Talk

Advanced search

abnormalities at 20wk scan

(38 Posts)
gingerbreadmam Wed 03-Jun-15 13:12:15

hi

i have just had my 20 week scan and we discovered our baby has a few abnormalities.

The one's that arent a huge concern are a slight curve in the spine and two club feet.

The main concern is the right leg has not developed properly plus the fact the baby has all of these things.

everything else including brain heart and kidneys all look normal and healthy.

has anyone has anything similar and what was the outcome? we are having an amnio on tuesday to rule our chromosomal things but the dr did think it wasnt a chromosomal thing.

KittyandTeal Wed 03-Jun-15 16:40:28

Sorry you're going through such a worrying time.

We had some issues (very different to your baby's) picked up at 21 weeks scan. Our dd2 turned out to have trisomy 18. However, my bloods from my 12 weeks tests showed dodgy hormones.

Did you have the 12 week combined test?

gingerbreadmam Wed 03-Jun-15 17:08:35

i had the 12 week test and was very low risk like one in hundreds of thousands.

im googling away iknowiknow and all the deformities on their own dont sound too bad or like they are linked to a trisomy, most are associated with boys and ours is a boy so i dont know if its just one of those things.

ive seen a lot of your posts on other threads whilst ive been digging around kitty you are incredibly helpful and i am so sorry for what you have been through. i had you in mind for after the amnio if we have to make any difficult decissions as you have helpfully offered advice to others in my shoes. i just dont know whether to have the amnio.

gingerbreadmam Wed 03-Jun-15 17:09:39

i had the 12 week test and was very low risk like one in hundreds of thousands.

im googling away iknowiknow and all the deformities on their own dont sound too bad or like they are linked to a trisomy, most are associated with boys and ours is a boy so i dont know if its just one of those things.

ive seen a lot of your posts on other threads whilst ive been digging around kitty you are incredibly helpful and i am so sorry for what you have been through. i had you in mind for after the amnio if we have to make any difficult decissions as you have helpfully offered advice to others in my shoes. i just dont know whether to have the amnio.

KittyandTeal Wed 03-Jun-15 17:25:48

I see.

From what the doc at kings told us blood work is usually the major indicator for trisomies. As I understand it if there was a trisomy your bloods would be a bit off.

If you look at your blood work the Papp a and hcg will have a MoM next to them. The closer to 1 the better as far as I remember.

I imagine that's why your doc isn't too worried about trisomies.

We had a small brain defect picked up at our local hospital, we were sent to kings, they looked at my blood and did an amino straight away.

I'm saying this because I imagine if they had concerns about trisomies I think they might be a bit more urgent about the testing etc.

KittyandTeal Wed 03-Jun-15 17:26:22

I see.

From what the doc at kings told us blood work is usually the major indicator for trisomies. As I understand it if there was a trisomy your bloods would be a bit off.

If you look at your blood work the Papp a and hcg will have a MoM next to them. The closer to 1 the better as far as I remember.

I imagine that's why your doc isn't too worried about trisomies.

We had a small brain defect picked up at our local hospital, we were sent to kings, they looked at my blood and did an amino straight away.

I'm saying this because I imagine if they had concerns about trisomies I think they might be a bit more urgent about the testing etc.

gingerbreadmam Wed 03-Jun-15 17:29:21

they said the first time they could get me in was tuesday and because theyre sent elsewhere for investigation it was better as then they would be back during that week.

i think im going to discuss it when i go back to the hospital on tuesday. i know the abnormalities together are a lot but from that they could see everything else e.g. heart, brain, kidneys were all normal and healthy.

i really appreciate you taking the time to comment i understand it must be quite hard for you. thank you.

boardblonde Wed 03-Jun-15 17:34:58

My daughter has unilateral talipes (or club foot) but it's genetic in our family and is treatable. You may want to join the Happy Feet Talipes group on Facebook as there are parents on there who's children have bilateral club foot as well as other conditions so they may be able to give you more info. All the best x

boardblonde Wed 03-Jun-15 17:36:13

My daughter has unilateral talipes (or club foot) but it's genetic in our family and is treatable. You may want to join the Happy Feet Talipes group on Facebook as there are parents on there who's children have bilateral club foot as well as other conditions so they may be able to give you more info. All the best x

gingerbreadmam Wed 03-Jun-15 17:42:29

thanks board im not actually on facebook. if i know it can occur where a baby has multiple limb abnormalities though that is helpful. i find it reassuring only one leg is affected, however both feet are club but i guess they could get that wrong?

im scared in convincing myself everything will be ok when i could be facing something much worse. i had an mmc befote christmas and spent the first week inbetween scans convincing myself everything was going to be fine.

boardblonde Wed 03-Jun-15 19:35:13

I'm sorry you are going through this. I really hope you get some more information. I've just talked to the Mums on the Facebook group and one had a daughter with a curved spine and club foot. Another has a child with club foot and a lower limb deformity. They don't have any other major problems. There is a great charity for club foot and other lower limb conditions. They can give you help and advice now and after your little one is born. http://www.steps-charity.org.uk

gingerbreadmam Wed 03-Jun-15 19:39:53

oh thank you what a massive help.

i googled the barely existing femur, missing fibular and club feet. they all came up on the steps page. alone they sound like nothing to worry about i think the hospitals concern is that we have all 3.

i can cope with all of the above its of anything else is discovered in further investigations. also the risk of mc from amnio.

thanks for feeding that back to me though i really appreciate it thanks

boardblonde Wed 03-Jun-15 21:34:52

I also meant to mention the Fetal Medicine Centre in Harley street. They do the Harmony test (£500) which is a blood test along with a scan to test for chromosomal issues as an alternative to the amniocentesis but I don't know if it tests for as many conditions. They are a research centre and I know some get referred there from the NHS.

Some other Mums have also mentioned that their children with multiple limb conditions had Spina Bifida or Arthrogryposis.

Really hope it's just the limb conditions for your little bean.

gingerbreadmam Wed 03-Jun-15 21:48:10

they said at the scan it wasnt spina bifida. unfortunately were right in the north east so not sure if can have the harmony test plus ive read on a lot of threads it is a figure rather than a diagnostic and if it was high would still need the amnio.

i guess i will just have to take my chances and hope for the best. such a shit position to be in.

when i go on tuesday for another scan and the amnio i will ask more before proceeding with it as if my screening at 12 weeks was clear it might be unnecessary.

Blu Wed 03-Jun-15 21:57:39

Sorry you are having such a worrying time, gingerbreadman. There's nothing like worry about your baby.

My DS's talipes was discovered at the 20 wk scan along with some other 'soft marker' for trisomies. We had amnio and all was clear, chromosome-wise, but when he was born it was clear that he did have talipes, and missing parts to his foot, and a missing fibula.

I did find the STEPS website very helpful and joined the forums there - it seems quite quiet these days but you only need one informed friendly voice to make a difference.

Talipes - always daunting to see your baby have treatment but the babies adapt and are happy while we have all the stress, and the treatment is very successful.

Missing fibula - DS does just fine. The main issue was that a missing fibula often comes with the leg being shorter, and he has had bone lengthening surgery. Again, daunting while it is going on but also very successful.

A barely there femur sounds potentially more complicated, but I don't have any experience so can't say.

Are you within reach of London? I think you can self refer to the Harris Birthright Trust Foetal Medicine centre at King's, which is a top NHS scanning and research centre. They will be able to give a second opinion in the scan and tests and offer immediate amnio if you want it.

When they found DS's lower limb issues they arranged for me to talk to the Paediatric Orthopaedic Consultant shortly after the scan, and she was very re-assuring and practical.

My DS has a splint and a bit of a shoe raise, is missing bones, toes, half the muscles and tendons he should have in his lower leg... he skateboards, was fell walking and abseiling last week....

boardblonde Wed 03-Jun-15 22:11:13

I can only imagine the turmoil you are going through. I hope it goes ok on Tuesday. x

gingerbreadmam Thu 04-Jun-15 06:34:09

blu thank you so much. that was a lovely read to wake upto.

unfortunately were right at the other end of the country so london is a no go for us.

im glad your son is doing so well and really appreciate you sharing your story. thank you.

Blu Thu 04-Jun-15 08:26:08

We were faced with some pretty confronting decisions - for example whether to go a surgical route to correcting the leg length discrepancy (because otherwise there can be complications throughout the body of being off-kilter long-term) or else a below the knee amputation. Prosthetics these days also offer very very good mobility and avoid the lengthy surgery, but as DS's leg was borderline for being able to be dealt with surgically we took that route. I know other parents who opted for the prosthesis and are also very happy with the decision and outcome.

I suppose what I am saying is that conditions involving limbs can be addressed, by surgery, by adaptations, by adopting a different 'norm'. Look at dance companies such as CanDoCo or theatre companies such as Graeae and their performers that take part in high level ariel work such as at the opening of the Paralympics.

At our 20 wk scan the sonographer said, somewhat clumsily 'your baby will never be a footballer or a dancer' and I lay there with the gel all over my stomach and thought '** that - I know dancers with no legs at all!' (less interest in football grin)

Anyway, I do hope no further complications are discovered to do with blood or trisomies and that all goes well at your next scan.

And do ask your hospital if you can have a chat with the Paediatric orthopaedic consultant.

I was very pleased that I had been able to find out about DS's leg and foot before he was born, and do some research. It meant that once he was born I was able to concentrate 00% on getting to now him without his leg coming as a surprise, unprepared.

gingerbreadmam Thu 04-Jun-15 09:33:57

thanks blu thats really helpful. we have already accepted that the limb may have to be amputated and although im not knowledgeable on these things just seeing all the paralympians etc in the news is enough for me not to have any concerns there.

i worry about the emotional toll of having to watch the child go through the painful parts but think with it being done whilst so young it will be easier.

like you though it is a relief to know now. it is a bit of a shock as you only ever envisage a baby as you are used to seeing them but at least now i have months to accept my son will have a different appearance and prepare for that.

as you say i am just hoping that is all that there is. i keep swinging from thinking the major issues are in the right leg so obv there was just a problem with the right leg to thinking why is there 4 things wrong though?

when we were in the scan they gave us a leaflet about amnio bands and amnio sheets. in the scan they could see a membrane. it wasnt attached to the baby. this makes it sound like an amnio sheet. the feotal medicine dr said this was a red herring but when googling lastnight it seems amnio sheets are quite common when someone has had an erpc which i had to have in december following a complicated mmc and i an just wondering if this is all a connection?

LuckyAugust Thu 04-Jun-15 10:17:30

So sorry you're going through this. We had problems detected at our 12 week scan with our DD which didn't turn out well but hoping it will be a good outcome for you. I live in the North East too and the RVI at Newcastle do harmony testing. We had it when I fell pregnant again. It cost £400 and results came back after 8 days (clear smile ). If you did want to go ahead you can contact the Genetics team- I was under the care of a fantastic consultant who arranged it all for me. Wishing you lots of luck and happiness x

gingerbreadmam Thu 04-Jun-15 10:47:52

thanks lucky so sorry for what happened with your pregnancy.

the strange thing is we had the combined test at 12 weeks and i came back as a 1:200,000 something risk or something like that. basically nowhere near being considered as high risk so i doubt it would be a trisomy?

i would much rather have the harmony but unfortunately we cant afford it which is a shame.

LuckyAugust Thu 04-Jun-15 16:10:05

Will be thinking of you on tuesday thanks thanks thanks x

gaggiagirl Thu 04-Jun-15 16:32:21

Hi gingerbread. Just calling in to offer my support. Hope all goes well on Tuesday.

gingerbreadmam Thu 04-Jun-15 16:37:06

thank you really appreciate it.

been researching away today. if the baby was diagnosed with PFDD i think its referred to (i saw it in the steps charity site) that would explain the femur, missing fibular and clubfoot on the right leg. in 50% of cases where there is a clubfoot both feet will be affected. that makes the outlook seem not so bad e.g. there might actually only be one thing wrong not 3 or 4 like it has been put across to us.

im worrying myself im looking for the best possible outcome and not even considering the worse. hope im not setting myself up for a fall.

Gr33dyeggs Fri 05-Jun-15 19:05:12

gingerbread I just wanted to say I'm sorry you're going through this. I hope you get some answers Tuesday.

Join the discussion

Join the discussion

Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.

Register now