some parents would feel more at ease and less stressed after having tested than if not. I think it depends so much on the person. I was lucky to not have that pressure and not have that extra stress of even needing to make the decision during my pregnancy.

  3. I didn’t test when pregnant with my daughter. I was having that baby and any negative test results wouldn’t have swayed me. I’ll do the same for our next even though I’m now 35 and considered to be at more of a risk for such things.

  4. I did genetic testing with this pregnancy. We would not have terminated even if the results were bad, but I needed to know for my own sanity. Thankfully, everything is good with baby boy. I know it’s not a guarantee of everything but it helps my psychosis a little.

  5. We did not do prenatal testing with either of our children. With the first, I knew about the high rate of false positives and didn’t want to be worried the whole pregnancy. Our son ended up having a horrible genetic disease, but one that would not have been detected by prenatal testing anyway. With our daughter, we chose not to because obviously we were worried about THAT disease, not really any others. We did try to find out if she had it prior to her birth but were unsuccessful (she doesn’t have it). I am however, a huge advocate of newborn screening (and supplemental newborn screens) because they catch a lot of diseases right at the start, even before any symptoms show.

  6. As a NICU nurse who as been in the delivery room when a child is born with obvious anomalies or markers for genetic disorders completely unknown to the family, it’s heart breaking. We as medical staff are trained to remain calm and not “react” when we recognize signs, but the mother’s always know something is wrong. I didn’t want to be that mom. My husband and I chose to do minimal testing with Raegan, strictly for informational purposes only. Just to be prepared so if something was noticed in the delivery room, I wouldn’t be that mom. This time around my OB is insisting on more testing because of my age (even though my embryo was only 35 years old) and my high risk status. So far everything has come back normal, but that doesn’t necessarily mean anything. I have 2-4 level 2 ultrasounds coming up to help see and diagnose any problems. We did not and will not be doing any invasive testing due to my high risk for miscarriage. I admire people who chose to forgo the testing. Here is where knowing too much can be risky. I know too much and all I see is bad stuff so I almost expect bad things to happen.

    • I think you raise a very valid point – and one that many of us don’t think about. Finding out something so tragic in the delivery room, or shortly thereafter, would be awful. It makes me sad that you’ve had to witness it – I can’t imagine LIVING it.

  7. We did prenatal screening for both pregnancies and have no regrets at all. Our doctor never once presented them as TESTS – he presented them as screenings which could lead to tests later if something came back looking fishy. He stated several times that they’re just looking for indicators that could warrant more thorough testing if we so chose to do do. This is where the author lost me right away. Was she referring to just CVS and amnio’s, or was she also referring to first and second trimester screenings? She didn’t specify, which makes the article weak in my opinion – and simply an opinion piece. It also makes the article unnecessarily scary for some readers who do not know the difference between the two types of testing.

    We did the screenings so that we could prepare for what was ahead for us. We would not have used them to terminate, and our own doctor told us he NEVER lets anyone use first and second tri screenings to make those decisions. Screenings only give you the odds – they aren’t tests. I have never once regretted the decision to screen our pregnancies because to me, knowledge is power and helps us prepare. I cannot imagine finding out something devastating after birthing a child. Sure, there are things you can find out after the fact, but the big ones (Tri 18, 21, etc) – I wouldn’t want to find that out after delivery.

    I think the author’s argument against “Testing” (again, is she also talking about screening?) is weak, at best. We all know that some things aren’t included in testing and screening – our doctors tell us that. Her other two reasons are simply antidotal in my opinion. Of course many people with “less-than-perfect genes” are wonderful – and I’m sure we all know a few people like this. Or course illnesses (like cancer) or tragic accidents can plague genetically perfect people. Those two points are moot, in my opinion, leaving us just with her one point – that you can’t test for every genetic issue. If you have a decent doctor who explains things well, you go into it knowing that. She talks about helping people understand the limitations of prenatal testing, and from my own experiences and those of my friends – doctors and midwives are doing a great job of that.

    I don’t think prenatal testing and screening is for everyone, obviously, but it was for us and I am so glad we did it!

  8. Other than the NT scan and the two IPS blood test, we didn’t do any other genetic-testing during my first pregnancy or with this one.
    You can check out my full comment on my blog:
    http://artistmouse.wordpress.com/2013/06/12/prenatal-testing-yes-or-no/

  9. We didn’t do genetic testing, nor did we have an NT scan, since the result would’t have had any consequences. I wouldn’t have terminated my pregnancy and definitly did not want to risk causing a miscarriage by doing the amniocentesis necessary for genetic testing.
    We did, however, do the detailed organ US around week 22, just so we’d be able to prepare if anything was wrong (and it was good that we did because the doppler done then showed notching in my uterine arteries, which caused me to be treated like a high-risk pregnancy, which in turn caused my pre-eclampsiamto be caught in time).
    Should I be lucky enough to get pregnant again, I would do an NT scan and one of those newfangled blood tests for Down’s. Not because I would then terminated that pregnancy but because I would want to be able to prepare. I think I would owe this to my little boy, hubby, myself, and the new baby. Not that there’s a chance I would ever get pregant on my own…

  10. We did testing, specifically the NT scan and a later anatomy scan, but honestly, it was more because we wanted additional opportunities to see our babies on ultrasound. Having used eggs from a 27-year-old screened-and-approved donor to conceive, we felt that the likelihood of genetic abnormalities was probably fairly low. . . and in any event, we were in agreement that we would not terminate the pregnancy for that reason. . . particularly when doing so could put the other, healthy/normal twin at risk.

    BTW, it’s accurate that these tests do not pick up every abnormality, and some people still find out about congenital problems after birth. But I think Sarah’s point about knowing about these things ahead of time, even if you would do nothing about them but simply *know* before delivering, is an excellent one. Most of us would need time to adjust to the notion of having a child with challenges, and wouldn’t it be easier to adjust while still pregnant vs. in the delivery room and thereafter?

  11. We did not choose to do genetic testing as the same reason as you. I was fortunate to have an ob that did discuss the tests and false positive statistics. I didn’t want to add more stress to an already stressful pregnancy. I don’t regret not getting it done.

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