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Original poster

Appointment with a geneticist after amnio at King's FMU - what to expect (short femur and humerus)

9 replies

Beartato · 13/06/2024 11:59

Hi all,

This is my first pregnancy and I'm really scared right now. During anomaly scan at 20 weeks the femur was measuring at around 11% but they decided they're not concerned and I had a low risk of any trisomy anomalies when I did the blood test.

Fast forward to 28 weeks I went in once to the hospital for reduced movements and had a scan where they noticed the femur and humerus were below 5%. No other marking suggesting anything but a small baby but they warned me there is a risk of skeletal dysplasia and referred me to the fetal medicine unit at King's.

Although the long bones are short (confirmed with multiple scans but growing) they reassured me that it's most likely a small baby but they offered to have the amnio test which I eventually decided to do at 35 weeks as they said that if something is wrong then it will be worth knowing at birth to help baby. I had the test this Monday and had to go and get blood taken yesterday (I think this is to be used for diagnosing skeletal dysplasias).

The leaflet said that it will take about 3 days for the trisomy disorders to be confirmed and about 10-14 days for other chromosomal things, skeletal dysplasia etc.

In the meantime, as the baby's weight is measured as below 5% the hospital also booked me yesyerday to induce the labour at 37 + 3 days and I'm scared.

3 days have passed and I got a call today from King's that I have an appointment booked with a genetesist on Tuesday. Obviously I realise that the only results they could have by now is for trisomy and I think they'd notice edwards and patau earlier but downs syndrome is not completely ruled out.

Often GP or hospitals say we won't contact you unless there is a problem. I know this is different but I'm so scared. But I suppose even if the results are negative they'd still ask me to come in rather than tell me on the phone? Or is that not common and I should expect the worse?

There are a lot of threads about short femurs and humerus and how things turned out ok but often they're not below 5% so I couldn't completely take comfort in them.

I feel like the joy of this pregnancy has been stolen and I'm very scared for my little girl and if I can cope with this.

Please if you can share your experiences or just send a supportive message as I'm so scared right now

OP posts:
JSB16 · 14/06/2024 00:02

Hi,

my daughters femurs were under 5% my whole pregnancy, they were barely 1% in some of my growth scans. They did grow but always stayed small.
i was also induced at 37 weeks due to this, my daughter was just a small baby she was born at 4lbs8. She’s 3 now and perfectly healthy, she is still petite.
They never found a reason for her being so small and I’ve gone on to have a 6lbs14 baby recently (although his femurs were fairly small in scans also but more around 15%)

Fizzadora · 14/06/2024 00:11

It must be very scary for you @Beartato and I just wanted to send a hug 🤗 your way. Nothing anyone can say will make you feel any better right now but once you know what the situation is then you can come to terms with it and prepare and plan. You've just got to get through the next few days.
Not quite the same but my nephew's baby was scanned and showing small with little movement at 36 weeks and was scheduled for induction but they managed to hold off until full term. He was small (6.5 lbs) but he's thriving now at 6 weeks.

CB1209 · 14/06/2024 20:23

So sorry to hear you’re going through this. Do you have a midwife contact in the FMU? It’s really bad they’re leaving you in limbo like this. I wasn’t at the same hospital (was at Chelsea and Westminster) but had cvs and amnio for suspected t21 and they rapidly called me with the results both times so I am hoping no news is good news in your case. I also saw a geneticist which was arranged by the midwives and he just went through what the results might show so hopefully it’s just someone making a preemptive appointment. Btw my baby was totally fine in the end but I will never forget the worry of dealing with fetal medicine and the different tests, I really hope you get some answers soon x

SnookyPook · 07/07/2024 12:52

@Beartato hi, may I ask if you have any update? I'm going through similar. Clear screening and normal NT at 12wks. 20wk scan showed small femur. Growth scans show it's growing but never gone above 3rd centile. No other soft markers etc. Most likely just a small baby but we've just opted for amnio which will be tomorrow at 35wks on the dot to rule out possible genetic causes which seems to remain the only question mark as placenta/infection markers etc all look good. They've also not mentioned skeletal displasia/blood tests to us...

Hope you and your little one are doing ok. Xx

Original poster
Beartato · 07/07/2024 13:29

@SnookyPook Thanks for reminding me about this thread. I've since given birth to a beautiful baby girl but here's how everything unfolded since my last post.

I was referred to King's, it wasn't my main hospital so I didn't have a direct contact to anyone. I got a call on the day of the appointment from one of the midwives with the initial results of the trisomy which were all negative. I asked if the appointment with the geneticist is to talk through those results and she didn't even know I had an appointment. I think possibly having the amnio simply triggered an automatic booking of an appointment.

The geneticist asked about the height of our parents and siblings and wasn't interested in heights of grandparents as their shortness could be easily associated to environmental factors, worse nutrition etc.

She looked at all the scans and was pretty confident that we are not taking dwarfism into consideration as although all her short bones were under 5th they weren't that far below the chart and she said normally with those they see those measurements much much lower. Due to the recent hacking at King's there was also a delay in getting the results of the rest of the things they were testing for (chromosomal things, skeletal dysplasias etc.) so we wouldn't get them before the birth (I ended up being induced at 37 + 3 days due to the estimated weight below 5th due to short long bones). She said it will make sense to examine the baby after birth at this point as there's nothing we can do.

When the baby was born, she was checked by the baby doctor in the hospital who examined her arms and legs and didn't have any concerns. She said she looks fine, the legs are bending as they should etc. and so I felt immediate relief that she was just a small baby and I was just one of the hundreds of women I read about on mumsnet who had concerns about short long bones and just had small babies.

Day three after birth I got a call from the geneticist that the amnio did indicate something - she's apparently missing tip of one of the x chromosomes which deletes the SHOX gene responsible for proper growth of limbs if I understand correctly. She said that there wouldn't be any intellectual changes, just that she would probably be around 4 ft 10 - 5ft and her limbs would be shorter.

It's been a major shock to me after convincing myself that everything is completely normal and I went straight into research mode as it will be another couple of weeks before we meet with the geneticist to get more details. It seems that different short stature things like this most commonly can go undiagnosed as genetic testing is so recent people wouldn't know what is the cause of being short.

There seems to potentially also be an option of administering daily injections of growth hormone which could help gain additional 7-10 cm but it's important that it is done before puberty. I'm so thankful for doing the amnio, even though it was a bit scary at the time, but now that we know the cause we have options and can do something about it at appropriate times in her development.

I don't want to scare anyone but my experience did make me think how many other women could have had a similar experience of seeing things on scans and then being told by the doctor everything is fine after birth and only to find down years down the line that the child is missing height milestones and not knowing why and potentially missing the option of growth hormones in time.

It was scary hearing the news but I love her dearly and feel like I'm now at least informed to do everything I can for her to make things better for her.

I truly hope that nothing is found in your case but I just wanted to commend you on doing the amnio because I know it can be scary and there were people around me who were judgmental about me doing the test.

Wish you all the best, please do update as well once you get your results x

OP posts:
boredybored · 07/07/2024 13:42

This happened to me , my son is 13 now and has learning difficulties, lack of speech and is little .

We were also told after the amnio that all was fine and it wasn't .

In my experience if something is amiss on the bloods or scan it means ,something' !

Original poster
Beartato · 07/07/2024 15:18

@boredybored Thank you for sharing. Did you ever find out the cause for the difficulties? I remember looking into different short stature disorders, I think it was called Noonan etc. and they said they don't test for these when doing the amnio. I suppose there's so many disorders out there they can only test for so many things. Wishing you all the best x

OP posts:
boredybored · 07/07/2024 17:02

He had a micro array when he was around 1 and his disabilities were becoming obvious .
He has duplications on 3 genes in his X chromosome but it's unseen on anyone else thus far

Noonan is a known syndrome but there are loads of 'miss spellings ' which cause issues like my son's.

There is a website / charity called Swan which stands for syndromes without a name . There are loads of us !

SnookyPook · 07/07/2024 17:37

Beartato · 07/07/2024 13:29

@SnookyPook Thanks for reminding me about this thread. I've since given birth to a beautiful baby girl but here's how everything unfolded since my last post.

I was referred to King's, it wasn't my main hospital so I didn't have a direct contact to anyone. I got a call on the day of the appointment from one of the midwives with the initial results of the trisomy which were all negative. I asked if the appointment with the geneticist is to talk through those results and she didn't even know I had an appointment. I think possibly having the amnio simply triggered an automatic booking of an appointment.

The geneticist asked about the height of our parents and siblings and wasn't interested in heights of grandparents as their shortness could be easily associated to environmental factors, worse nutrition etc.

She looked at all the scans and was pretty confident that we are not taking dwarfism into consideration as although all her short bones were under 5th they weren't that far below the chart and she said normally with those they see those measurements much much lower. Due to the recent hacking at King's there was also a delay in getting the results of the rest of the things they were testing for (chromosomal things, skeletal dysplasias etc.) so we wouldn't get them before the birth (I ended up being induced at 37 + 3 days due to the estimated weight below 5th due to short long bones). She said it will make sense to examine the baby after birth at this point as there's nothing we can do.

When the baby was born, she was checked by the baby doctor in the hospital who examined her arms and legs and didn't have any concerns. She said she looks fine, the legs are bending as they should etc. and so I felt immediate relief that she was just a small baby and I was just one of the hundreds of women I read about on mumsnet who had concerns about short long bones and just had small babies.

Day three after birth I got a call from the geneticist that the amnio did indicate something - she's apparently missing tip of one of the x chromosomes which deletes the SHOX gene responsible for proper growth of limbs if I understand correctly. She said that there wouldn't be any intellectual changes, just that she would probably be around 4 ft 10 - 5ft and her limbs would be shorter.

It's been a major shock to me after convincing myself that everything is completely normal and I went straight into research mode as it will be another couple of weeks before we meet with the geneticist to get more details. It seems that different short stature things like this most commonly can go undiagnosed as genetic testing is so recent people wouldn't know what is the cause of being short.

There seems to potentially also be an option of administering daily injections of growth hormone which could help gain additional 7-10 cm but it's important that it is done before puberty. I'm so thankful for doing the amnio, even though it was a bit scary at the time, but now that we know the cause we have options and can do something about it at appropriate times in her development.

I don't want to scare anyone but my experience did make me think how many other women could have had a similar experience of seeing things on scans and then being told by the doctor everything is fine after birth and only to find down years down the line that the child is missing height milestones and not knowing why and potentially missing the option of growth hormones in time.

It was scary hearing the news but I love her dearly and feel like I'm now at least informed to do everything I can for her to make things better for her.

I truly hope that nothing is found in your case but I just wanted to commend you on doing the amnio because I know it can be scary and there were people around me who were judgmental about me doing the test.

Wish you all the best, please do update as well once you get your results x

Thank you so much for updating and that is so interesting. Also has made me feel glad that we've opted for the amnio just incase there is anything going on that my little man may need extra support for as he's growing up. It is a bit daunting but who doesn't want the best for their child? He is a triple rainbow for us after 3 losses last year and he is so very wanted. When you start looking into how complex genetic codes are etc it's a miracle that anyone is born 'typical' really isn't it?! There must be so many of these little quirks. I will certainly try to remember to pop back and update once we have some more answers. Thanks again - this has been really reassuring to read. Also, congrats on the safe arrival of your beautiful daughter! 🥰 Was her birth weight a bit higher than predicted? How did you find the induction at that gestation? They want my little man delivered by 37wks and wasn't sure how ready my body would be for induction at that point.. 🤔

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