Wednesday, July 28, 2010

Genetic Testing?

[Editor's Note: Today's post and tomorrow's will be about pregnancy. Then we'll get back to our regular melange of topics (which will be a well-rounded mix of stuff, including pregnancy). And, by the way, there are only four more days to register for Purposeful Conception, my online course about preparing your mind, body, and life for pregnancy!]

A friend of mine is several weeks ahead of me in her pregnancy, and she's going the ob/gyn route in a hospital. It's interesting to compare our experiences (since I'm going the homebirth route with a midwife).

For example, genetic testing is a routine part of my friend's care, while it's something I have to seek outside of my midwife's care, if I want it. My midwife argues that Matt and I should first decide what we would do with the results. If we would have an abortion if our child were diagnosed with a chromosomal difference, then she recommends that we get the nuchal translucency screening. If we would keep the baby, she argues that we should not do the testing. She contends that it's better to spend all of pregnancy bonding with the baby instead of feeling like the baby is defective.

I'm so torn about all of it.

In fact, I keep staring at the screen, not knowing how to articulate all the thoughts that are swirling around in my head.

Here's my meager attempt:
  • Chromosomal abnormality is rare. The statistics are in my favor.
  • I am a planner. I think I would be better prepared to cope with a child with special needs if I knew about it in advance and had time to prepare.
  • Parenthood is about the art of dealing with things as they happen. So is life, for that matter.
  • I hate that much of the modern birthing industry is predicated on fear and anxiety. This process is stressing me out. The screening has an accuracy rate of somewhere in the 80th percent. It's a very non-invasive screening, but if the results indicate anything, I will be pushed to undergo much more invasive diagnostic testing (like an amniocentesis, which causes a miscarriage rate of 1 out of 200). If the screening shows something, I will likely undergo anxiety as I wait the requisite amount of time before the next test. If I get that next test, then I'll undergo anxiety as I wait for those results to come back (unless I pay more for the preliminary results).
  • If the screening comes back fine, I won't have to worry for the rest of my pregnancy.
  • My midwife argues that there will always be something to worry about when it comes to the health and well-being of my child.
  • I have to decide pretty much now because the screening is only accurate within a very small range, and I'll be out of town next week.
  • I am already scared about how difficult it will be to raise a child. I am infinitely more scared about how hard it would be to raise a child with special needs.
  • I feel guilty for saying that, but it's true.
  • I absolutely support a woman's right to choose. However, choosing abortion for myself feels very, very different.
  • Part of me wants to put all of this behind me and to just hope for the best. Part of me wants to trust that we can handle whatever comes our way. Part of me feels like not getting the screening would be akin to burying my head in the sand. Part of me feels like the baby is fine, so I should get the test and stop worrying about it. Part of me wishes I could just stop worrying about it without the test.
I would very much appreciate your perspectives on this...

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Justine said...

As a NICU nurse, I would recommend it because like you said, you'll have anxiety about the pregnancy about your son or daughter if you don't do it and may spend too much time focusing on that rather than the experience of birth, meeting your child, and becoming a mother.

You are a self-admitted planning type of person. If your child did have downs syndrome, for example, you could prepare yourself mentally for that and start looking into different books and research online on how to best foster the child's development. Can you imagine how you might feel if you had no idea about something abnormal in your child and having to deal with the reality all at once, no time to really ponder and consider since your child will be physical and RIGHT THERE needing attention now, 24/7?

To be realistic, your midwife is correct that there will always be something to worry about regarding your child. Your baby could be perfectly fine genetically and something could go horribly wrong with the delivery or you might not even know something is wrong (once took care of a baby that had a stroke in utero, essentially died, and mom noticed it not moving after awhile, but there was nothing she could have done). I see it at my workplace everyday in a multitude of scenarios.

The difference, however, is that you can't plan for those kinds of events. You have to go with the flow--you have no choice. This: you do have a choice.

If you do have a baby with some genetic abnormalities, don't you think that you and Matt will better serve your baby by being prepared for the challenges that may come with their handicaps? One could argue that you're better serving your baby by making his or her life easier when mom and dad know how to take better care of him or her.

It might also facilitate bonding more quickly if you knew any potential diagnoses earlier, since it wouldn't be a huge shock with human disappointment.

Best of luck whatever you decide!

LauraC said...

We opted to not do the genetic testing, opting for the quad blood screen instead of the nuchal fold testing. In our case, it was a mistake.

Instead of finding out we were having twins at 12 weeks, we found out at 18 weeks. Since our quad screen numbers came back normal for ONE baby, we then had a harrowing week waiting for the recalculations at 18 weeks. And instead of spending those 6 weeks focusing on good nutrition for twins and doing research, I was eating for one baby. The most successful indicator of a full term pregnancy for twins is gaining 20 lbs by 20 weeks (due to increased protein intake) and I wasn't even close.

Obviously hindsight is 20/20 but I wish I had known at 12 weeks we were having twins. We were in a state of shock for weeks and then I was suddenly on bed rest. It was not what I had envisioned and I wish I had had better time to prepare.

And I agree with Justine, as a planner, I would think you would want more information earlier.

Also I'm not sure I agree with your midwife. Why spend time contemplating possibilities that may never happen? Get the test and then decide.

Carrie said...

I was going to try to articulate my thoughts, but Justine really nailed it on the head. I'd recommend getting the test. It does produce some anxiety waiting for the results, but if you're already thinking this hard about it and possibly becoming anxious, do you think those feelings will actually go away after you make the definitive decision NOT to get the test? Like you said, you'll miss the window, so if you'll spend the rest of your pregnancy worrying about it, my vote is go for the test (just like I voted to go for the pregnancy test before day 46, which ended up being a good choice--saved you a week of "wondering" :) ).

Liz N. said...

I am currently 20 weeks pregnant and am going the hospital route with my first pregnancy for a variety of reasons. Because of this I have had three different "routine" genetic tests up to this point in our pregnancy.

My husband and I opted to have the nuchal translucency screening because, as silly as this may sound, we wanted to see our baby. Due to a tilted uterus my doctor had a difficult time finding the heartbeat of our little one around 11 weeks and the next time we'd hear from him/her would be at 15 weeks. For peace of mind we decided that we have the nuchal translucency screening just to see the baby and know that he or she was okay. It was incredibly reassuring and totally awesome to see our little one kicking around during the ultrasound part of the screening. Definitely worth it if you ask me!

We, my husband and I, are also planners. We knew that there was a small chance that there would be something chromosomally abnormal with our baby (thankfully there was not) but we wanted to be able to plan and be prepared. We're both scientifically minded and we felt that knowing would be better than not knowing.

Around 18 weeks I had blood test, which the name is escaping me. I'm sure we could have turned it down, but we did not. At the 20 week anatomy scan of our baby, the ultrasound technician also confirmed the findings of the nuchal translucency screening.

I've been comfortable with the amount of screening/not screening that we have had done because it has all be non-invasive. Really? Statistically we are probably being over cautious and the tests are not necessary since we are both young (late 20s) and have no medical history of any of things in our families. If I had to do it over again would I? Yes.

That being said, I applaud people who make decisions based on what is right for them and their families. There is no one right answer. As I prepare to welcome our first child into our home, I'm excited and terrified that the decisions are all up to my husband and I...there is no one right answer, just the answer that is right for each individual person and family situation.

Best of luck to you with your decision! :)

Rosalie said...

I just discovered your personal blog, used to follow 2000 dollar but after getting married and having my 5 month old daughter I've got so behind with blogs but Congratulations! And glad to find you again. In the UK you are offered the choice. I took it purely for one of your reasons you put, I'm a planning person (although having a baby most certainly tests that!) and wanted to prepare even though like you we wouldn't have aborted. Good luck with your decisions you have right reasons both ways!

Michele said...

This is such a tough choice Sara. We did the quad screen with both girls (and we went the midwife/hospital route) . I knew that I would want time to prepare and learn as much as I could before the birth if either girls had special needs. Of course, both girls were fine and it was a huge sense of calm in both pregnancies to know that there was one less thing we needed to be concerned about.

Kelsey said...

Based on the list of thoughts occupying your mind right now it does seem to me that getting the test will relieve some of that. I say go for it. You seem to be the kind of person that likes to have as much information as possible.

Sharpiegirl said...

Test. Then you will know what you are going to be dealing with before you have the baby and are dealing with a screaming newborn, sleep deprivation and raging post baby hormonal swings.
You are a teacher. If you have a student that is going to be in your class next year that is special needs wouldn't you want some advanced notice so you could help that child be all it can be right from the beginning? I think the test would give you that same heads up so you can plan and prepare if you choose to continue the pregnancy.

sk said...

Such a hard/complicated decision! I really feel for you, and am kind of dreading the point when it will be my turn to make these kinds of decisions... I feel that I am anti-testing of all kinds for young, healhty people, but I haven't exactly done research to support that (yet). My homebirth friends with happy, healthy babies didn't test, so that's why I'm probably leaning in that direction.

I just signed up for your class! Totally spur-of-the-moment, and it's not really in the budget, but I just decided to go for it. I love making lists, too, and I have had "read pre-conception books" on my to-do list for a long time. Time to get moving!

katy said...

I had the same feelings as you - debating whether or not to test. I concluded it wouldn't hurt to do the non-invasive testing my health insurance covered, but regretted my decision immediately after the test! I felt extremely guilty for putting myself in a position where I could make a decision on ending my child's life. I didn't even want to find out the results! I found myself asking "why did I want to stress myself out waiting for results when I should be focusing on a healthy pregnancy?" Everything your midwife said is right. Don't do it! BTW - I went the hospital route and lucky I did - we found out my daughter was breech when I went in to deliver and had a very successful c-section. Attempting to deliver her naturally could have endangered both of our lives! I WAS a planner but never read a word on c-sections because I didn't plan to have one. Becoming a mother has taught me to throw planning out the window - you can't control everything.

chelle said...

We are also planning for a homebirth with a midwife. However, it appears things are a little different in Canada as the IPS testing is available through our midwife and is something we talked about in a very neutral way.

We chose not to do the IPS testing as we would not have aborted regardless of the results. I also would not have consented to having amnio to confirm results. My best friend is a genetic counselor (who is also pregnant and opted for the IPS) confirmed that there is a high rate of false positives with the nuchal screen - ultrasounds are just very difficult to read. The likelihood of having Trisomy 18 or Cerebral Palsy are much smaller than the likelihood of having Downs, so while you're tested for all 3 Downs is the most likely (false) or not positive.

If you are still feeling a little uneasy, insist that your first (and hopefully only!) ultrasound be no later than 20 weeks - my GC friend says if something were to show up on the anatomy/gender ultrasound it can be beneficial to know 2-4 weeks earlier. Of course she told me this after mine was scheduled for 22 weeks :)

While I do have strong planning needs, my desire to enjoy pregnancy without being extremely stressed out was more important. Should we have a special needs child, I am confident that I will have enough support in my life to catch up very quickly on what I would have spent 8 months worrying about. Not to mention, the IPS testing really only tests for 3 of the possible dozens and dozens of genetic conditions that are possible.

V. Wetlaufer said...

Personally, I would never have the testing.

My aunt had it and it came back positive for something (can't remember what now), and they were seriously considering aborting, but didn't. The baby was born perfectly healthy and is a fantastic child.

I know I don't want to start judging my child before it's even born.

Anonymous said...

Like so many parenting decisions to come... this is so tough! I just encourage you to add to your reflections two thoughts -

1) that the results of these and all tests can be inaccurate at times. I speak as one who received inaccurate results during pregnancy -- everything turned out fine, but I spent needless weeks on bed-rest and needless time fretting and planning for difficulties that never actually existed. To think about: how frustrated/not-frustrated will you feel if your planning ends up being needless?

2) If you do opt for the testing, I encourage you to plan ahead how you will deal with the well-meaning comments of family and friends who are not so attached to your precious baby as you already are. When handicaps are discovered before birth, even those closest to us can suggest things that will rip up your heart. A dear friend of mine discovered her daughter's handicap before birth... and while it *did* help her plan for the future (the child is severely handicapped), she spent the rest of her pregnancy fighting back the tears as well meaning family and friends told her their opinion about what was "best" for her child. She found that people will say things about your baby before birth that they would never dream of saying once they've seen that smiling little face.

So, a few things to reflect on...

~ J

Anonymous said...

I'm 15 weeks and we're doing the quadruple marker screening (2 blood tests and a NT scan).

I recommend it. We had a great experience (everything has turned out fine so far), the u/s is AMAZING, and we wanted an emotional heads up either way. If you do have to have f/u testing: 1)remember that these are screening tests, so they are statistically set to have more false positives than false negatives - all screening tests work that way, So chances are everything is fine.
2) CVS and Amnio are both very safe. Don't let the 1:200 stat scare you. Our doc quoted 1:350/400, but even 1:200 is still 99.5% safe!

As long as it would survive the pregnancy, we were committed to keeping our child, but I do think it's important to know what to expect. Pregnancy and birthing are hard enough. You wouldn't want a surprise like that to taint the experience. Good luck!

Katie said...

As I've not yet been in this situation, I'm not sure if I can offer much insight, but looking forward I know this: My fiance and I have semi-genetically linked disorders that don't really show up on routine testing (or any testing, as far as I know). With that in mind, I approach the idea of genetic testing knowing that it won't catch everything, but it can rule out some other major concerns. Also, knowing that I probably will pass a lifelong condition onto my children helps me realize that the results of genetic testing do not consign them to a less than full life.

As you're a planner, I'd suggest getting the test. If you know in advance that your baby has a special need, you can be more prepared to welcome both your baby and his or her accommodations into your life.

Annalisa said...

There was a recent interview done by Terry Gross (Fresh Air/NPR) with Ayelet Waldman (spelling?). She had genetic testing done with her 3rd child and found it do have an abnormality. She was very candid in the interview and chose to have an abortion. I found it very touching and human. It might be worth a listen (free on itunes) to gain perspective.

Jennie said...

I think you will be far more stressed out if you don't do the test. Like you said, the chances are on your side that it will be fine. If it's not, then you can be yourself and educate and plan for your future with your child.

I think it's probably overwhelming to think about raising a special needs child right now simply because you haven't done your usual stint of reading about it and preparing yourself. Once you do that (and wouldn't it be better to do before the baby comes?) then you'll feel much better! (If you even need to do that kind of preparation!)

Marina said...

Personally, I wouldn't do testing unless there were other indicators or risk factors. I want to spend my time being pregnant practicing not having preconceptions for who my child will be. I don't want to be thinking "the baby has Downs" or "the baby doesn't have Downs" or "it's a girl" any more than I want to be thinking "he'll be a football star" or "I can't wait to walk her down the aisle at her Jewish wedding". The baby will be what the baby will be.

That said, I'm also kind of trying to prep myself for ANYTHING. I'm reading up on the million and one things that will probably never affect my future children, including the things I could test for (like Downs) and the things I couldn't (raising transgender children). I'm trying to accept that I will never be prepared for everything, so mostly I'm trying to increase my flexibility. And research skills. ;)

This is all me, though, not you. You sound like you have a lot of anxiety about this, and probably would be less anxious if you just do the test and get it over with. Your midwife is probably right that it's better to spend the pregnancy bonding with the baby, but if you don't do the test and spend the whole pregnancy worrying that there's something you don't know about, that still won't happen! Better to spend a couple weeks of anxiety waiting for the test results than 9 months of anxiety waiting for the birth.

Kerstin said...

Sara, I read your post today and it moved me to comment. Your honesty (in both this blog and 2000 Dollar Wedding) is so refreshing. The strength you show in choosing your post topics is inspiring. While I am neither pregnant nor married, I am constantly being prompted by you to explore my own thoughts and life views as I read about yours. Thank you for that.

Your list of fears about pregnancy were so poignant and to the point, and really helped my own thoughts and fears about pregnancy (and abortion) come into focus. While I can't speak to your particular situation, whenever I am making really hard decisions I try to remind myself that whatever the choices I make I am making with the best of intentions and all the knowledge I have at my disposal. One of the graceful dances in life is not to let myself question my decisions in hindsight.

amber said...

i think we are all given instincts for what is best for our lives and situations. and because of that, i think that every person has to just follow their instincts for the decisions that have to be made during life and ESPECIALLY pregnancy. the time of the million decisions!

we are 12 weeks and not doing the testing. i have so many worries i am already trying to let go of, i dont think i could handle another!! but, i am a scarlet o'hara. I like to worry about things tomorrow!

bex11 said...

While I think that there are good rational reasons to test, and that it would probably resolve some of your anxiety, I'd like to be a bit of a Devil's Advocate for a sec.
While I am not pregnant nor do I plan to be for several years, I see similarities between the WIC ( I read 2000 dollar wedding) and the MIC (my new term - medical industrial complex). Yes, many of the tests available are useful & serve a purpose, however, if you would keep your baby regardless of the test outcome, I'd encourage you to forgo the test. You seem completely capable of adjusting to a special needs child if that is the outcome of your pregnancy. I say bond with your baby as your midwife suggested & adjust after the birth if needed.
But remember, regardless of your decision, you'll be a fantastic mother! :)

WilderMiss said...

I don't see any downside to getting the initial test done and I disgree with your midwife that you have to decide what you'd do with the results before you get the test done.

Do the test (as you said it's non invasive and low risk) then when you get the results proceed from there. If everything is healthy, problme solved. If something is wrong then it's time for these types of questions. Right now you are worrying about too many different things. One step at a time.

That's just my 2 cents though! Do what feels right to you and I'm sure you'll do the right thing.

Anonymous said...

I would say don't have the test... but then I have to put my cards on the table and say I think life begins at conception.

I have three healthy offspring, now 23, 19 and 17.... but through each pregnancy had the uncertainty of whether they would be born with any abnormalities. My take on it was that once conceived they were a reality which I had to take responsibility for. I don't believe a person's worth depends on how "normal" they are or even how much they are wanted by someone else.

I have several close friends who have children with downs, autism, cystic fibrosis or other conditions. These were totally devastating to the family initially... but those children are much loved and have been an immense blessing to their families. I have another close friend whose completely healthy 25 year old son was drowned in a swimming accident this year while on holiday. We don't know what life is going to bring us and raising any child has the potential for immense pain.... as well as great joy.

Thanks for your 2000 dollar wedding site. It's an inspiration!


Roxanne said...

Wow, it looks like you have a lot of feedback already!
I just wanted to give my opinion (even though you don't really need it), even though I'm not a mother or pregnant. I've thought about this situation before. I think I would do the test. Sure it's a lot to take in if there may be something wrong with the baby, but if you don't know before hand it could really take you by suprise. And then you would have the opportunity to gain knowledge on what would be best for your child.

Ceka said...

I just wanted to add that knowing that your child will have special needs won't stop you from bonding with the baby during the pregnancy. You don't have to chose between "bonding with the baby during the pregnancy" and "thinking the baby is defective during the pregnancy." I think you will find a way to bond regardless of the outcome of the test.

eliza said...

I actually disagree with the idea that finding out will, in and of itself. I know that I would be more anxious going through tests and knowing vs. not knowing and taking a risk. Parenting a special needs child is going to be hard and difficult (and also uniquely amazing!) no matter what...and I'm not sure how much more prepared you would be by reading about it in advance. I agree with your midwife that you should be tested if you think you might abort given the results.

eliza said...

p.s. have you read this?: Such a touching story! They did not know that their child would be born with Down's.

Annie said...

I was diagnosed with Down's in utero and my Mom refused to have the invasive amnio test. Turns out I was perfectly fine. I don't want to generalize my story but she would have saved much anguish and criticism from friends and family pushing her to abort if she hadn't tested at all.

barb said...

You are your child's mother now and you will be forever, whether your child is perfectly healthy, is afflicted with a disease, or has complications at birth, or if you choose to abort. A mother can only love and protect her child to the best of her ability and trust that the life she herself has been charged with safekeeping is ultimately and truly in God/The Universe/Love's hands. Sacrificing your "planning self" now and practicing being in each moment of pregnancy can only help to prepare you for the life and breath of your child for however long you get to know them. Just love him/her and find your joy!

Therese T. said...

As you know, I do not have any kids of my own, but my husband and I would like to try to have a few in the future. For myself, I would like to know (ie genetic testing) If, God forbid, there are abnormalities, there is the pro-choice aspect, or even not to do that but to prepare yourself mentally and emotionally for it rather than have a bad surprise later. Just my thoughts. I always like to know, good or bad, if that makes sense. The I can choose to deal with it. Bottomline for me is the knowledge is there.

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