Short femur & missing fibula bone on ultrasound

[mama2twospecialboys20and21]

hello everyone. I just wondered if anyone has been through the same thing, in my 20 week scan they said everything was perfect apart from fumer bone measuring at 8th percentile , so asked me to come back in 4 weeks to measure again, when I came back she said it’s now at 3rd percentile, so she booked me in to have an ultrasound with fetal medicine the next week, in that ultrasound appointment they said that they can’t see one bone in the femur, likely to be the fibula, and that both femurs are measuring short and one humerus is also measuring short, they asked me to come back for another scan in 3 weeks to see a geneticist and take it from there, I’ve been googling and have come across loads of different syndromes etc, I’m so stressed out and worried , especially because I also have a high needs autistic son.

thank you

I havnt been through the same thing but didn't want to read and run. I'm not surprised your stressed and worried. Do you have any family who can support you?

Yes I have my mum and husband.

I would request an NIPT asap. Tell them the 3 week wait is causing stress on you and you need answers sooner than that

They offered me a test and I declined, for me it wouldn’t make a difference if it was positive or negative as I wouldn’t terminate.

That's absolutely your choice OP but would it hurt to do the NIPT anyway, just so that you are informed and have time to consider the results. I feel that it would help prepare you rather than being stressed out guessing.

the professor came in to double check, she is the one who told me what they found, she said she doesn’t think it’s down syndrome or dwarfism, she said she thinks it’s either just something the baby will be born with and it will not affect his life or it could be related to a syndrome, I’m so confused, because it took the dr over an hour to even see that something was supposedly not right before she called in the professor for a 2nd opinion, and I had 3 scans before that , that never showed any bone missing, just saying that the femur is measuring short, I just hope they have made a mistake.

Hi OP. Sorry this is long but hopefully helpful?

I have a 3 month old son who from 29 weeks had femurs measuring short. He is absolutely fine, with legs in proportion to the rest of his body. He is now measuring on the 75th percentile for height and weight, when during pregnancy he was on the 10th, then the 3rd and then the 9th. At the 20 week scan, his femurs were on the 25th percentile. So there is a slight difference and we didn't have anything in regards to a missing bone.

One thing to say is that ultrasound scans are the most informed way that doctors can check on baby, but are not 100% correct. We were routinely told how challenging it is to measure things 100% correctly, given the fact that things are so small, and being measured through your tummy. We were also told that boys commonly have femurs measuring short. DS's femurs may be slightly shorter, I don't really know, but proportionate to friends babies you wouldn't tell a difference and my family have long torsos and shorter legs!

The scans definitely caused me significant distress and I would say the last 10 weeks of my pregnancy were incredibly challenging given the anticipation and the fact that we didn't meet the threshold for NIPT. I would not have terminated my baby either, but I do think the NIPT test would have helped me put my mind at ease and understand how best to accommodate little man before he arrived, if he needed any help or assistance. This is a decision you can only make yourself, so sending you big hugs for that.

ultimately, his presumed short femurs affected his overall estimated birth weight. This led the doctors to suggest I have an induction at 38weeks and 4 days, which ultimately led to an emergency c section. Baby was totally fine, luckily, but it was touch and go for a while due to cord complications. If I were to have another baby with short femurs, I would decline an induction. This isn't to say you should in your circumstances, but I thought it might be helpful to let you know so that you can prepare for what may happen.

I can't promise that this will be your story, but I just want to stand in solidarity with you and the fear the scans can cause. At our 20 week scan, we were referred to fetal cardiology for a suspected heart defect. No such defect was found on that more intense scan. The waiting caused significant panic and distress and I completely understand where you are coming from.

I have everything crossed for you, and wish you and your family all the best. X

Thank you so much for your reply. I just hope and pray that they have made a mistake and my boy will be born healthy. But I can’t help but panic and fear the worst.

thank you

Of course, that's because you are a mum, and from your first post are already coping with so much! at this stage, the femur measurements are millimeters difference between the 50th and the 3rd. It's really challenging to hear, but babies are not uniform and don't grow in the exact same way. Fingers crossed for you and bubs x

What?

My DGS had very short femurs (3rd centile I think)
And a whopping big head and big tummy on the ultrasounds.
He pitched up at 8lb in weight..with a big head and short legs. We joked he was a hobbit.
He's 4 now and absolutely fine... he's grown into his head, his tummy is normal and he looks in proportion. He is short ( 1st centile) but absolutely fine.

thats lovely to hear, thank you

@mama2twospecialboys20and21How are things going for you? Xx

@mama2twospecialboys20and21I also hope things are going well for you. Regarding the NIPT, whilst I realise that ship’s probably sailed for you and the short femurs/potential missing bone are unlikely to have come about from the three trisomies the NIPT tests for, I think I’d still recommend the test for people who are worried, due to age, medical history etc. It absolutely isn’t a commitment to terminate if it comes back positive. My first daughter was born with Down’s syndrome (after coming back with a 1 in 1,900 test in the combined test), and I can say after that experience I’d never want another postnatal diagnosis, so I requested the NIPT in both subsequent pregnancies so that if anything did come up I’d be prepared and it wouldn’t spoil the first day of my baby’s life…

Hi, thank you so much for asking about me.
im currently 35 weeks pregnant, baby is doing well, they still are saying that they can’t see the fibula bone on one of his legs, I had an appointment with an orthopaedic surgeon and a geneticist , they both say that it might be some sort of skeletal displaysia , but they are not sure yet until the baby is born, also the baby is measuring on the 7th percentile for weight, so they want me to have the baby by 38 weeks in case the placenta is not working well, so yeah that’s my update so far, I hope I can come back here in a few weeks and update and say everything turned out fine in the end.

Yes I totally agree with you

Wishing you all the best for the next few weeks. Keep in touch xx

Any news OP? You must be nearly due! Sending you all the best xx

I hope all is going well for you and good luck with the delivery. Sending good vibes to you. X

Good morning ladies, thank you so much for asking about me, I had him yesterday at 5pm at 37 weeks 0 days. last week I went for my last 8th scan and they said that he hasn’t grown and he has IUGR and he’s on 2nd percentile for weight, so they were very concerned and told me I had to have a section by 37weeks , I agreed and he was born yesterday, I had a lovely gentle c section, he was perfect, just like my other boys, they estimated he would be 2kg and he was 2.5kg, so far the doctors have checked him and said that he looks normal, he’s just tiny, and he’s on the 9th percentile not 2nd , he’s so cute bless him and I’m in love and I’m in that newborn bubble, he’s latched on well and is sleeping and waking for feeds bless him, he’s going to be checked over today by the doctors again and hopefully if everything is good we will make our way home this evening, they have told me that the children’s orthopaedic team would like to see him in 4 weeks and will make a decision on whether they think that he needs to have X-rays or not.
everything went well in my section and I have had no problems so far.

thank you so much for asking about me, i really appreciate it. I really hope someone that reads this and is going through the same thing as me gets some comfort.

xxxx

Congratulations OP 💕💕💕💕

Congratulations OP, glad he’s here and doing well.

Not sure how true this is but a doctor once told me that something like 1 in 20,000 people don’t have fibulas. They were thinking about surgically removing one of mine and said they’re not a necessary bone and don’t have any impact on walking. Certainly one of mine was in about 50 pieces at one point and I could walk ok.

Congratulations Op on your new son 💐

Congratulations, OP!

Enjoy your little man 🥰