20 weeks and femur measuring short(28 Posts)
Hi Mums and Dads out there,
I'm curious to know if anyone has experienced or is going through a similar hurdle DH and I are going through now.
Last week I had my 20-week scan and while baby's head and abdomen are measuring right on the mark, the midwife performing the scan said that one of baby's femurs was measuring short, while the other one seems to be fine. The information I seem to be seeing online is parents concerned about BOTH femurs measuring shorter. Does anyone know if there is a chance that the one femur can catch-up? The midwife did say that she couldn't be sure of the short measurement as baby wasn't cooperating and she couldn't get a proper view of the left leg, so I'm being referred to the fetal medical consultant who will hopefully provide a better picture for us.
I should note that I've already had a CVS early on due to high NT but the results, including a fetal echo, all came back clear for any chromosomal or heart issues, which we are very happy about! Nonetheless, it hasn't been a straightforward pregnancy thus far...
Thanks in advance for any advice/insight!
Hi there, I felt I had to respond to your post as I experienced similar, at my 20 week scan the Sonographer noticed one femur shorter than the other, we were lucky to get a same day appointment with the specialist and he agreed it looked like an isolated short femur. Pregnancy was very stressful and often there appeared to be problems at scans but all resolved and baby was induced at 35 weeks due to lack of fluid. Baby was born healthy, she had an isolated short femur (Proximal Femoral Focal Deficiency or Congenital Short Femur are the medical terms) it is a very rare condition and as you said the Sonographer may have made a mistake but please be reassured that our little girl is almost two she hit all her milestones including walking independently just after a year old. Please feel free to PM me or reply on here if you would like to know anything else. Also if it is isolated short femur then it is not genetic and not connected to any chromosomal issues etc xxxx
Sorry should say her difference at 20 weeks was about 1cm and at birth around 2cms now she's almost 2 it's about 5.5cms and that difference will continue to grow. She will hopefully be able to have leg lengthening surgery in a few years and at the moment wears super cute raised shoes (at the moment she has raised converse )
Thank you so much for your encouraging words and it's so great to know that your daughter is living what seems to be a full, independent and happy life, despite her shorter femur - and she must be a little fashionista in her Converse!
Our girl's left femur is measuring around 1cm smaller than the right (which is measuring 3cm), so similar situation as yours. I haven't found any information about femurs catching up - do you know if it is possible?
It has been the longest week having to wait for my ultrasound tomorrow, which should hopefully shed some more light on our little girl. I can't help but scour the internet for clues and ideas of what to expect, but I know I just have to wait and see. Fingers crossed.
I had this at my 20 week scan. My son too had PFFD although in a very severe form it seems. He was missing a fibula, had two club feet and scoliosis. His knee joint was fixed too.
Even with all that, the hospital were very positive about his issues and assured us he would lead a normal life. Amnio ruled out any other conditions.
Steps is a great website for getting more information. Sadly pffd is so rare a lot of medical staff are unaware of it. I had to inform our hospital of the condition after doing some research on google.
it sounds like your daughter has a mild case which is even better.
Nelly - she certainly does lead a full and normal life with a little leg, for PFFD a 30% shortening is considered moderate and is very much borderline as to the treatment options - that said we found X-rays to show slightly less difference compared to pregnancy scans (so in pregnancy our daughters was 35% smaller and 'in real life' it's 29%) if I am totally honest I don't think I've read about isolated shortening catching up - but that said I'm not a medical professional.
do you know when your appointment with the specialist will be? We declined the amnio and our specialist did say if it was his wife carrying the baby he would decline amnio because isolated bone problems will basically never show -abnormalities on an amnio. You can ask to be referred to an orthopaedic specialist so they can discuss the shortening with you during pregnancy. That is what we did and was very helpful and reassuring, but I would research specialists who treat the condition (of the top of my head they are based in Bristol, Leicester, Great Ormond Street, Sheffield and a few others I can't remember off the top of my head!)
I am going to private message you and send the link to our PFFD awareness page on Facebook if that's okay?
Gingerbreadmam I remember talking to you when you were pregnant with your little boy - I hope you are well? I agree that Steps is a good website to look on for information! X
Hi gizmo i almost put in my post it was lovely to see you and i'm glad your little girl is doing so well.
i'm good thank you.
Just to add, i have not read anything about bones catching up either and i have researched and researched.
Asking to see a specialist will be good and the outlook is really positive.
Gingerbreadmam - Oh wow, it just shows how resilient we are as humans, aren't we? It's amazing what advancements have been done in the medical field in general that I am confident that we will be able to tackle anything with our little one. I've had nothing but positive experiences so far with York General.
Thanks to you both for referring me to Steps and the awareness back on Facebook!
Gizmo, I have my referral scan tomorrow, so not much longer to wait. I spoke to my midwife a little while ago and she was reassuring that I was in very capable hands and gave me some tips like jotting down all my questions beforehand. Due to my NT showing high early on, I actually had a CVS test at around 16 week and was cleared of all chromosomal and heart defects already. I'm sure I'll be referred to some more genetic/blood testing tomorrow if that's the route we decide to go down. But like you say, physical abnormalities don't generally pick up on amnios anyway. And if it is PFFD, I'm happy Sheffield is not far from us should we get referred
Again, thank you both for sharing your positivity - it's definitely brushing off on me I will keep you posted on the outcome tomorrow! xx
just to let you know nelly pffd is not a genetic condition so they may not bother going down those routes.
It is something that is very rare and just happens, they dont even really know what causes it but have some theories.
I love York, not the hospital but the place ha. i'm sure you will be in great hands.
good luck tomorrow, on the plus side you should get some extra looks at your baby girl and they may even do 3d / 4d scans to get a better look.
I am positive with the benefit of hindsight! When I was pregnant I was absolutely devestated and extremely anxious but now she is here I go for days and days with barely thinking about it probably because she manages so well.
HI Gizmo2206 and Gingerbreadmam,
I just wanted to write you both a quick note to update you on my appointment this afternoon. Unfortunately, it wasn't the news that DH and I wanted to hear as it seems to be worse than expected. Baby's femur is not only measuring short at 16 weeks (I'm 21 weeks this week), so is the lower part of her leg and to top that off she seems to be suffering from severe clubfoot to the point that her foot has completely turned back onto the tibia. The consultant still doesn't have an idea what could have happened, but at this point the entire lower part of her leg is not moving . We are completely heartbroken and are feeling a bit lost with what to do next. We are meeting with our consultant again to discuss our options.
I am really sorry to hear that the appointment didn't go as you had hoped I was thinking about you today. You must be feeling very confused about what this all means. My little girl was born with positional talipes (club foot) and I think this can be quite common with PFFD, the same with the lower leg being small - I think Tibial Hemilia (spelling I'm unsure) can go hand in hand with PFFD if that is what your baby does have. My little girls talipes didn't show up on the scans but I don't know how much they looked at her feet. Have you tried to call ARC? They were able to calm me down and talk to me about what the tests may mean (although tbh my advisor did say she had never dealt with an isolated limb condition previously so could offer too much advice).
Did the specialist offer any opinion as to why her leg wasn't moving? i desperately wish you had received the all clear today rather than more worrying news. What is your next steps? Xx
nelly this sounds very similar to my sons case. it is still pffd.
i'm so sorry you are going through this i know it is very tough. I kept on telling myself it is just a leg.
Our outlook was that our son would have had an above the knee amputation and a prosthetic fitted. im not sure if that would be the case for you but in that scenario they would still lead a normal life.
I hope you are managing ok. i remember what a tough and upsetting time it was.
my sons leg was fixed at the knee and bent. it mived from the hip but not the knee so it didnt straighten or bend it was stuck in one position.
Thanks ladies. The consultant said it could be a number of possibilities: a) that at some point in my pregnancy part of her leg broke and thus doesn't have the ability to move (since her ligaments may not have been fully formed), b) tissue from my placenta or somewhere else managed to fuse itself between the tibia and the femur (the leg isn't moving at all, not even the femur) or c) a possible nerve problem in the back, however since the rest of the body is moving it seems to be an isolated deformity but as it is so early, it's hard to tell and hard to know what other things might come about later on.
Honestly speaking, DH and I have been in bits since yesterday and are very scared of the prospect of not having all the information we need ahead of baby being born. It could be a case of PFFD, but it could also be something else that hasn't been discovered yet. As first time parents, it's a very scary thing to have to commit to and unfortunately none of our parents are in the UK, so family support is sparse - I don't know how we would cope. All we know is if we bring this baby into the world, we want the best for her and for her to live a happy and independent life and right now we have no guarantees.
And yes, I've heard of ARC. I will definitely ring them if I need any extra support or advice, even if it is neutral. DH has been so amazing and we are very conscious of one another's feelings right now more than ever <3
Get in touch with STEPS. They are amazingly reassuring and will be able to put you in touch with the best consultants to see after your little girl is born. Talking to the right people now and getting everything lined up for post birth is something you can focus on.
My only experience is with talipes so I have an inkling of how that scan result can rock your world. Lots of love.
I'm sorry you've had this news. It's not easy to come to terms with such a lot of information. If it's any comfort, DD1 was born with a brain malformation that has given her learning difficulties and some physical challenges. She is aware of her limitations, but somehow having been as she is since birth gives her a peace with it and she can often be heard remarking 'and anyway, it's not my fault I <insert latest easily avoidable calamity she is involved in>, because my brain is wonky, and that's just the way I was born <shrugs shoulders>. Children have a remarkable resilience.
I hope you get all the support you need over the next few weeks so you can make really informed decisions. Can the team let you speak to someone about what treatment might be needed for you baby if you go ahead with your pregnancy? Presumably you'd need to be seen by orthopaedic specialists?
there are lots of variations on pffd it is worth exploring as its certainly not a life threatening or limiting condition.
i understand your stance though. it was also my first child following an mmc and i wanted him so desperately but i felt so conflicted as to whether it was right to carry on or not and what his quality of life would be.
We have another consultation at the hospital next Wednesday which will include another scan to see how DD has progressed. In the meantime he said he would consult his team of doctors and an orthopaedic surgeon just for some general information on timelines. Should we decide to continue on, we were told we would be put in touch with a team of specialists at Sheffield Children's Hospital to form a plan. Again, we are so torn on whether to continue in the first place as we were told that there was no certainly of the root cause of the issue. I think I forgot to mention that there doesn't seem to be any blood circulation on the tibia and my first concern is whether that has any impact on the rest of her body that we don't know of yet, if it could affect the nerves in the rest of her leg/body... all questions I intend to ask on Wednesday.
Gingerbreadmam, I can relate as this is my second pregnancy after suffering an early miscarriage in the summer. That was tough but we were thrilled that we got pregnant fairly quickly after, only to be confronted with a very stressful experience again. DH and I are the type of people that don't like to gamble on things generally and the only point we will decide to continue is if we are assured that it is an isolated physical deformity and doesn't have the chance of affecting her in any other way later in life. A tall order to ask for a baby that is only 21 weeks!
I do have to say that I have a whole new level of respect to all parents who decide to keep a child despite the prospect of a long road ahead. I just don't know if I have it in me
nelly i felt exactly the same. i felt like i wanted my son for selfish reasons. because i wanted a baby. it was a vicious circle of wondering if i was doing the right thing to convincing myself it was just a leg and no big deal.
once you have met with the consultants you may feel like you have better knowledge. as far as im aware there were no blood flow issues with my son.
have they suggested and amnio and would you be willing to have one?
im sorry for your previous loss.
Good luck with your appointment today, I've been thinking of you. What a worrying time for you but hopefully you will feel like you know more after today
How is it going now ? My son had short femurs in my pregnancy and a few other soft markers . I hope you get some good advice .
Hi imjessie, thanks for checking-in. We've since had two scans and our consultant is sure that is an isolated short femur and no other soft markers detected (i.e. no sign of hip dysplasia or any chromosomal problems). We will be going back for regular growth scans and have been referred to an orthopaedic surgeon to discuss things in detail. A glimmer of hope is that we saw DD's leg moving about freely and so the possibility of a nerve issue is out of the question and apparently the tibia/fibula are measuring fine
DH and I have decided, after much heartache and deliberation that we want to keep her and are willing to do anything to make her life as 'normal' as possible after she is born. Doctors have said that besides her leg, the prognosis is excellent. It will undoubtedly be a tough few months ahead before we see her but we're just trying to stay positive and have decided to cross each bridge when we get to it.
I can't thank you all enough for all your support and kind words over the last few weeks! xx
Join the discussion
Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.Register now
Already registered with Mumsnet? Log in to leave your comment or alternatively, sign in with Facebook or Google.
Please login first.