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  1. #1
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    Default Elevated Trisomy 18 Risk with Low Papp-A ??? Advice needed

    I was just in to see my GP with results from my NT scan and blood testing. She said I have a 1:142 risk of Trisomy 18, with more testing to come(amnio I'm guessing?). Not sure what to think about this? My last pregnancy was completely normal and I have no history of genetic disorders. I'm 23 years old, normal weight. She also said I have low Papp-A (not sure of the exact number as she didn't give me my page of results) and then went on to say I have a dysfunctional placenta. She said she's concerned but can't say for sure obviously what the outcome will be. She added that even if the baby turns out negative for T18, I'll still have to be closely monitored because of the placenta. Anyone have any experience with any of this? She wasn't clear on what I need to do or not do or if I need to be worried!

    Thanks for any help!

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    Hi Ky,

    I would recommend getting a specialist opinion rather than going off what your GP has said.
    When I went to get my NT test, the scan came back absolutely fine but my papp-A was very low, which dragged down all my risk results. I think at first my risk for T18 was 1/81, and T13 was only just slightly over 1/100. My GP didn't give me any advice besides referring me on to a specialist.

    When I got to the specialist, they did another scan, and the baby looked absolutely fine then too. The specialist had very strong feelings that the low papp-a was a possible indicator for third trimester problems (placenta issues, premmie birth, pre-eclampsia etc), but he was emphasised that it was only an indicator, and not definite. Plus he basically said that being forewarned is being forearmed, and the docs would be able to prepare or manage better. He did still recommend doing an amnio to ease our worries (even though he was quite confident of what the results would be) so we did do that and got the all clear

    Good luck!! don't be scared from what your GP is very badly trying to say.

  3. #3
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    Ky, mine was 1:25 for Downs due to low papp A only (it was REALLY low) everything else was totally normal.

    I was already seeing an Obstetrician. So we did a CVS (which you can get earlier than amnio) but based on your results amnio looks the way to go as CVS is at greater risk of causing harm to your baby than the risk that your baby has downs. Amnio is much safer.

    For piece of mind the CVS was fantastic and we knew we were having a boy from 14 weeks.

    I'm now 21 weeks. I have VERY low papp A which the effects will be monitored with growth ultrasounds regular appointments with my OB. I think our next ultrasound is at 28 weeks (when we hit 3rd trimester) with another at 30 or 31...

    At the moment, my little guy is measuring ahead... so hopefully that means all is well.

    Its a bit of a shock getting these results, good luck with what you end up deciding to do.

  4. #4
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    Hi

    I am in a similar position. This is my first pregnancy at 30, my 12 week scan was all perfect (neck thickness of 1.7mm), but my PAPP-A result was 0.5 ui/L giving me an overall risk of DS of 1 in 263. My biggest concern is the risk of miscarriage from CVS/amnio is greater than my risk of DS.

    I have a GP appointment tomorrow, but I don't know how much my GP will know about it all - who is the best to speak to about everything? I am a public patient at Mater Mothers Brisbane, but don't mind paying if it means quicker answers/results.

    Any advise would be great, this is all so new to me...

  5. #5
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    Quote Originally Posted by OMG Im pregnant View Post
    Hi

    I am in a similar position. This is my first pregnancy at 30, my 12 week scan was all perfect (neck thickness of 1.7mm), but my PAPP-A result was 0.5 ui/L giving me an overall risk of DS of 1 in 263. My biggest concern is the risk of miscarriage from CVS/amnio is greater than my risk of DS.

    I have a GP appointment tomorrow, but I don't know how much my GP will know about it all - who is the best to speak to about everything? I am a public patient at Mater Mothers Brisbane, but don't mind paying if it means quicker answers/results.

    Any advise would be great, this is all so new to me...
    Hi OMG,
    My results were quite similar to yours (NT of 1.0mm), very nice scan, but with a miserable Papp-A result of 0.18 (way worse than yours actually). I'm in brisbane too and would definitely recommend asking your GP to refer you to Frank Carmody (http://www.fetalmedicine.com.au) who's a specialist in this field.

    He was absolutely lovely when we went to see him, and very upfront/reassuring regarding our results and scans. He'd be able to better advise you on your options, and if you do decide to go down the amnio/cvs route he's the man you want to do it with anyways. We did an amnio with him, and his average statistic is around 1/700, as opposed to the general average of 1/200. We finally made our decision to have an amnio based on two things: my inability to cope with not knowing, and the fact that our baby had a higher risk of having Trisomy 18 than us getting a miscarriage from Doc Carmody doing the amnio.

    Good luck with everything and I'll be keeping my fingers crossed for you!

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    OMG Im pregnant  (22-08-2012)

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    Thanks Rainaberdine, I am off sick from work today (only a head cold) and have been looking at Dr Carmody (there is a clinic at Sunnybank - near me). I was wondering if he would just want to talk about our options first or just want to do the test, but it sounds like he will. I will get the GP to do me a referral for him tomorrow.

    Do you remember how long you had to wait for an appointment there?

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    Default Elevated Trisomy 18 Risk with Low Papp-A ??? Advice needed

    We had a similar situation when I was pregnant with DS. The nuchal scan was perfect but the blood results, particularly low Papp-A levels resulted in a risk of 1:21 of DS having downs. We decided to have a CVS test which showed no chromosomal abnormalities.

    Also, because of the low Papp-A levels, I was monitored a bit more closely during the third trimester due to the correlation with placental issues. Thankfully, we didn't have any problems and DS was delivered at 38 weeks with no health issues.

    We did all of our pre natal scans and testing privately at SOGI at Southbank;
    http://www.sogi.net.au/MintDigital.NET/SOGI.aspx

    They were very professional and lovely to deal with. Everything was thoroughly explained and we had our results back very quickly.

  9. #8
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    Quote Originally Posted by OMG Im pregnant View Post
    Thanks Rainaberdine, I am off sick from work today (only a head cold) and have been looking at Dr Carmody (there is a clinic at Sunnybank - near me). I was wondering if he would just want to talk about our options first or just want to do the test, but it sounds like he will. I will get the GP to do me a referral for him tomorrow.

    Do you remember how long you had to wait for an appointment there?
    Hi Omg,

    Dr Carmody would probably scan you, look at results and talk to you about your options first, and then let you decide. He won't push you to have the amnio/cvs on the spot I don't think (well he didn't with us). Also, with doing a cvs, you can do it from 12 weeks to a certain timeframe (not too sure), but with an amnio you can only do it from 14 weeks onwards. So when we got into see him we were just at 13 weeks and he advised us to go with an amnio instead of a cvs, mainly because the cvs had a slightly higher chance of getting inconclusive results etc. So we had a week to wait till we got to the amnio day.

    Honestly I can't recommend him highly enough. He's the loveliest doc and spent more time reassuring me that he felt the baby would be fine chromosome-wise. Just like DailyDiversion's docs, he felt more strongly that it possibly meant more observations/screenings in the 3rd trimester for a higher possibility of placenta/pre-eclempsia problems instead.

    I know there's absolutely no point in saying "don't stress", because i certainly did the whole 2 weeks before I found out the FISH results so I'll just say good luck If you do decide to go with doc carmody, make sure you book for monday or wednesday at the sunnybank clinic as those are the days when he'd actually be there and will be able to talk to you face to face.

    Good luck and try to stay sane for the next few weeks!

    p.s. it was really easy to get an appointment. I could have seen him the next day if i wanted to.
    Last edited by rainaberdine; 22-08-2012 at 16:42.

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    OMG Im pregnant  (22-08-2012)

  11. #9
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    Hi everyone

    I just thought I would follow up on my story. With a 1 in 263 risk of DS, we decided to do the amino. As recommended we saw Dr Carmody at Fetal Medicine for the amino. I thought he was fantastic and so was the ultrasound tech (in fact I think we will try and go there for the 19 week scan).

    I won't lie, the amino hurt. It was a aching pain (not sharp) at my lower back and it takes a few minutes to fill the syringes. I was fine afterwards (no cramping, blooding or fluid leakage). We got the FISH results the next day and everything was normal. We still have another week before the full results are back, but it doesn't usually change from the FISH test.

    So we were happy with our choice of doing the test (for piece of mind) and all things going well, are expecting a bouncing boy (one bonus of doing the amino - we know the sex at 14 weeks) in early March.

  12. #10
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    Hi OMG,
    good to hear that you've got the all clear from the amnio. We just got back from our 19 week scan with him too and he was lovely as usual. We'll be going back at 28 weeks for another scan and will probably stick with him for all scans I think.

    Congrats on the little boy! We're having one too

  13. The Following User Says Thank You to rainaberdine For This Useful Post:

    OMG Im pregnant  (15-09-2012)


 

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