worries relating to Chromosonal Abnormalities, heart problems. am i going mad?

Discussion in 'Second Trimester' started by princessp, Sep 28, 2016.

  1. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    hi ladies.

    I shall start at the beginning. My combined screening came back as 1 in 3000 which is low risk( although significantly higher than the 1 in 100, 000 i had two years ago. ) After my appointment with midwife i looked in to my results further and noticed that my PAPP score in particular was low at 0.51. it is on the very low side whilst still being just within normal range.

    i wasnt too worried about that on its own however during anomaly scan, sonograoher said she saw some additional fluid around babys heart. she said to come back in a week. additional fluid around baby's heart can indicate possible heart defect and /or chromosomal.abnormalities like downs syndrome. when i returned a week later a different sonographer did see some fluid but said that it was within normal range in her opinion. i was relieved but still worry why first sonographer thought it was outside normal range and i dont think anyone has combined this possible marker for downs with my low papp score. should they have readjusted my risk calculation?

    despite having two things which may or not be there but are possible markers for downs etc, i decided to put it to the back of my mind.

    anyway today i had my 24 week appointment and my fundal height was measured. I knew i was looking big and have done throughout pregnancy, however baby was measurring a little behind at anomaly scan so thiught it may have been my shape etc making me look bigger. anyway today when she measured me , the midwife seemed surprised at how far up my torso my womb was. she measured me and i meausred 27cm, confirning that i have got a huge bump! she said that at this stage i didnt need to get it checked out.

    when i ask what would make my womb so big, she said a possible big baby( baby would be measuring 3 weeks in front to make my womb as big as it it) . i cant see how my baby wouldve gone from being a bit smaller on dates 4 weeks ago to being to huge now. or she said it could be excess water in womb.

    ive just looked up extra water and the possible reasons/causes, and it states that one of the main causes for excdss water is down syndrome or heart defect.

    so now three seperate things have shown up for downs/heart defect.

    i feel that there has been no consideration that three things have shown up together. for example, sonographer was not aware of low papp score, midwife today isnt aware that they picked up ossible fluid on babys heart previosuly or low papp score.

    am i being crazy? i feel like if i bring ot up to midwife they will fob me off as being an overly anxious expectant mother who googles too much. however i cant shake off thenfeeling that something is wrong with three seperate markers indicating possible downs/heart defect.

    i would really aprreciate your thoughts.
     
  2. Holi

    Holi Well-Known Member

    Joined:
    Sep 3, 2012
    Messages:
    1,997
    Likes Received:
    0
    As a rational person I would say stop overanalysing/googling

    As a slightly anxious first time mum (which I was 3 years back) I would do/think the exact same way as you.

    Personally I would have to ring someone and express my concerns, you can't spend the rest of your pregnancy worrying about this (and you will!) even if you try and put it to the back of your mind it will always be niggling away and could potentially spoil the rest of your pregnancy.

    When/if you bring it up with a midwife do not let them fob you off! Make them aware how much this is stressing you out and I'm sure they will try there best to ease your mind however they can (maybe another scan)

    Would you consider going private for a harmoney test? I know that's used to decect chromosome abnormalities but not sure on heart defect.

    But just remember these people you have seen are all professionals and know what to look out for. Every baby grows differently and that's why they have such big 'normal ranges' try your best not to over think things :) xx




     
  3. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    thanks for your advice. i have looked in to harmony however it costs nearly 500pounds around here which is money i dont have.

    i generally think i am wuite rational but this keeps niggling away at me and i cant seem to shake it off. i spose i just feel like ive seen so many different people. i have not seen the same midwife/sonographer more than once so i get the feeling nobody has looked at bigger picture. i hibestly dont know if im losing ny mind or not.
     
  4. Loubalouba

    Loubalouba Well-Known Member

    Joined:
    Sep 2, 2013
    Messages:
    1,621
    Likes Received:
    0
    I would say go with your instincts x if you feel something is not right then shout about until they listen to you xx fundal measurements are useless and I speak from a very tragic experience where I was measuring above average but baby was no where near the weight he should have been so for me they were very inaccurate and only a scan will tell you how baby is growing. I would request a scan, explain you are anxious and they should do it just to reassure you if nothing else, just explain your reasons. I don't think you are mad I think you are trying to be a mum and look out for your baby, a very good mum indeed :) xx
     
  5. BlondeP

    BlondeP Well-Known Member

    Joined:
    Sep 15, 2011
    Messages:
    908
    Likes Received:
    2
    I'm pretty sure from what I've been told with having a low Papp a count, the only risks of it are smaller and earlier babies. Nothing to do with downs risks, heart defects etc.

    I'm a very anxious person so I do understand you but stop googling and overanalysing as you will come to conclusions that just aren't realistic. If the medical professionals aren't worrying, there is no need for you too xxxxxz
     
  6. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    thanks abi. low Papp is definitely a marker for downs as they use it to calculate your risk of downs. it becomes more significant when combined with other markers.
     
  7. BlondeP

    BlondeP Well-Known Member

    Joined:
    Sep 15, 2011
    Messages:
    908
    Likes Received:
    2
    Well in all of my consultations about my definite low score, not once has downs been mentioned. And my other tests were nearer bad than good. Like I said, if the medical professionals looking after you aren't worried then you shouldn't be. Just focus on brewing the baby as the stress and anxiety you're giving yourself by googling all this won't be helping you. xxxx
     
  8. timtam78

    timtam78 Well-Known Member

    Joined:
    Oct 24, 2011
    Messages:
    4,189
    Likes Received:
    0
    I had the Harmony test last night as I have had a high risk for Down's at 1:24 compared to my 1:10000 2.5 years ago :( Low Papp-A is definitely a factor for Down's but the risk goes up if the HCG and nuchal measurements are off too, plus age. I'm sorry you can't afford the test, it is pricey, will probably be on the NHS in a couple of years, but it would be the only non invasive way to 99.9% rule out Down syndrome. They won't necessarily be able to confirm that via a scan anyway.

    I do think your concerns are valid though and they should definitely arrange another appointment for you even if it is to talk over your concerns.

    It's difficult to trust the professionals when you have google at your finger tips telling you all sorts.
     
  9. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    i called the ante natal department anf ghwy were so understanding anf called me in straight away. they said that i need to be seen as my fundal measurment is quite high and they think it best to rescan to check on heart fluid again and to measure amniotic fluid. if the level of amniotic fluid is found to be high then i will need to consider my position then. i dont want to pay for harmony at the moment if it isnt necessary. im waiting to talk things trhough with consultant xx
     
  10. timtam78

    timtam78 Well-Known Member

    Joined:
    Oct 24, 2011
    Messages:
    4,189
    Likes Received:
    0
    Fab news, hope it goes well and is good news X
     
  11. KateK

    KateK Well-Known Member

    Joined:
    May 12, 2016
    Messages:
    903
    Likes Received:
    0
    That's great, and I completely understand where you're coming from.. It's the fact that these things are going on in isolation, and every separate person you're seeing isn't aware of the other factors. I was in hospital for a bit right at the start of my pregnancy and nothing was put in my notes, it was down to me to explain to my midwife and quite frankly she seemed not to care.. it is frustrating going through different departments and knowing that information isn't being passed on. I am really glad they heard your concerns and are acting on them, I am sure you have nothing to worry about but I completely get why you're freaking out.. Hope it all goes well lovely xx
     
  12. KateK

    KateK Well-Known Member

    Joined:
    May 12, 2016
    Messages:
    903
    Likes Received:
    0
    PS. Good luck with the Harmony timtam xxx
     
  13. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    Yes good luck Timtam, please do keep us updated.

    Thank you all for your advice and reassurances.

    I was scanned yesterday to check for extra fluid. They said that fluid was on the high side but still withing normal range so that seems to be ok. They couldn't explain why I'm measuring so big, the consultant said she could see from looking at me I'm on the bigger side with regards to my bump. I'm not particularly big everywhere else. She said it might be that since my pregnancy is quite soon after my first then I haven't got very strong stomach muscles. great! lol!

    Anyway in doing the scan they measured the baby and informed me that the baby is measuring SMALL!! Not what I was expecting lol. Anyway, they said that when using my customised growth/fundal height chart, the baby is on the 10th centile. She wants to rescan me in two weeks to check on growth and she said if baby is still on 10thcentile or lower in two weeks she will refer me to fetal medicine department for additional checks. ( this is because it may be linked to previous issue where they saw potential fluid around heart, even though that seems to have gone). She said it may just be a smaller baby. She explained that when plotting the size of baby on average growth charts then the baby is right on the 50thcentile, but on the customised chart to me, the baby is only on the 10th.

    When I left I was thinking that the baby would be tiny etc but upon looking at the measurements, the baby doesn't seem small to me at all. It's measuring around 24 weeks, with estimated weight being 1.4lbs, which is slightly above average for the gestation. If the baby follows the same line as they are on currently, they are expected to be around 7lb 7oz at birth, which to me doesn't sound anything to be concerned about. For some reason they have estimated that my baby should be 8lb 9oz at birth. My previous baby was 8lb 1oz. I really don't see why they would think 7lb 7oz would be small for me. Like I said, I'm not particularly big, I'm 5'4. I keep looking at my customised chart and keep thinking they've got it wrong.
     
  14. BunnyN

    BunnyN Well-Known Member

    Joined:
    Jul 14, 2012
    Messages:
    5,310
    Likes Received:
    2
    If it helps my fundal height always measures high. This pregnancy its super high. I do have big babies but MW measured my fundal height being right for 16 weeks when I was only 12. No way baby was measuring 4 weeks ahead at that point. The MW was convinced it was twins! All my scans have all shown one baby and normal fluid levels :). It seems to just be the shape of my body and uterus that make me carry that way plus having several pregnancies close together.
     
  15. princessp

    princessp Well-Known Member

    Joined:
    May 13, 2014
    Messages:
    674
    Likes Received:
    26
    Yes I think that's the same with me. I was measuring big last pregnancy too. I'm girnomous this time lol! I do think it's the shape of my body and the fact I don't have a long torse which makes it worse. people think I'm almost ready to pop! It's embarrassing! Lol.
     
  16. BunnyN

    BunnyN Well-Known Member

    Joined:
    Jul 14, 2012
    Messages:
    5,310
    Likes Received:
    2
    Yeh, I have been getting the "not much longer now" type comments since I was about 22 weeks pregnant, lol. Now I'm 29 weeks and its "oh, so you've not had the baby yet then"! I am tall but have long legs and a short torso so I definitely think that part of it.
     
    #16 BunnyN, Sep 30, 2016
    Last edited: Sep 30, 2016

Share This Page

  1. This site uses cookies to help personalise content, tailor your experience and to keep you logged in if you register.
    By continuing to use this site, you are consenting to our use of cookies.
    Dismiss Notice