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  1. #1
    WorriedSick
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    1 in 128 chances for a DS baby

    I am trying so hard not to cry or lose my head.

    I am 35 and 13 weeks pregnant. I had the NT scan at 11 weeks, 4 days. Baby measured at 12 weeks, 1 day and nuchal fold was 1mm along. Blood test results came back as follows:

    PAPP-A: 0.43
    Free Beta HCG: 1.9

    Combined risk: 1 in 128.

    I am also already on insulin for diabetes.

    I am so depressed. I have had three previous miscarriages and a 3-yr-old who was conceived after a lot of prayers and IVF. This pregnancy is an IUI.

    The genetics counselor was really mean and kept combating all of my attempts to grasp at straws with negativity that bordered on cruelty. I just hate her now.

    I am terrified of doing the amnio because of my history of miscarriages. The "counselor" kept on pushing the amnio and pissed me off. What should I do? Did anyone else have a similar result and end up having a fine baby?

    Thanks.


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  3. #2
    Blondie8
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    ~~~~~Previous Losses Mentioned~~~~~~~~

    Yep, DS 1 and DS 2 were pregnancies 7 and 8, prior to that we had 5 losses btwn 10-12 weeks and one at 20. With both DS 1 and 2's pregnancies, my Papp-A was low(not terribly indicative of anything, it's highly debatable if Papp is a good predictive test.) Besides recurrent loss, other risk factors included AMA, previous IC so a cerclage, Insulin for GD starting at week 20 for DS 1 and week 12 for DS 2 and Heparin for ACA's and antiphospholipid. Both kiddos are perfectly fine and healthy.

    Like you, the nuchal fold tests were normal, triple screen was normal for age (age 38 then 40), in both pregnancies choroid plexus cysts were seen on USS which also effected my overall risk factors down to around 1:70 or so. With DS 1, I was also on bed rest for a sac leak post cerclage so amnio was no at option, with DS 2 it was an option, we did not have an amnio in either pregnancy.

    Long story (sorry), now short; overall the risk in amnio is roughly 1:200 of all procedures, not just those with negative results (i.e. the baby had a trisomy that was already incompatible with life.) In reality, the risk of problems from the procedure is higher than 1 in 200, or LESS likely to occur. I suggest talking to your Doc, who hopefully is trusted and someone you're higher risk for DS and the only way to know prior to delivery is to have an amnio. Also, ask the Doc who would perform the procedure their complication rate is, an experienced Doc would make a world of difference.

    Genetic counsellors deal solely in numbers and don't know your entire case. The triple screen and NT are only general screens so they always advocate for the hard scientific screen of the amnio. Also, consider whether you can mentally and emotionally handle waiting the next 27 weeks worrying about the what if's?

    Whenever I was borderline hysterical thinking about all of this focussing on the little one helped me to calm down, fear and terror aren't good for either of you. Whatever you decide, take good care.

    ETA: Insulin and/or diabetes do not increase your chances of loss from the procedure. There also wasn't much good data around on whether women with recurrent loss have an increased chance of loss from amnio either--I last researched all of this early 2007 so there might be some new studies. Check out pubmed if you're interested.
    Last edited by Blondie8; 11-25-2008 at 11:07 PM.
    “Children don’t belong to us. They are litle strangers who arrive in our lives and give us the pleasure and duty of caring for them–but we don’t own them. We help them become who they are.” Gloria Steinem


  4. #3
    WorriedSick
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    Quote Originally Posted by Blondie8
    In reality, the risk of problems from the procedure is higher than 1 in 200, or LESS likely to occur.
    Hi Blondie,

    Thank you for responding. If the risk of procedure is higher, isn't it MORE likely to occur? Just want to make sure I'm understanding this right.

    I also realized that the genetics counselor works for the lab that will be carrying out the genetics test on my amniocentesis. There is a conflict of interest there and this may be why she is pushing the amnio so hard. I actually complained about her to the physician who told me that I have a 99.3% chance of having a very healthy baby, although she made it sound like it was such a bad thing!

    Surely, there has to be some ethics she's violating here?

    Any opinions?

    Thanks again!


  5. #4
    DixieDoolittle
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    Worried - at what stage in your last pregnancies did you miscarry? Was it in the first trimester, and were you able to determine the cause of it? Talk to your doctor about the miscarriage risk of amnio before you do it - but remember, most first trimester miscarriages are the result of abnormal development in the embryo - by the time you get to the second trimester (when the amnio is performed), your "natural" miscarriage rate has dropped substantially.

    Because of my age (39) I've had a CVS (chorionic villis sampling) and an amnio, one at 12 weeks, one at 16. The amnio was a breeze - just a little uncomfortable pressure. I took off two days afterwards to just keep my feet up.

    And I've dealt with the genetics people before. It's natural to think they're trying to "push" something on you. However - when you get past that magical age of 35, the risks are higher for just about everything except, say, winning the lottery (would that that would be so). They are just doing their jobs, and these are just "risk assessments" based on non-definitive tests (precisely why DH and I decided to skip them and go directly to the genetics testing).

    The question you need to ask yourself (and Blondie put this perfectly) is how will you handle the next 27 weeks not knowing?

    If a Down's baby is something you would accept and not terminate over and you think you can handle the additional stress of worrying, then don't do the amnio.

    But if you think you'd be 1) better off knowing that your baby is chromosomally normal or 2) better off knowing in advance so that you can prepare for a Down's baby, do the amnio.

    Here's my story - and I'm not telling this to scare you, I just want you to know I speak from experience here: I did four attempted rounds of IVF, conceived on the last one. We did CVS which came back with a very rare trisomy (16), and had 7 long weeks to wait before doing a follow-up amnio and getting the results. My baby is chromosomally normal, but what we've learned is that my placenta is effected with something called mosiacism trisomy 16, which means the baby will likely be born with inter uterine growth restriction (a small term baby, probably no more than 5 pounds but most likely to catch up in growth by 2 years), and a possibility of pre-term labor. This condition is so very, very rare that the genetics counselor didn't even mention it to us before the testing, and I could barely find any information on it on the internet.

    Had I NOT done the CVS or the amnio, we never would have known and I would not be getting the ramped-up care I'm getting now. I see a perinatologist - one of the best in the region - and I am getting frequent, detailed sonograms and echocardiograms until the baby arrives.

    I won't lie - this is stressful. BUT - I would rather KNOW what we're dealing with in advance than be caught unawares in my 7th month with pre-term labor and a very small baby with no knowledge of the causes and no preparation for the results. Knowledge IS power - and as mothers, we need to have knowledge in order to advocate for ourselves and our babies.

    Good luck to you, and remember: the risk assessments are RISK assessments, not a definitive result. The chances are that your baby is FINE. Hang in there!
    Last edited by DixieDoolittle; 11-26-2008 at 06:34 AM.
    Dixie

    Me 40 DH 49

    FSH 15.5, 7.5

    2 IUIs, 2 IVFs = Thomas delivered at 28 weeks 1/09

    TTC #2 on our own - 13 times is the charm! BFP 6/10!


  6. #5
    Blondie8
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    Quote Originally Posted by WorriedSick
    Hi Blondie,

    Thank you for responding. If the risk of procedure is higher, isn't it MORE likely to occur? Just want to make sure I'm understanding this right.

    I also realized that the genetics counselor works for the lab that will be carrying out the genetics test on my amniocentesis. There is a conflict of interest there and this may be why she is pushing the amnio so hard. I actually complained about her to the physician who told me that I have a 99.3% chance of having a very healthy baby, although she made it sound like it was such a bad thing!

    Surely, there has to be some ethics she's violating here?

    Any opinions?

    Thanks again!
    My apologies for being so confusing; long day, teether toddler.

    What I was trying to say is that the typically quoted 1:200 is based on studies that looked at the rate of complications for amnios on all pregnancies ("normal" or otherwise). Those pregnancies that had a pre existing condition such as a trisomy (including those with a significant chance of the baby not living to delivery) are included in the 200.

    Therefore, amnios are less risky than 1:200, and the number would be higher--some studies cite #'s between 1:230 and 1:250. In other words, some of the losses from amnio include those pregnancies in which the baby would likely have not lived to delivery already not due to the procedure itself. The 200 is NOT based on only healthy pregnancies but all pregnancies where the amnio is performed.

    My experience with genetics counsellors has been that they are mathematically based, it's all about the #'s to them. Here in Canada we don't have the issues of billing and business as it's all a single system. Essentially they give you the odds, based on your screening tests, then tell you that the only way to really know is to have an amnio. Unless they're delivering a normal test result on an amnio or a CVS, they're likely delivering worrying, upsetting news and I imagine most become pseudo mental health counsellors as no doubt people freak out all day long in their office. (Me included) In the end, all they can really do is recommend the definitive test (in identifying some genetic conditions) and they really don't have alot else to offer.

    Hope this helped, sorry for the confusion.HOpe you're feeling better today
    “Children don’t belong to us. They are litle strangers who arrive in our lives and give us the pleasure and duty of caring for them–but we don’t own them. We help them become who they are.” Gloria Steinem


  7. #6
    WorriedSick
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    Bit the bullet...

    And scheduled the amnio. The docs at this practice quote an m/c rate of 1:1000 which is much smaller than 1:128. Given my history of m/cs, I may have a slightly higher risk but I am leaving this up to God.

    I may still change my mind. But I am hanging in there and getting ready for all eventualities.

    Thanks for weighing in Blondie and Dixie.


  8. #7
    wishing
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    I passed all my early screenings and had very high results, 1 in 10000. However later in pregnancy they found a cyst on the babies brain which could be an indication of ds. I met with a specialist who said that although the risk was high in theory, becuase the babies heart, and other organs were exactly what they should be she actually suggested against the amnio.

    Just wondering if you could get the docs to do an echo, and ultrasound to measure organs and see if they all come back normal. The specialist told me that it is very rare to have all the organs measuring perfect especially the heart and then have a child with DS.
    DS (6)
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    DS born Feb 5, 2009 DIED OF SIDS April 2 2009 Twin!
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