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Talipes/Amnio/MRI/Chromosomal Issues: positive message

(18 Posts)
Leo4 Sat 27-Aug-11 11:18:24

I wrote a post back in may about the decision I had to make on whether to have an amnio or not. I've had a bit of a rollercoaster ride since then and I want to share my story in the hope that people do not go through the stress I have and also to show that even after so much stress there can be a positive end to the story. My original situation was that I tested extremely low risk for downs, Edwards and pataus symdrome. All over 1:20000! Then at 17 weeks roughly I found out my baby had bilateral talipes that were very clear on ultrasound. I was told it could be Isolated but that it could also signify something much worse such as Edwards syndrome. I was offered an amnio before 22 weeks but I declined due to the risk of miscarriage being very high. I then went to a private consultant to see if he thought the amnio was necessary in my case and he scanned me thoroughly. He said as he found no other markers and my low risk after nuchal and triple blood that it was extremely unlikely that my baby had Edwards. He also said that talipes can signify many things but that nhs hospitals like to link everything to a chromosomal disorder and also that they use patients as cannon fodder for their research, especially encouraging amnios ( which are usually done by students ). I don't know how much of that is true but I felt as though they were covering there backs rather than thinking of my feelings. I also felt as though I had now become a statistic as they wanted to keep an eye on me by scanning me every two weeks to see my progress and final outcome. Well I was scanned every two weeks and everything other than the talipes was perfect including growth, brain and heart, but I still felt like everytime they scanned me they were disappointed they didn't find anything wrong with the baby. Then at 28 weeks, my situation became very stressful once more. They discovered I had polyhydramnios (extreme amniotic fluid levels), the baby had borderline right sided ventricularmegaly 10 mm ( slightly more fluid than should be) and the baby was bigger for dates. I was sent for tests for gestational diabetes ( which can cause quite a few problems in baby) due to the excess amniotic fluid and the fact baby was larger, an MRI scan to check no blockages or bleeds in brain, parvovirus and torch screening to see if a virus could be a cause for the fluid in brain ventricle, an amnio to check for chromosomal disorders and tests for muscular dystrophy to see if that was causing the talipes and excess amniotic fluid. You can imagine the stress I felt so I agreed to all the tests as I hoped it would put an end to it. I had the GDD test, parvo and torch screens straight away, which all came back fine. I couldn't have amnio or MRI or muscular dystrophy tests until 32 weeks and they were extremely hard decisions to make as the harm they could cause the baby. The results for the MRI came back normal and they said the fluid on brain was more likely to be a normal variant due to size of baby. The amnio came back clear so my baby doesn't have Edwards, downs or pataus. I'm still awaiting the MD results but I am positive they will be ok. I will let mums net know as soon as I know. So it seems all my baby has is talipes after all that worry. I can finally enjoy the last few weeks of my pregnancy and hopefully it won't put me off becoming pregnant again. I cannot tell you how it has made me feel but I honestly feel I have been used for the hospitals benefit. I hope noone has to go through what I have and I hope I have given someone help in making decisions. Put it this way talipes doesn't always mean the worst.

loralou Sat 27-Aug-11 12:47:28

leo I have been through a similar experience except the first sign of a problem was 10.1mm of ventricularmegaly and when i was sent for a more detailed scan a heart defect was uncovered. i was too offered an amnio which i declined due to the miscarriage risk also and waited untill 34 weeks. i decided to have the amino due to an illness that is linked to one chromosome disorder that may affect delivery etc. Untill the amino was performed I felt under pressure to ecplain why i had a n amino at every appointment and scan i had (of which there was many). i felt stressed and had illness form this as i felt i had to constantly defend my postion. my reason for not having an amnio was the percentage of abnormality was not that high and did not balance the risk of miscarriage IMO. Also i wouldnt have terminated for the disorders they explained. So i have had a namino and had an inital clear Fish result but alos felt so medics wante dthe results to help them rather than me .

Leo4 Sat 27-Aug-11 13:31:38

That's exactly why I didn't have the amnio in first place! I had the amnio eventually to stop the stress they were causing by throwing chromosomal disorders at me every 5 mins and also to prepare myself in case the baby did have a disorder! They seemed so pleased when i finally gave in and they even took two viles of fluid instead of one to test for as much as they could!! And they are saying its for my benefit yer right!! The stress has caused me to have high blood pressure but I'm lucky not to have more problems from it tbh! I am so angry and I'm worried about getting pregnant again and thinking that if I do I will only have minimal scans!! But my main reason I posted was to give people positive news that even if scans show abnormalities it doesn't necessarily mean there is something seriously wrong.

loralou Sat 27-Aug-11 15:10:41

it s too much pressure when your already hormonal and confused. i know sometimes doctors think its for the best but its still a personal choice and some doctors dont even let you know you can delay it untll 30+ weeks to stop miscarriages. ive read of other people not being told this luckily i had a great specialist who supported me and fully informed me. i had two soft markers and a 1 in25 chance of some type of disorder but i was given the inital all clear. i waited 12 weeks for my amino and im glad it was hard at times when my decision was questions but overall because i was very firm in my descision and the way i put across i think i was not pressure as much as someone who was undecided. i just thank god i asked for all the info and am not someone who is easily led or influenced.

Leo4 Sat 27-Aug-11 23:13:08

Why was your risk that high iv got two soft markers and my risk has never been that high? And I def hav a strong head in my shoulders I like knowing what I'm getting in to and won't do it unless iv made the decision myself. I was very sure I wanted my consultant to do the amnio as well and they still tried to make me have it done by a student but I know the amnio is only as gd as the person doing it. I don't think it matters how strong u are they still try and do it their way xx

loralou Sun 28-Aug-11 00:13:10

It was the type of soft markers which were the enlarged vessels in the head and the type of heart defect. I was told a 4% chance or 1 in25 depending on how i looked at it. i was given the odds on the combined risks of it being both so for example down syndrome and x syndrome (wont mention second one as it quite rare more so than down syndrome and i dont wont to out myself inRL) the x syndrome is known for heart defects that matched babys. What i meant by strong is being consistant wit them and not showing any doubt in your decision because they notice and put more pressure on. Luckily all the specialist and most of the people i spoke to were ok with my decision and i made sure they knew it wasnt goign to change! although 1 person did say why have it that late you cant do anything then, so i explained that it was a much wanted baby. on the other hand a couple have people have said why bother at all and i explained could cause problems after birth

Leo4 Sun 28-Aug-11 11:22:07

O so your baby has bilateral ventricularmegaly rather than unilateral... That might explain it... Although I was told after i had my amnio by a private consultant that ventricularmegaly was only to be considered a marker at an amount greater than 13mm but again I dont know how true that is...Yea ok I know what you mean it's fine that you don't want me to know the specifics... Are you still awaiting the results of this disorder?? It's horrible waiting isn't it the MD tests seem to be taking forever. My dp asked me why I wantesmd the amnio so latr and I just said it was to prepare myself for the difficulties we may face after birth and he accepted that straight away.. And so have everyone else.. I was never going to abort so an early amnio was never an option ... When are you due btw?

loralou Sun 28-Aug-11 13:18:28

he had ventricularmegaly at 10.1mm and the hospital cutoff is 10 the biggest marker was the heart and that it directly corresponds with x syndrome. so with both it was a high chance. Btw the venticularmegaly reduced and is at a normal level, but as he already had it its still a marker. Im due to four weeks and have had downs and x syndrome results back and they were negative, so just waiting for full karotyping but they dont expect to find anything! how long for your final results? mine should be done next week as its been two weeks

Leo4 Sun 28-Aug-11 16:08:16

Yes that is exactly what happened with my baby the fluid has been absorbed again, so it is now 8mm and it was only in 1 side anyway. The muscular dystrophy results should be ready next week as it was up to 4 weeks wait for them.

loralou Mon 29-Aug-11 10:56:16

well good luck!!

Leo4 Mon 29-Aug-11 11:00:20

You too!

Flowerydems Wed 07-Sep-11 15:15:11

I'm so glad I read this, I've been feeling a bit worried as I declined the amnio they kind of tried to scare me into.

Our situation was we had bilateral talipes diagnosed and they said everything else was ok, but we needed to get re-scanned at the city hospital so we went, were put into a small room to the side to wait for our scan then someone came through with paperwork about the amnio they were going to give me that day. I started to hyperventilate a lot cause absolutely nothing had been discussed with me before this (and it's actually upsetting me again just thinking about it) and it really scared me but I declined it on the grounds that nothing else seemed to be wrong. All other measurements were perfect, the spine was fine etc and my nuchal results came back as 1 in 50 odd thousand. I've got another scan coming up next week but I'm just getting so worried that I made the wrong decision in not having the amnio just cause they were so keen on me having one, I think at 32 weeks though there's really no point even stressing about it is there?

Sorry have maybe hijacked your thread but thank you so much for posting it cause it's really helped me realise that they're pretty determined about these things so it wasn't just me who they tried to scare into something.

Leo4 Wed 07-Sep-11 16:39:07

The amnio did set my mind at rest..I must be honest! But it has been in the back of my mind the whole time that there is nothing wrong with my baby....and they just wanted me to have it done for research purposes! I think its a veyr personal decision but I don't think I would have amnio at 32 weeks again..because I wouldn't abort in any case...and kind of feel like I've given in ...when I never wanted one!

No don't be silly I put it on here to help others..I'm glad if I can be some help! good luck! smile xx

MyangelAva Wed 07-Sep-11 19:29:27

Hello Leo, I'm sorry to hear that you were pressured into having an amnio- that really isn't the right thing for medical professionals to be doing.Surely they should provide impartial information and advice for such a procedure? I just wanted to share my story from another viewpoint, not to scare, but to balance things out for those who may be reading this and making important decisions.

I had an amnio in my last pregnancy at 26 weeks and was lucky in that the professionals advising me did not place any pressure on me. To set the scene; I had been given great odds at my 12 week Nuchal scan (including a 1:190000 risk of T18 Edwards Syndrome, which is fatal). However, at my anomaly rescan it was discovered that the baby was small for dates. I was to be scanned a fortnight later, when they found out that the baby had a leaky heart valve. Aside from this the baby looked normal. The 2 pieces information together may have suggested a chromosomal abnormality and I was offered an amnio. I had thought of declining this and in fact even though I agreed in the end I never in a million years believed that it would show anything major as I had had such great odds at my 12 week scan. 3 days later I discovered my precious baby girl had Edwards Syndrome and we felt as though we had no option but to terminate (because of the severity of the condition). For the record, you can terminate a pregnancy post 24 weeks if the baby has a severe/ fatal medical condition.

I just wanted to add that I never thought I would terminate until I got that news, and that I feel lucky that I found this information out at 26 weeks and not when she was born 13 weeks or so later. As I would have been left with a nursery full of pink as well as the sheer grief that overwhelmed me as I left the hospital without her.

As I said, it should be everyone's right to choose, based on facts and specific circumstances and I dont want to scare anyone- every case is different and I've read many happy stories to come from this area of Mumsnet, with higher risk factors and more soft markers than my Ava had. I just thought that someone may be interested in my story and that it may provide a bit of balance.

I would also like to add that I am now 20 weeks pregnant with my 3rd child and have been for as many screening and scans etc as possible to try and avoid an amnio!

I wish everyone the best of luck x

Leo4 Wed 07-Sep-11 22:06:04

Yes you posted on my last thread when I was thinking about having an amnio at 20 weeks because chance of T18.....and your advice did help me to decide against it at that point! so thanks xx

loralou Sat 10-Sep-11 18:32:48

MyangelAva sorry to hear about your story, but i would have made the same choice as you i think if Edwards had been the most suspected disorder but all my consultant said this was very unlikely. I would have also had the amino for plateau as this is also fatal. Ps hope you have a good and enjoyablke pregnancy

flowerydems Hope every thing works out how you want!

Leo4 Fri 16-Sep-11 01:30:40

Just to let everyone know...full karyotype and muscular dystrophy results all came back fine.. smile so happy now...only 2 weeks 5 days left! smile

loralou Fri 16-Sep-11 14:00:42

Leo4 so glad to hear your good news!

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