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  1. #1
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    Default The next hurdle in my pregnancy............high chromosomal abdomality risk

    Hi Ladies, i am currently in the awful waiting and not knowing period between finding out I have a high chromosomal abnormality risk and getting an amnio to rule out or confirm.

    My Ultrasound was fine NT: 1.95mm, nasal bone present, heart appears normal.

    My blood work is were things start to look bad;
    Free beta Hcg: 3.0390 MoM (3 x normal)
    PAPP-A: 0.3275 (well below healthy range)
    I am 33, white, non smoker, 58kg

    My doctor called me in urgently to inform me my adjusted risk for Down's Syndrome was calculated as 1: 28

    I couldn't sleep the night I found out. It is still the first thing I think about in the morning and the last thing on my mind at night. I am feeling more positive now when I think of the ratio as a percentage. My baby is 96.4% likely to be normal and 3.6% chance of having Down's Syndrome. Here is a link for those who would like to calculate a percentage
    http://www.miniwebtool.com/ratio-to-...ge-calculator/

    I would appreciate if anyone could help me with these questions and share their similar experiences;

    -Anyone had a risk ratio of around 1:28 and what was the outcome?

    -What is the difference between Free beta Hcg and the Hcg they measure in early pregnancy? I always thought a high HcG level indicated a healthy baby.

    -Has anyone had a confirmed DS diagnosis with only poor blood results and no ultrasound markers?

    -Why is the presence of a nasal bone not factored into your risk ratio?

    -Is a small biparietal diameter a down's syndrome marker? The ultrasound showed a crown rump length equivalent to 13w6d but the BPD was 12w6d. The ultrasound tech did not mention it was a problem. I have read that it is okay as long as the head circumference is normal but my results do not show this parameter.

    -Any experiences of problems eg. placental issues with high free beta Hcg and low PAPP-A? This will be my next concern if the amino comes back negative. My baby was however measuring 4day larger at 14 wks than at the 8 week dating scan.

    Thanks for reading. My sympathy for those in a similar situation.

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    did you do IVF ?

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    Natural conception but I did fall pregnant 2 weeks after a D&C from a 10 week miscarriage.

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    Sorry cant help then. Annecdotally seen a lot of low Papp-a and high first trimester screens in IVF.

    You have lots of reassuring features (small nuchal fold and present nasal bone) so hopefully it's just the Papp-a throwing off your results.

    Good luck

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    Hope everything is ok

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    Default The next hurdle in my pregnancy............high chromosomal abdomality risk

    Sorry to hear you have to go through this, I also went through this recently and yes I know the feeling of waking up everyday feeling sick something is wrong.

    What is reassuring is your scan, my scan was also perfect but bloods were off. The baby is fine. My hcg was 2.1 and Papp-a .33 and we were given a 1:220. We did do ivf so we thought that was a contributing factor.

    If your baby is fine, I think they monitor your placenta function due to low Papp-a. They monitored mine, so far the placenta is working properly 34+6 days but I do have a complete Placenta Previa so I wonder if that had anything to do with the bloods.

    It is a terribly emotional taxing time for you, I hope everything works out fine.

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    A friend of mine recently went through the same thing, so she went and had a CVS test and the results came back just fine. After her experience I have decided to go straight to the CVS test. I hpoe everything is fine for you too and remember it is also important not to be stressed. although I can certainly understand why you have been.

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    Default The next hurdle in my pregnancy............high chromosomal abdomality risk

    Your odds look really good

    Nasal bone, small NT and no other abnormalities on the scan. Everything should be ok, but if you get neg results just make sure you have a few extra USs throughout the rest of your pregnancy.
    Goodluck and all the best, it's such an emotional time hugs to you Hun. Let us know how you gox

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    You poor thing, the stress drives you crazy doesn't it!

    I had a similar situation, my scan looked ok but the bloods threw everything out. I think my odds were about 1/100. We did the amnio and everything came back fine.

    My ob said it's so common and she sees it a lot. It doesn't help the stress though! I'm crossing my fingers for you that everything is ok

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    I'm so sorry. We've recently had an amnio due to a high risk NT (1:61 for Down Syndrome), but luckily all came back normal. A very very stressful time, though.

    Like you, our measurements were all normal, so the high risk was only based on the blood test. My hCG came out as a bit higher than normal, but the main part was that the Papp-A was very low.

    I'll do my best to answer some of your questions, but I don't know the answers to them all.

    -What is the difference between Free beta Hcg and the Hcg they measure in early pregnancy? I always thought a high HcG level indicated a healthy baby.

    I don't know, but we were told that the ratio between the hCG and the Papp-A was what counted most. With my first daughter we had a normal NT, and my hCG was almost identical this time to then. The difference was that, with her, Papp-A was higher, making the ratio more normal.


    -Has anyone had a confirmed DS diagnosis with only poor blood results and no ultrasound markers?

    Yes. I also have 2 friends who have had this happen too. It seems to occur with IVF, but I have had it happen with a friend who conceived naturally too. The dr told me that likelihood of the baby being normal if the high risk is based on bloods rather than measurements is BETTER than if it is the reverse.


    -Why is the presence of a nasal bone not factored into your risk ratio?

    I don't know. But I was told that it's possible for a baby to show up as normal on the morphology scans but still have a chromosomal problem (such as Down Syndrome).


    -Is a small biparietal diameter a down's syndrome marker? The ultrasound showed a crown rump length equivalent to 13w6d but the BPD was 12w6d. The ultrasound tech did not mention it was a problem. I have read that it is okay as long as the head circumference is normal but my results do not show this parameter.

    I don't know.

    -Any experiences of problems eg. placental issues with high free beta Hcg and low PAPP-A? This will be my next concern if the amino comes back negative. My baby was however measuring 4day larger at 14 wks than at the 8 week dating scan.

    I was told that if Papp-A is very low then this MAY indicate placental problems, which would simply mean monitoring the pregnancy a bit more closely, with extra scans toward the end. However, there is a cut off point at which they consider the Papp-A low enough to be a concern. Mine was pretty low, but not low enough for them to be worried about placental problems.


    Sorry I can't offer anything more helpful. It was a terrible time for us, and I do know how all-consuming it is. I hope you can have your amnio soon, and gain some peace of mind. I'd also advise NOT doing what I did, and having an amnio on a Friday (which meant waiting until Monday for the result, when they usually told people on the same day)!


 

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