Friday, September 16, 2011

Prenatal Testing After Down Syndrome

When I was pregnant with Claire we debated on having any prenatal screening.  In our area first trimester screening isn't offered, so the first time any testing was mentioned was the second trimester blood work.  My doctor mentioned that at my next appointment they would take blood.  I informed her that I was undecided if we were going to do the testing.  She said she preferred to have it done because it can give an indication of problems like preeclampsia and IUGR, in addition to screening for Down syndrome.

I went home and we talked about it for the next four weeks.

In the end, I had the blood work done, and it came back with elevated risk (1/80) for Down syndrome.  This test led to extra ultrasounds, NSTs, and eventually prenatally diagnosing Claire's heart defect.

It also led to a stressful and worrisome pregnancy.  My doctor, more so than the high risk doctors, seemed to be looking for problems.  And if you look hard enough, you can likely find something wrong.

For us, there were both good and bad outcomes of the screening.

I am very thankful that Claire's heart defect was diagnosed prenatally.  We were able to change delivery plans, and she was born at a hospital with a NICU.  If she'd been born in our small, rural hospital there is a good chance that she would have been transported to a larger hospital.  And I, recovering from a c-section, would have been left behind.  That would not have been good on this mama's heart.

I am also thankful that the increased risk of Down syndrome (increased to 50/50 chance after her heart defect was diagnosed) gave us a chance to educate ourselves, family and friends.  I wanted the birth of my first child to be a joyful occasion, and it was.  For the most part, we didn't have the uncomfortable silences, the stares.  People, us included, weren't shocked by Down syndrome.  And while I sure there were whispers and comments, we didn't hear them.

My biggest problem with the screening, as I mentioned above, was that my doctor seemed to be looking for problems.  I know she was being cautious for the sake of our baby, but this did not make for a relaxing pregnancy.  We were always having ultrasounds (these I loved!) and tests, and new problems were always cropping up.  I would finally get used to a new "problem", then it was time for another doctor appointment, and some new issue had to be dealt with.  As much as I loved being pregnant, I hated this cloud of doom hanging over us.

So, here we are again, deciding on the second trimester blood work.  And I think I'm even more undecided this time around.

On one hand, we are already classified as high risk.  We will see the same doctors as last time for a detailed level II ultrasound and fetal echo around 20 weeks.

But then again, Claire's heart defect wasn't found until we'd had many ultrasounds, at 29 weeks.

The screening tests aren't always accurate, but even if they are, I don't think I want the "what if" hanging over my head.  I'm not scared of Down syndrome, but Claire has opened my eyes to many other disabilities.  And there are many things I don't think I'm cut out for.  Enter the worry I don't want in my pregnancy.

Hopefully that doesn't sound hypocritical.  I didn't think I was cut out to be a parent of child with Down syndrome either, but we are good.  I know I will be able to take on whatever challenges may come our way, but that doesn't mean I want to worry about that for the next five months.

So, with writing all of this out I am leaning towards no second trimester blood work. My next doctors appointment isn't for ten days though, and I'm sure I will change my mind a hundred times before then.

Because I'm curious, what did you (or would you) do for any subsequent pregnancies?


And just because I hate posting with no pictures, one of Claire before the weather turned COLD.


  1. I turned down the blood work twice and I'm pretty sure if we have a 3rd I'll do the same...however I do wonder what my numbers would have been had I had it done with Sutter. I've always said unless it can give me more than a possibility I wouldn't do it. It's a tough call and like you said between now and then I'm sure you'll change your mind several times. Whatever you decide will be the right decision! ;)

    Claire gets cuter and BIGGER by the day!

  2. Do what you think is best for you! We chose not to have any additional testing performed this time around (our first, and only as of now, has DS and we didn't know until the day he was born) but it was for 2 reasons. 1. It wouldn't change whether we proceeded with the pregnancy and 2. We have a high deductible and have to pay out of pocket for them. They did a very thorough ultrasound and are giving me an additional (at least) towards my due date. It's been going great so far and we just figured we didn't know last time until we were holding our perfect little one and that has worked out just fine. Good luck!

  3. I turned down the blood testing for Carter. I was glad to have Addison diagnosed prenatally, but it was such a horrible pregnancy with EVERYTHING going wrong, that I just wanted one pregnancy that I could just enjoy for the pregnancy's sake instead of being given countless labels (and worries) I said that if something showed up on an ultrasound that looked concerning, I might then consider an amnio (so that I could deliver at the right hospital), but as long as everything looked normal, I was going to just assume the best. I'm really glad I did it this way- but to each their own. If you choose to do it or if you choose to not, you'll know what's best for you and your peace of mind.
    I'm so excited for you!!!

  4. That would be a tough call. I have often wondered if I would have rather known before hand that Russell had Ds so it would have been less of a shock, but then I know if I had known I would have worried myself sick the entire pregnancy...
    I guess there are good points on both sides of the debate.
    The thing is Claire has prepared you for so much already...You know how fiercly you love and adore her...So with your next baby, no matter what may happen, you know you will love him or her the very same. I think you are as prepared as you need to be :)

  5. I totally understand your stress and have thought through the same scenario should I get pregnant again. I understand the desire to enjoy your pregnancy without the constant stressful possibilities being found at every doctor's appointment! It seems like they'd find the serious defects through anatomy ultrasounds regardless. Good luck with your decision and ENJOY your sweet baby #2!

  6. Mark and I decided not to undergo genetic testing after Lucy's birth, and so did not know our likelihood of having another child with Ds. When I became pregnant with Brodie, we were concerned, but not enough to undergo any evasive testing.

    I had the NT test at 12 weeks, a Level II ultrasound at 20 weeks, two fetal echos at 21 weeks and 28 weeks, and a series of biophysical profiles for the last eight weeks of my pregnancy. For me, the MOST important of those screening tools was the fetal echo. We were not overly concerned as to whether Brodie would have Ds, but we wanted sound health analysis so we could plan our delivery options accordingly. Every thing came back negative, or within normal ranges, and so we delivered with our regular OB in the regular OB ward of our local hospital.

    I was very happy with my OB, who took a lot of time explaining all the testing and screening options. I walked in dead set against an amnio. I told him straight out, it didn't matter to me if the baby had Ds. He very calmly validated that, and then said "If the baby had Ds, It might not change whether or not you maintain this pregnancy, but it will change the way I treat it." I respected that, and felt that we communicated very well to come up with a plan where he, as the physician, got the medical information he needed, yet I was also comfortable.

    As an aside, I left the OB I had had Lucy with when I found out I was pregnant with Brodie because that practice wanted to treat it as "all or nothing". Since I didn't want *their* tests, they were willing to end the conversation. I had one appointment with Brodie and then found a new doctor.

  7. I have no idea what I would do. Seriously. I would waiver back and forth. With Ellie, we did not do the blood work. It was not covered by insurance and I didn't want to be worrying if I came up high risk for anything. We did have a ton of ultrasounds which where all "normal". Keep us posted!

  8. this is a HUGE decision!! WOWSA! we choose no prenatal screenings with Maddie...we found out prenatally that she was going to be born with extra through a no bubble ultra sound...and if I had it to do over again...I would not test for anything if I could have another child...I think knowing prenatally ruined the gift of Maddie...I was in depression before she got here...and made assumptions that should have never entered my mind...but you know any decision you make will be right for you and your family...smiles

  9. Do what your heart tells you to do and that amazing mommy instinct.Hasn't let me down yet, says mom of!

    Love to you all an d sending you peace while you decide.

  10. I'm one that needs all the information I can have to alleviate some of the stress. If we were going to have more, I would definitely do the testing. With Kaylen, I felt like knowing for sure let me grieve and prepare during the pregnancy so she could have a joyful delivery - that helped me de-stress some. That's just my personality, though. Blessings on whatever you decide. :)

    Kim and Kaylen C.

  11. I didn't do anything different for my three pregnancies (my child with Ds is in the middle), which did not include any blood work. I have a thorough Level 2 ultrasound at 20 weeks. My child with Ds and my last child both had enlarged kidneys throughout my pregnancy.

  12. With Tily we didn't do any of the testing. We decided that if we ever did have a child with Down Syndrome it didn't matter to us. The thing that caught us off gard were the health concerns. We didn't know until Tily was born that she had and Extra chomosone or a heart defect. WE even had an ultrasound at 32 weeks and they didn't see anothing. I don't think we would do any testing the next time either. We would just try to make sure things were closer looked at health wise. I say this now but sometimes things change when it comes right down to making that decision. You will make the right decision for you and your family.

  13. We had a pre-natal DS diagnosis, based on screening tests (1st and 2nd trimester) because I was 35, followed by amnio. We also had a pre-natal echo that failed to catch her heart defect. We are considering having another child and I definitely plan to have the screening. Knowing her diagnosis at 20 weeks was incredibly difficult at first, and certainly cast a shadow over the pregnancy. But, I cannot imagine how difficult and overwhelming it would have been to find out at birth. I am a planner, so the early knowledge made me feel so empowered. I was able to do all of the research before she was born so afterwards I was just able to enjoy her.

  14. I'm high-risk for miscarriage and unwilling to terminate, so our doctor recommended against screening. It was a tough pregnancy, and I spent six months on bed-rest -- watching boring day-time TV for most of it.

    Then my daughter was born -- and I was spending one hour in three pumping, one hour in three getting the milk into her, and the third frantically trying to learn everything I could about Down syndrome. I bitterly resented those long, boring hours in front of the TV.

    Also, she was born at home, which I probably wouldn't have done if I'd known she had Down syndrome and a heart condition (though everything went fine with her birth).

    When we got pregnant again, we had an amnio. I wanted to know. We looked for a practitioner who had done hundreds and hundreds of them without negative side effects (she'd had one spot of external bleeding, and that was it) -- be aware that the risks with amnio vary dramatically between practitioners.

    The tests were all negative. Our son has a typical collection of chromosomes, and we had a lovely home birth with him (which is not to say easy!). And it was all the easier because I knew exactly what I was dealing with.

  15. I really appreciate this post and all the responses.

    I hope this isn't a tacky use of the comment window, but I'm also a parent of a child with Down syndrome, and I'm in the midst of a research project about prenatal testing, with a particular emphasis on parents of children with Down syndrome. If anybody would like more information, here's a link to my blog with the interview request:

  16. Honestly Melissa, there is no such thing as a worry free pregnancy. And for me, especially after having Lucas, I worried a lot about everything not just Ds. I did the 12 week NT and the triple screen with Malcolm. Did it ease my mind? A little but mostly it was the people around me that eased my mind, letting me know that everything was going to be ok regardless.

  17. Congrats, I must have somehow missed the post announcing your happy for you! We chose to do the testing with our 3rd, not because we would have any decisions to make, but so that we could be prepared because we weren't with Emily. We wanted to have a cardiologist lined up etc... and we were in the throws of treating Emily's leukemia so it seemed like the wise thing to do so that we could be prepared in our situation. I think you should go with your heart!

  18. Congratulations to you on your pg! That's wonderful. You know- I just think it's such a personal choice. You will know what you want to do and your reasons for it- and people will tell your or agree or disagree with whatever you choose. But it's your body, it's your family. For me it's the reasons behind it that need sorting through. And I know alot of disability advocates don't see that having the tests can be done without intent to terminate- but I think they can. When I was pg with both of my girls I had such an emotional response that I did not want testing- under any circumstances. Now it's different. Both of my girls had the same soft markers- that will come up in routine ultrasounds (and I'm not turning down those!) and I'm now 38. One of my girls has ds and one doesn't. So- you could tell me my odds are 1 in 60 and I'll assume I'll be that one. Screenings are not for me. That said- I firmly believe I have to think of the health of my family and plan for what may lay ahead- for me it's not about how peaceful the pg could be- I'm never peaceful in pg. Now we know so much more about disability and children, the blinders are off- we know there are possibilities out there that require more care than what the average person assumes. And I think it's ok to prepare for that. It's responsible. But that's just me. Good luck to you while you decide!

  19. I'm glad I didn't know in advance about Es BUT it would have been nice to know about her CHD. I think it would cause more worry and fear then needed. I'm thankful I found out about Eslea after birth because having her squishy beautiful babiness around made the mourning go by so much quicker. I would think finding out while preganat would be hard because you don't have that baby to hold and know it really is okay. If I was pregnant now, I would have testing done because I would want to know. I'm so okay with having another beautiful designer gene baby that finding out early the second time would be information like...gender or weight. Important but not life altering! :)


Thanks for stopping by! I love to hear what is on your mind.