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  1. #1
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    Default High risk NT result - high beta hCG and low PAPP-A - any advice

    Hi everyone

    Its been a while since I've posted here. This is going to be a very long post, so I won't be offended if you choose to stop here.

    A bit of background information about me before I get to my questions:

    I am 26 years old, my husband is 30 years old and I am 13w2d pregnant with our second child, with a due date of 7 October 2013. As with our first pregnancy, this baby was conceived on 75mg of clomid due to unexplained ovulation issues.

    My first pregnancy produced a beautifull, healthy baby girl who was born at 36 weeks exactly two years ago (its her bithday today) due to severe pre-eclampsia (I had no symptoms or issues leading up to the 36 week mark, it came on very suddenly). As a result, I am currently on 100mg of cartia (aspirin) to mellow my blood pressure and hopefully prevent it from happening again, or atleast mitigate the severity. Our NT result for the first pregnancy was in the low risk category, around 1:1050.

    So far I have had 3 scans during this pregnancy - one at 8 weeks with our OB, which showed the baby measuring at 8 weeks exactly with a healthy heart beat, one at 12w3d for our NT test at an imaging centre and one yesterday at 13w1d at our regular OBGYN appointment.


    At the NT scan and yesterday's OBGYN scan the baby was extremely active, bouncing all over the place and swimming around happily. This was reassuring to see. Baby's heart beat at the time was 153bpm.

    I have had moderate morning sickness since finding out I was pregnant at about 5 weeks. I have had severe nausea and aversion to food but until this morning (more about that in a minute) I had managed not to throw up.

    Our NT scan went well, the baby seemed to be thriving and I believe measuring slightly ahead (atleast the head measurement was). The sonographer had trouble getting measurements due to baby moving around too much, but in the end she got the measurements she needed and everything with the baby's anatomy checked out (nasal bone detected and measured, kidneys, bladder and stomach all normal and from what we could see, a normal spine). With her comment of 'it all looks great' we left the appointment feeling positive. I had already had my bloodwork done the week before to expidate the process.

    We had a regular appointment with a fill-in OB yesterday as our regular OB is on holidays. She hadn't received the full report from SAMSAS yet due to the easter public holidays but advised she would write to us when it arrived and only call if there were any concerns with the results. The scan she did showed a bouncing, seemingly healthy baby and she even commented that he/she had a 'beautiful profile'. We left feeling even more encouraged, as we truthfully weren't particularly concerned about the NT results due to our young age and lack of prior history with any genetic issues.

    Yesterday evening as we were about to sit down to dinner, the OB on call phoned me to advise that the NT results had come in and that the baby was classified as being at an increased risk of having down syndrome with a risk assessment of 1:150. She went on to tell me not to worry too much and that my odds were still pretty good but that she wanted us to come in to discuss our options. I was (and still am) very shocked and was very upset last night and this morning about the result. I realise that its not as high risk as some, but with our age, good health and a previously non-eventful test during our first pregnancy, I wasn't expecting a result in the high risk category. This all the day before our daughter's second birthday, which made me feel even worse as I wanted to be as alert and happy as I could be for today. My husband is concerned too but is being really sensible and not jumping to conclusions as yet.

    We made a time to see another fill-in OB this morning to discuss. He wasn't particularly helpful or sympathetic, and seemed a bit at a loss as to what to tell us. He could barely locate the results on his screen. He said that the increased risk was due to my blood work, as the scan yielded a healthy baby with no noticable abnormalities or markers. My beta hCG levels at 1.76 MoM and PAPP-A levels at 0.47 MoM were both too high and too low, respectively. He asked if I had bad morning sickness and when I said yes he said that it would have been due to my hCG levels being double what they should be at this stage (ironically, when we stopped at a local park after the appointment for my daughter to have some play time I felt so sick that I threw up at the park. Not sure if this was due to stress or m/s, but either way it wasn't pleasant timing).

    He then went on to say that its a rather large window for 'normal' hCG levels at this stage - so he really wasn't confident enough to reassure me. I know from my own research that low PAPP-A can point to pre-eclampsia and potential pre-term birth amongst other things, but he couldn't confirm or deny that theory when I asked him. Its already a given that I'm at relatively high risk of developing PE again, but I'm being monitored accordingly and am mentally prepared if it happens again.

    In the end, he gave us our options and, understandably, he couldn't recommend a direct course of action (which is fine, I understand that they can't sway your choice but can only lay out the options). He didn't seem particularly concerned and didn't seem to think CVS was necessary, which suited us fine as I had already decided against that particular procedure. He seemed to think that amnio was the way to go if we weren't 'comfortable with the risk factor'. In the end we decided to wait and see our regular OB when he returns from holidays in 2 weeks and seek his advice, and then make a decision from there. There is another OB at the practice who himself performs the amnio procedure 4 times a week and has done for years, and he along with one other specialist are the two most well-known and well-respected in the field where I live. If it came to it, I know that we would be in good hands, despite the added risk of having a miscarriage due to the invasiveness of the procedure.

    I don't want to come across as being ungrateful or that any outcome that suggests a baby with d/s would mean the end of the world, but ofcourse we all want the best for our families and in our situation I don't know what we would do if the results were not good. I am trying to tell myself that 1:150 are still good odds in our favour, but its hard to think that way when you compare it to other test results that are in the thousands.

    I should mention that, according to the SAMSAS report (which I obtained a copy of today), I am not at increased risk of Trisomy 18 - the risk assessment for that came back at 1:15888 - so its just the Trisomy 21 assessment that wasn't good.

    I'd love to hear from you if you've had any experience with this, can you tell me:

    - What did you end up doing in terms of testing?
    - Were there any adverse side effects from the amnio?
    - If you didn't test, how did things turn out?
    - Do you know of any other reason why my hCG levels and PAPP-A levels could be so out? (hCG too high and PAPP-A too low).

    We ultimately want whats best for our baby but we are between a rock and a hard place, as many parents before us have been, and don't know whether to take the chance with the amnio despite the risk or be content with further scanning. I know that with my anxiety either decision will make the next 6 months very trying for me but I know that either way we need to just decide.

    Thank you for reading this ridiculously long post, I really appreciate it.

    Sherry

  2. #2
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    I'm sorry you're in such a stressful situation - it is always so hard to know what to do.

    Did the OB mention the option of having a blood test called iGeneScreen or any of the similar tests? (I'm starting to sound like a walking advertisement for it, but I was so happy to discover it was available.) There are a few similar tests around in the US - eg. MaterniT21.

    I had the test done in Perth, so not sure about arrangements in the rest of the country. It consisted of a blood test, cost us $1350 (not rebateable from Medicare) plus the cost of an OB consult to get the referral, and the results took 2 weeks. The sample was sent to China for testing where they somehow isolate the very small amount of fetal blood that makes it into your own blood ****** and then do genetic sequencing.

    At the moment, they're claiming that the test picks up 99% of T21, T18 and T13 cases with a 1% false positive rate, so only slightly less accurate than CVS or amnio. They do suggest though that if the test detects one of these conditions, it's still advisable to have an amnio to confirm.

    In the end, the decision of whether to have an amnio or to pay for the expensive blood test or to do neither really depends on what you'd do if you received a diagnosis of Downs. If you'd continue the pregnancy regardless, then there is probably just unnecessary stress involved in having an amnio. But if you'd consider a termination, then it depends on how quickly you want an answer. Before you choose a course of action you really need to decide between the two of you how you'd react to a diagnosis of Downs - and it is a tough conversation, I know.

    It's a stressful time - but try to take some comfort from knowing that the odds are that your baby is fine (149 in 150)! Wishing you all the best!

  3. #3
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    Hi
    Really sorry you're going through this. I haven't had the experience you are having but hubby and I did discuss what we would do with higher risk results. The way I looked at it is we would not do further testing unless we were 1:100 or higher risk. In terms of 'gambling' if someone said to me if you play the lottery this week you'll have a 1:100 chance of losing and 1:99 chance of winning I would definitely play those odds. I know its quite a detached way of looking at it but it really helped my decision making.
    Sorry I couldn't be more help! Xxx

  4. #4
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    Hi,

    When I was pregnant with DS, we were placed in a similar situation, it is pretty stressful. Like you, our NT scan was perfect but I had high HCG and low Papp-A levels.

    We were given a 1:21 chance of T21 as a result of my blood work so we decided to have a CVS to find out as soon as we could if there were any issues. This was a bit stressful but the procedure itself was fine with no side effects. If there was the option of that new blood test back then I probably would have done that instead. The CVS and testing cost about $1500 privately anyway so the costs seem similar but the blood test is not invasive like a CVS or amnio.

    The worst thing for us was the waiting and uncertainty (which luckily was only for 1 week until we got the results back).

    Our results were all clear and I had no issues with the pregnancy. I did have extra monitoring in the 3rd trimester because of the low Papp- A but there were no issues and DS is now a happy and completely healthy 15 month old.

    Hope all goes well for you and try not to worry too much (easier said than done I know). Your odds are not too bad and the fact that the scan was fine is encouraging.

  5. #5
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    We were given 1:53 odds due to high HcG and Low Papp-A and decided to have an amnio (all clear). Our obst was of the opinion that our IVF drugs may have skewed the results. Not sure if it's the same with clomid.

    My amnio went fine with no effects.

    As suggested by Gentoo, if money is not an issue, the blood test seems like a reassuring way to go with no increased risk. If it was available when I had my amnio, I would have gone that way.

    From your post, you seem to be feeling like you really need to know one way or another and that is absolutely understandable. You just need to decide how it's best for you to find out: CVS, amnio or blood test.

    Good luck. It is so hard - I was a complete mess for weeks until we got the all clear. Nothing we can say is going to make this easier for you unfortunately

  6. #6
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    And Happy Birthday to your DD !

  7. #7
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    Like Gentoo I had the blood test done here in Perth. I highly recommend seeing if you can get it done (if money isn't an issue). You'll need an ob referral so maybe it's something you can start in process while you're waiting for the results. Mine took about 2.5 weeks to come back.

    As for risks of miscarriage, it can be a little misleading as some technicians have a zero rate of miscarriage - it depends so much on who is doing the procedure.

    Good luck and I hope you're managed to enjoy your DD's birthday xx

  8. #8
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    Thank you all so much for replying to my post and for your encouragement and suggestions. I'm really glad that for those of you who faced a similar situation that everything turned out fine

    Gentoo, I've read about the test but I don't think its offered where I live When I asked what our options were for testing it wasn't mentioned. I suspect its something that they haven't caught up with yet but I'll certainly ask. I had decided against the CVS even though it would give us a result a lot sooner, but I feel slightly less uncomfortable with having the amnio so if that was our only option I would go with it.

    LaDidah, I know what you mean. In the grand scheme of things its still not a super high chance, I am just so accustomed to hearing figures like 1:5000 or 1:18000 that it makes the 1:150 look very dire. We have always discussed and agreed on our course of action if things took an indisputable turn for the worst that we would likely not continue with the pregnancy. But its very hard to even entertain the idea now that I'm actually pregnant. Having said that, I believe deep down that it won't get to that in this case.

    Gizmo, DH and I were open to doing amnio and as the day has progressed we have come to realise that we can't not know. I know that it will affect us both deeply for the next 6 months and I won't be as healthy and happy as I should be, which won't be good for the baby either. As you said, I'm a need to know person - not a good thing sometimes as I can't let things go

    DailyDiversion, I'm really glad that everything turned out okay and that bub was delivered healthy and happy I suspect I'll be monitored even more closely because of the low PAPP-A result but I'm already being monitored for hypertension due to my experience with PE last time, so my OB isn't taking any chances. I just wish he had been there today, they more than deserve their holidays but its so hard to think selflessly when all you want is to see their face and hear it from them directly!

    Sonja, I will ask about the blood test but I have a sneaking suspicion that it isn't offered here. It sounds very promising though, despite the cost, and I'm sure it would be a very welcome relief for other expectant parents who might face this type of situation.

    I just wish I knew what was causing the high hCG levels etc. Not having any other reason or cause makes it seem even more likely in my head that something's not right. I need to stop thinking that way, I know.

    Thank you all so much too for your lovely birthday wishes for our DD She has had a wonderful day and I hope (I think) hasn't picked up on too much of our anxiety. She had a good play at the park, had her favourite food for lunch and had afternoon tea with a very poorly made igglepiggle cake with family. She's now happily playing with her new pressies. Ofcourse being the emotional mess that I am, I've been getting teary watching her play.

    I think we have pretty much decided to go with the amnio (if the blood test isn't an option) so I think we will be contacting the OB office in the next couple of days to discuss what we need to do to set it up. I will still have to wait atleast 2 weeks to have it done and, if the FISH option isn't available here, another 2 weeks for the results. Its going to be an agonising 4 weeks but I think its ultimately for the best.

    I'll keep you posted on what happens, once again thank you for reading my long posts

    Thank you all again for your support, I really appreciate it.

  9. #9
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    Good luck.

    I know it will be a long few weeks for you. My only advice is to keep busy.

    It would be great to hear how you go - I'm sure it will all work out for you

  10. #10
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    Thank you gizmo I rang and booked in the amnio procedure for Wednesday the 17th of April (I'll be 15 weeks on the 15th). I feel a bit better about it now knowing that I'm doing this. I hate intervention but I think its the best thing for us right now. I'll definitely come back and let you know how it goes, I don't know if the fast-track option is available here but I'm crossing everything that it is because its going to drive me crazy not knowing for another two weeks after that. I'm also crossing everything that the scan they do will be okay, but I am positive about it because so far everything has looked great on the scans.

    I work 3 days a week and we have a pretty busy social life, plus I'm teaching myself to sew, so I'm going to try and focus on that. If I keep dwelling on this I'll end up in the psych ward!

    ps. The blood test isn't offered here yet - they are working on it but it hasn't been introduced at the practice yet. Nevermind, I am comfortable with the doctor who is doing the procedure as he does 4 or so a week and has done for many years, and the fill-in OB we had yesterday said that in his own personal 6 years at the practice he hasn't heard of any m/c as a result of the procedure being performed by that doctor. So fingers crossed that we are doing the right thing.
    Last edited by Rose87; 04-04-2013 at 11:10.


 

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