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Dwarfism? Downs Syndrome? Or other?

(34 Posts)
Onwithnumber2 Thu 23-Feb-17 13:59:48

I have posted in antenatal tests but thought I may get feedback from someone who has experienced this and is a few years down the line if I post here.

I am pregnant and had a growth scan yesterday at 36 weeks + 3 and was told the baby's head circumference is measuring at 322mm (36th percentile), his abdominal circumference is 298mm (26th percentile) and his femur length is only 60mm. It's not even on the line, there's the diamond to show the measurement, a big gap and then the line starts.
The sonogropher measured his humerus length too and that was also short at 56mm but at least made it just onto the line at 7th percentile.

She said she would let the foetal consultant know the measurements and see what she wanted to do. Before we had even got down the road from the hospital we were called to say she wanted to see us on Monday for another scan.

Other than that we have had no information whatsoever, it's only from googling that I've found it could be maybe dwarfism or Down's syndrome? I can't really find anything except other message board posts though and I just wish I knew what we were looking at here. Do these measurements sound similar to anything anyone else has experienced?
I suffer from anxiety and I'm the kind of person who really has to arm herself with information for everything and the not knowing is really upsetting me. I know by Monday I'll know more but these next few days are going to be so hard.

Thank you.

HeyRoly Thu 23-Feb-17 14:01:43

Sorry, no experience here but you must be so worried.

Did anything come up during previous scans?

Onwithnumber2 Thu 23-Feb-17 14:07:00

Hi HeyRoly my previous scans did have his legs looking on the short side but me and my husband are both quite short (I'm 5ft 4, him 5ft7) so we put it down to that. He was still on the normal scale though and this time his measurements are way below it sad

Onwithnumber2 Thu 23-Feb-17 14:09:21

Other than that though we've had nothing flagged along the way until now and the risk for Downs Syndrome was considered low at the 12 week scan. I wish she had've given us more information yesterday but I don't think she was qualified to, and I understand they don't want to worry people with a load of "could be"s but actually I could settle better if I knew more of what the possible outcomes could be.

creaser Thu 23-Feb-17 14:16:54

I had growth scans from 28 weeks due to high blood pressure.
First scan legs ok head ok abdominal circumference to big.
Second one head circumference to small other measurements ok.
Next one femur measurement to small others ok this went on every 2 weeks plus an appointment with a specialist who didn't seem overly concerned until she was born just perfect.
I also googled and found every horrible scenario possible.

Hope it's good news, smile

elvisola Thu 23-Feb-17 14:19:39

My daughter was under the centile for femur but not by as much as you describe.

She was fine, no physical problems. She is just tiny, but there are tiny females on her dads side so not unexpected. She's 6 now and the size of a 4 year old.

I was told when I had my growth scan that they would call me back in for another scan in a week as femur lengths can be misintepretated on the scan due to poor position or water. By the second scan she had climbed up to the second centile.

Try not to worry too much until you get a rescan, I know it's hard not to though.

Alicekeach Thu 23-Feb-17 14:21:24

I had this. In my case it was an early indicator of pre eclampsia and a failing placenta. Baby was delivered at 29 weeks as a result but is FINE. He just has short legs!

Onwithnumber2 Thu 23-Feb-17 14:28:30

Thanks everyone for your input. It's brilliant that all your babies turned out to be healthy too smile .
I know google is the worst! Some posters had similar scans and then had terribly sad results and then others had similar scans and then it all ended up fine so it just feels like limbo at the moment! Just don't know what to think. These posts are making me feel hopeful though, the waiting is just awful.

Witchend Thu 23-Feb-17 16:54:44

For a start off, at that stage it can be quite difficult to get a good measurement as they tend to be crunched up, plus a small error (which happens) in measuring can be a big difference in centiles.

Do step away from google. it can't tell you nothing is wrong/what is wrong, so it's not going to be helpful. And even stuff out there can be totally wrong (I can give you some sites which are medically absolutely rubbish if you know a little bit, and they are apparently run by a plausible doctor)
And no one posts a blog saying "I found this that might be wrong and it was boringly normal)

Did they measure both legs/arms, or is that a measurement of one? Did you see the feet/hands?

It's bad of them to leave you hanging, I'd have expected a follow up appointment at least, but that does imply they're not that worried.

With my dd2, they spotted on the 20 week scan that she was missing her left arm from below the elbow. We came back in the next day for a follow up appointment, and we saw the limb centre the next week. We got a pile of information, although in all honesty dh read it all, I couldn't face it for a number of weeks.
I won't say it was easy, but the waiting was the worst time. Once she was born it really didn't seem to matter-she's 13yo and out coaching gym at the moment.
The point when we came out from the scan I'd never have envisioned her being able to do that.

Be kind to yourself. But remember that they are still your lovely baby that you'll be proud of whether they're just small, it was a mistake, or there is something not quite right.

Onwithnumber2 Thu 23-Feb-17 17:08:26

Thanks Witchend yes I have a follow up appointment with the feotal consultant and a rescan with her on Monday, it's just the waiting for Monday to come that's driving me mad! I'll be 37+1 on Monday so at least not too long to wait until we can actually meet the baby and see for sure what's going on.
Good point about measuring both arms and legs or one of each, I actually don't know because I also had my two year old son in there with me so I wasn't always watching the screen. I wish I had've done now! If I'm honest I didn't think anything would come of this scan, I had one at 37 weeks with my first son for same reason (fundal height measuring small) and got sent away saying he was totally fine and measuring normal, so I was just expecting the same again. The massive drop off on the femur length has thrown me!

That must've been so hard to hear at your 20 week scan, I agree it's the waiting which is the worst. Thats brilliant that she's doing so well now though.
Thank you for sharing.

ASDismynormality Thu 23-Feb-17 17:15:50

I had completely forgotten until reading this that my DD1 had a really short femur. Her head was slightly smaller than average, her abdomen massive - just off the scale, her femur was at the bottom percentile.

She did have a rather big tummy when born but now, 15 years old, is perfectly well proportioned!

Onwithnumber2 Thu 23-Feb-17 18:59:12

Brilliant news that all was well with you DD ASD' smile
I think if the measurements were on the scale I would probably feel less alarmed, it wasn't until I saw just how far away the marker was from the line that I started panicking and got on Google, which I know is never a good idea!

Witchend Thu 23-Feb-17 19:55:15

Another anecdote from me.
When I was about 18 weeks with dd2 the midwife listened to her heart and told me how many beats to the minute. It sounded slow to me, so I looked it up because I'd heard a slow heart was a sign of a boy and I wanted to see if it was in the "boy" region.
Bad move.

I found a scatter graph. Dd2's heart rate was off the bottom for the number of weeks. It wasn't even not in the main body, there were none anywhere near.

When they said at the 20 week scan they were just fetching a second opinion, I immediately thought it was the heart.

It wasn't. She has no heart issues. Although her pulse is still low for her age, it isn't a problem at all. And when I've thought about it my dm is the same.

Onwithnumber2 Thu 23-Feb-17 19:58:27

Thank you so much for that witchend that is really good to know. Its so scary when anything is plotted outside of these charts, but really reassuring to know that it doesn't have to mean something really scary and dramatic! It must have been so stressful when you found that graph shock

Onwithnumber2 Wed 01-Mar-17 06:52:30

Sorry I haven't updated sooner, it's been a total whirlwind.
Monday we talked to the consultant and she said as we had suspected that the scan from last week was indicating chromosome abnormalities or an inactive/poorly functioning placenta so rather than doing another scan as they aren't conclusive she said I'd have to be induced that evening.
So I went home and put my little one to bed and collected my hospital bag, came back at 8 to be induced and he was born Tuesday morning at 10:18 at 5 pounds 6 oz.
No signs of any abnormalities! They said the placenta was definitely unhealthy and too small, wrong colour and texture so that must have been it, he does have little arms and legs but they have said he's not showing signs of dwarfism or downs or anything.

Thank you again SO much everyone for your support and advise.

Toomuchocolate Wed 01-Mar-17 06:55:23

Congratulations! Thank goodness you were induced if you had a failing placenta. His arms and legs will probably catch up with the rest of his body. Hope you are recovering well.

twinkletoesimnot Wed 01-Mar-17 06:57:23

Congratulations x

gtyrfctsrght Wed 01-Mar-17 06:59:03

Congratulations!
biscuitwinecake

JellyMouldJnr Wed 01-Mar-17 06:59:27

Wonderful news, congratulations!

ursuslemonade Wed 01-Mar-17 07:05:18

Great news, congrats x

HeyRoly Wed 01-Mar-17 08:00:50

Oh wow, how dramatic! Definitely one of those situations where the baby is better out than in smile

Congratulations flowers

VivienneWestwoodsKnickers Wed 01-Mar-17 08:06:12

congratulations!

Backingvocals Wed 01-Mar-17 08:12:11

Lovely smile

ASDismynormality Wed 01-Mar-17 08:17:10

Lovely news x

GirlElephant Wed 01-Mar-17 08:19:37

Congratulations! Delighted he's happy & healthy

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