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20 wk scan - achondroplasia? Experiences please???

(10 Posts)
sleepwhenidie Wed 02-Sep-09 15:37:04

Have just had 20wk scan and pretty much all of the measurements are very low (not on scale) after normal 12 week scan previously. Have to see consultants for more scans and possibly amnio tomorrow but we are being told that causes could be growth restriction (but they say unlikely for it to be this obvious at 20 wks) or more likely some form of dysplasia such as achondroplasia. Anyone experienced any of this? What was outcome for you please (good or bad).

Deemented Wed 02-Sep-09 15:52:22

I'm sorry - i have no experience of this, but didn't want your post to go unanswered. You must be incredibly worried.

CMOTdibbler Wed 02-Sep-09 16:02:58

Emkana's son is growth restricted and iirc it was diagnosed at 20 weeks as well. I'll try and find her to push her over this way.

The Restricted Growth Association provide support for parents, and would be well worth calling

sleepwhenidie Wed 02-Sep-09 16:57:42

thanks for responses - yes DH and I are very worried sad. We had small scares with scans for DS [told high chance of DS/dysplasia] and DD [again told DS likely so we had CVS] and everything turned out to be fine but all of the measurements are so low with this one that we think our luck must have run out and there has to be something seriously wrong.

TheDMshouldbeRivened Wed 02-Sep-09 17:01:30

I see Dibbler has posted the restricted growth web site. And watch 'Little Poeple' so you can see that even if your baby has thins condition he or she will lead a full and normal life.

TheDMshouldbeRivened Wed 02-Sep-09 17:36:15

here
just been reading it. Hadn't realised its actually quite rare. 1 in 15000. compared to cerebral palsy which is 1 in 400.
I can understand your worry but if your child does have this it will become your new 'normal'.

CMOTdibbler Thu 03-Sep-09 09:38:34

How are you today ?

sleepwhenidie Thu 03-Sep-09 19:22:09

Hi thanks for responses, we saw consultant at King's today, she was great. She actually doesn't think that baby has achondroplasia, but of course couldn't rule it out, nor does she think it is Trisome18 (Edwards syndrome) although this is a possibility too. She thinks IUGR is most likely and it is quite severe, with baby's est weight at 160g when it should be around 300g at this stage.

...so we basically have to wait and see, have lots of scans and hope that my placenta keeps chugging away long enough for baby to have a fighting chance of getting big enough to be delivered into neo-natal care sad but trying to be as positive as possible. I have posted a new message this evening asking for people's experiences of IUGR, hoping for some positive stories (although I know not all will be).

emkana Thu 03-Sep-09 22:21:55

Hi, sorry to come to this late. Our son has a skeletal dysplasia, but no definite diagnosis - there are over 200 different types, and it can be very difficult to diagnose both in utero and afterwards. Our ds is a lovely boy, very beautiful smile (check out my profile), and as somebody said, it just becomes your normal. sounds like there's something else going on with your baby anyway, but if skeletal dysplasia turns out to be a possibility after all, don't hesitate to get in touch. good luck

sleepwhenidie Fri 04-Sep-09 10:42:04

Thanks Emkana - and he is very beautiful!

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