Monday, 19 January 2009

Confused

We had a fabulous 12 week scan today, but a very confusing high risk for Downs Syndrome result.

Bub looked great and was dancing around, showing us he'r high kicks and juggling skills. Brain and heart development looked great; measuring on target for dates; hands and fingers, feet and toes in all the right places. We were told the nuchal fold measurement was within the normal range. Everything looked great!

The Doctor came in and we discussed our PGD results. She said she wasn't sure how that would effect the Downs risk result as the statistical approach doesn't allow for that to be taken into consideration. When she finally got back to me in the afternoon, I think she was as surprised as I was with the combined results of 1 in 38 chance of Downs.

Due to the combined risk of my age and IVF, my baseline risk was 1:70. Apparently the nuchal fold measurement was actually on the higher side of normal and the maternal serum blood test showed my hCG again normal but on the high side of the range, while the pregnancy protein marker (PAPP-A?) was on the lower side of normal. All these together doubled the risk.

My confusion comes from this: how can these figures be accurate if they do not take into account the following VITAL information?
1.) This embryo has already been tested for Downs (and several other chromosomal abnormalities) and was given a tick of approval considered to be >90% accurate
2.) The baby's nasal bone could be clearly seen on ultrasound (this is often absent in Downs babies)
3.) The long bones appeared normal on ultrasound (Downs babies often present with shortened femur and humerus bones)

We now have to decide whether or not to do a CVS or amnio. We are somewhat stuck on the point that we believe we have already tested the chromosomal makeup of this baby. We've taken so long to get to this point - why should we risk miscarriage to re-test something we have already tested? Are the tests in fact the same, or am I wrong? If we do opt for further testing should we go CVS and find out now, or wait another 3-4 weeks for an amnio?

I feel I'm in deep water here. Any advice and/or sharing of experiences would be greatly appreciated.

16 comments:

Joonie said...

I don't really have any advice to offer per se. I can tell you about my own experience. We opted to have a CVS done, because we had to know and waiting until the second trimester and the amnio seemed too much to bear. Now, as the chance of miscarriage with CVS (or amnio for that matter) goes, it is very much related to the skill of the doctor performing the procedure. So if you do decide to go that route, shop around and find a clinic with the lowest rate of miscarriage.

I'm so sorry you have to make this difficult decision.

Rachel Inbar said...

I remember Watson (http://www.mydearwatson.typepad.com/) having the same thing - after PGD being told that one of her twins was high risk for Downs. To the best of my recollection, she opted not to do anything since PGD should be just as good an indication as would amnio or CVS.

Most doctors don't understand statistics very well (studies have shown this, I'm not just saying it) and so by throwing in the PGD, you're just confusing her with facts she doesn't know what to do with.

I'd try to talk to the person who did the PGD and see what they think.

Good luck!

Anonymous said...

The guesstimated risk is still very, very low . . . 1/38 = a 0.026% chance for DS. It's really a good result, I think, especially with all the other info you know (PGD, healthy pregnancy, normal growth and attributes for the bub). I don't know the specifics, but my OB told me (and I've read of others' experiences with it) that IVF can skew some of the blood-screening results so that risks seem higher. I don't know how or have a source to point you to, though. I just know I've heard it several times!

I can't credibly tell you what I'd end up doing since I haven't been there, but I do think I'd be leaning toward skipping further testing unless the OB or your RE think you need it. What is your OB's recommendation? What outcomes has she seen with similar results?

Everyone is different. If you will drive yourself crazy with worry, then the peace of mind from additional testing is the way to go.

I know, no real help! :)

Lisa said...

That Anonymous comment above was from me. Must have clicked through too quickly. :)

Mrs M@sk said...

How silly making a calculation that can't take into account all of those positive factors. I'm sorry you are in this postion.

Wordgirl said...

Oh I wish I had anything useful at all here -- but I am thinking of you Louise.

I imagine how I would feel in your position -- I thought Lisa's comment was reassuring -- as was the advice to seek out the person who did the PGD.

Thinking of you,

Pam

Jeanette said...

I am the mother of a child with Down Syndrome. My daughter is 18 months old and truly a blessing. I was in a very similar situation as you when I was pregnant. We did not do IVF, however I was 35, the ultrasound showed a "normal" nuchal fold, the bones were "normal" size and the only indicator of DS was my blood work. I did opt for an amnio and it went smoothly (not a fun experience, but it was safely done). As you know the results were that Sydney had Down Syndrome. We cried for a few days then resigned to learn all that we could about DS. It all worked out just fine.

Basically, what I wanted to say was that I KNOW where how scared and worried you are right now. I have been in your shoes. All of the what-ifs are probably cramming your brain ever second of the day. "IF" your child doesn't have DS, then your life will go one just like you planned. But, "IF" your child does indeed has DS, then your life will go down a slightly different path, but it will be okay. I work with new parents with children with DS and would be glad to chat more with you if you are interested. You can also stop by our website and see our story and others in my blogroll. Check out "A Mother's Perspective" on the right side of the blog for our prenatal story.

Good luck to you and know that whatever the results of the tests, whether or not that you opt to take them, that your baby will have a wonderful life... and so will you. Blessings to you and your family.

Anonymous said...

Aw ES - This kind of thing just sucks, doesn't it? I mean, we do all these stressful freaking tests to give us some semblance of peace, and half the time they just make it worse. Bleah.

I think Rachel Inbar's suggestion of calling the folks that did the PGD is really excellent. What I've learned through all this is that sometimes these folks seem to have a pretty narrow range of focus when it comes to ART, testing, and pregnancy in general. I've found that my RE is fabulous for ART, but not the most fabulous in giving OB/GYN advice ("sure - eat LOTS of peanuts....."). The testing folks really knew their stuff, but ART was pretty much voodoo to them. And... well, you get it. So, I've had to take the reigns on a lot of this myself at these early stages.

There is no absolute answer here, but the right answer will be the one you choose. And, like Lisa said, no matter what - those odds are still pretty darned low.

We did CVS, which wasn't bad - it was quick. Joonie is right on that - if you do it, get someone who is very experienced, then the rate of m/c is almost the same as amnio, which is very low.

Good luck and I hope whatever you choose to do brings you some comfort.

-J

Geohde said...

That's a tough situation, you have my sympathies.

Unfortunately PGD isn't an absolute accurate test as you point out.

It's a sample of a cell at a very stage when an embryo doesn't have many cells, but not nessecarily ALL of the cells in an embryo have exactly the same karyotype for complex reasons.

So I guess the PGD result is good, but not an absolute guarantee.

The absence of soft markers (missing nasal bone, heart defects, GI tract malformations and short long bones) is a good sign, but these things are not very predictive.

The absence of a grossly abnormal NT is better, but again...on it's own....

I think it depends how sure you need to be. You are right that your age gives you a high baseline risk even in the absence of other information, and it would have taken sensational NT and blood results to get you below the usual threshold for offering an amnio.

Good luck. (here via L+F)

J

sara said...

I don't have any great advice other than I'm keeping my fingers crossed for some great results for you and smooth sailing ahead!

Vee said...

Sorry you have to deal with this confusion. I don't have any advise either but hoping all is ok.

eden said...

Sweetheart!!! I came back high risk for DS also, not sure if you remember. It's all in the Topcat blog.

There are just too many darn tests these days, I swear. I'm so very sorry it's confusing .... I hope you're ok, I totally shat myself at the thought of the possibilities. I think I had 1:76 chance of something "wrong".

I knew there was nothing wrong, but did the amnio anyway. Which was so bloody scary. I needed to know, and knew I couldn't go through the whole pregnancy not knowing.

I know a woman who had a 50:50 chance of DS - she refused amnio or CVS, and her baby was fine.

Many, many hugs to you. XOXOXOXOX

Stacie said...

This is a really tough place to be. I was the opposite of you. I had great bloodwork but two soft markers (potential clubbed foot which really wasn't and cysts on the boys' brains). Did the amnio, but wish I didn't as I really believe that the amnios were the start of everything for me.

I am sending you hugs. So sorry that this is even something you are dealing with...if only things could be easy, right? :-)

Aurelia said...

Well, first I will say email me, or take a look at my blog, and you will see some more info.

Basically, the nuchal fold measures and the papp-a and hcg, do not just measure the risk for downs, they measure the risk for all birth defects, even those that are not chromosomal.

You see Down's is a chromosomal defect, Trisomy 21, literally, three copies of chromosome 21, not just the normal two. Chromosomal defects, like tri 21, tri 18, and tri 13, are the ones they find on amnio and CVS definitively, but the screening can find others.

A baby with a chromosomal issue will also have a chromosomally damaged placenta. Which is why they use hcg and papp-A for screening.

That is because your placenta makes hcg and papp-A and proper levels of those two, plus a check of the blood pressure in the uterine and placental arteries, means that your placenta is functioning normally, and abnormal levels means that it has a problem, but not necessarily that the baby does.

The nuchal fold is the same thing. A baby with many different birth defects will have a larger measurement than normal, and some are chromosomal, and some defects are not.

The nasal bone for instance is only a Down's issue, but there are a lot of other things where the baby has that bone, but has other problems.

What I'm trying to say is that some fetal/pregnancy issues are not chromosomal, so you need to ask for more information and a referral to a placental specialist.

Like if the baby showed vigorous movement, that is a great sign. If your placenta and uterine arteries have a nice low pulsatility index, then that is a great sign.

If your placenta has damage, you are early enough that you could repair it, by talking baby aspirin, heparin injections and vaginal progesterone to lower inflammation. This in turn lowers the chance of miscarriage, IUGR and stillbirth. (Sorry to use those words, but I'd rather give you the info and help, than say nothing and have something bad happen later.)

You also can ask them for a further anatomy scan at 15 weeks and see if the baby has any defects visible then. Larger nuchals, like 7 mm + can be a sign of genetic disorders, mild or serious, or non-genetic defects like spina bifida and cleft lip/palate. PGD would not catch these, ever.

Some are repairable, some are not, but even if the amnio or CVS come back perfect, you need a high risk maternal-fetal specialist or a placental specialist to check out why these numbers are out of normal range.

Take care, and feel free to email me anytime.

AussieJenn said...

Been in the same position as you. Opted for a CVS. Found the test EXTREMELY painful and taumatic (although never heard anybody else have this happen). I would never have the test again. Our biggest fear was losing the baby by having this procedure done, specially after fighting so hard to get pregnant (IVF). Paid the extra money to get quick results and there was no chromosomal defect. Pg held. Healthy baby boy born 29 weeks later - we got our happy ending. I now look back and wonder why I had the test, when our biggest fear had been about losing, not about possible "defects". Really not sure if finding anything would have changed how we proceeded KWIM? Couldn't bear to lose our miracle baby by accident or by choice. Weigh-up your fears and think carefully about your choices - what it would mean if you had confirmation either way. I'm thinking of you and so sorry you are having to deal with this stress at a time that should be joyful.

Tamra said...

DON'T DO ANY TEST THAT MIGHT CAUSE YOU TO LOSE YOUR BABY!
A friend had several markers on one of her twins. She cried and cried. They opted to not test because they didn't want to risk losing the pregnancy. Both babies were fine!

The real question is why do you want an answer. Is it because you will terminate if it's positive? Is it so you can be more prepared to love your baby?

My hunch is that your baby will be nothing less that beautiful and perfect as they are.