undiagnosed abnormality on ultrasounds?

Question

hi, i have a 3 month old daughter who has radial aplasia which basically means that the one of the bones in her forearm didn't grow and she has only 6 fingers in total and no thumbs. her right arm is really short and the elbow is fixed. i had both nhs ultrasounds and a 4d scan at 30 weeks none of which picked up this abnormality which is pretty obvious! i was even told she had 10 fingers and toes by the radiographer so it was a complete shock when she was born and then we were told she could have all manner of syndromes, vater association, heart defects, blood disorders and kidney damage. luckily she hasn't but the testing was very stressful. has anyone else had this type of experience or has a child with radial aplasia who could give advice on what i should be asking for in terms of support and help from the medical profession or could tell me how their child adapts. thanks

Answer 1

Hi,
Congratulations on the new baby. I’m sure you love her no matter what. Ultrasounds and scans are not that reliable, they could have seen the same hand twice and told you that it was both hands. Babies move so much it’s and it’s hard to figure out what is where on these pictures. For a few month we thought that out baby only has one hand because on every ultrasound and even a 4-d scan there was only one hand visible. When I told my OB about the concern he spent 30 minutes pocking my stomach and forcing the baby to move so that we could see that she does in fact has 2 hands, she was always hiding the other one behind her head she does that to this day.
I don’t have any experience with radial aplasia but searched online and found few forums and groups that might be able to better answer your questions and point you in the right direction regarding medical help
Good luck and God bless you and your bundle of joy.
http://www.tefvater.org/cgi-bin/board/board.cgi
http://www.rarediseases.org/
http://www.vacterl-association.org.uk/medical_database/radial_aplasia.htm
http://www.limblength.com/pubs/articles/radial/radial.htm

Answer 2

Wow what a shock for you. Its never easy when you have been lead to beleive that everything is fine and then have complications after the birth. My little 4 week old neice has a large lump on her arm which is caused by the muscle growing outside of the skin which wasnt detected either.

I know that it wont cure your little one but I would seek some legal advice about the non detection of the syndrome on the scan. Especially with the fact that you were told she has10 finger and toes.. I mean what is the point of having a scan if things like this are not gonna be picked up!

Answer 3

I dont have any real info on this but one of my friends has a daughter with one thumb and nine fingers. She has a thumb and four fingers on one hand and five fingers on the other. What would be the thumb looks like a pinky and she doesnt have that bone near her palm that gives us opposing thumbs. Her daughter adapted with that though. She holds a pencil a little differently (shes right handed and thats the hand that has the abnormality) but shes gotten used to it. They are looking into surgery now to fix it though (shes 5) because they believe that the surgery will help her in the future. I think so too because although she has adapted to writing she cant hold a cup with her right hand very well.

Answer 4

hi,
my mums best friend has a daughter who has a short right arm, it is only a very small stump with three fingers and is genetic. she also has only 3 fingers on her left hand but she copes so well and has found ways to adapt to her situation as i'm sure your daughter will too. its good she has nothing else wrong with her and i'm sure you and your partner will be amazing parents to her. it will probably be difficult for her with no thumbs but pysiotherapists and occupational therapists will help her cope
.
i know what you mean about the NHS scanning. i was told i was only having twin boys but when i was just about to give birth they told me it was actually triplets! that was a hell of a shock!

however try these websites
http://www.rarediseases.org/
http://www.tefvater.org/radialdir/aplasia.html
http://www.gpnotebook.co.uk/cache/-1570045901.htm
http://www.limblength.com/pubs/articles/radial/radial.htm
http://www.medcyclopaedia.com/library/topics/volume_vii/r/radial_dysplasia.aspx

hope this helps
best of luck with the baby
xx

Answer 5

thank you blessing you have her... my friend only 2 weeks ago lost her baby 33 weeks, went to the doctor cos she felt something was wrong nd told nothing to worry about and baby died that night :-( think she would have been happy with a daughter like yours....
another friend got sent home when her waters had broke and told not to come in until she was in full labour she went home range them everyday for 3 days they kept telling her to stay at home till full labour baby died

I think NHS is rubbish and if i because pregnant again im either going private or leaving this country!!!
My friend is suiing and i think that maybe you should get a layer and think about doing the same. Its clear on them scans the fingers and toes how could they get it wrong?
I feel sorry for you as you would have had time to research what is going on.


Oh and another friend was told by the hospital to abort her baby girl because she would have a terriable life, disfurgment server brain disibilities and guess what she is the brightest" NORMAL" girl you could emagin. Nothing wrong with her all!!! thank god she kept her!!!

I wish you all the best and good luck in what ever rout you take.

God bless your family

Answer 6

Ultra sounds cannot pick up every problem. They may have thought her arm was tucked underneath her, or her fingers were curled up. Yahoo groups might have a support group for things like this. I would start there. I found a support group on there after I lost my baby girl last year.