I’m not sure why I’m writing this to be honest. Partly to see if anyone else has been through a similar thing, and partly to make myself feel better. We suffered from 2 mc last year and I found out I was pregnant again in November. I spent the first few weeks worrying about mc again and went for an early scan at the EPAU because of some spotting. Everything was fine and we saw a little heartbeat so I started to relax. We went in for our 12 week scan this Monday, I was worried about having a mmc and was so relieved when we saw a little moving baby on the screen. The sonographer seemed concerned though and made me go for a walk as she said she couldn’t get the baby in the right position to take all the measurements. I thought it was because she got a nuchal measurement of 3.2 mm which I know is a little bit on the high side, maybe she wanted to take a few more measurements? When we got back, she had another quick look and then told us that someone looked seriously wrong and we were taken to an office with a senior midwife. She told us that the arms and legs didn’t look right and were much shorter than expected. She also said the feet were at an angle that is unexpected.
We went back on Tuesday afternoon and had a consultant scan me for over half an hour. This time, I knew what he was looking for and the legs & arms were absolutely tiny. He tried to measure the femur and humerus and got measurements back of a couple of mm. After he had finished, he said that no part of the anatomy looked normal; the arms and legs are extremely short and the chest doesn’t look like it’s developed normally either. He also thinks he saw a fractured rib. He told us that it is a lethal abnormality and the baby won’t survive birth. We’re both absolutely heartbroken about it. The hospital has been wonderful which has helped but it’s just awful. They recommended a termination and a post mortem on the baby and genetic testing for me and DH, so they can tell us if it could happen again. We’ve decided to do this, it’s the right decision for us. Even so, as someone who is vehemently pro-choice, I felt awful making the decision, I said to the midwife that I feel like some evil person for thinking this is the right thing to do, I know it is the best decision but I still feel so guilty. The consultant reckons it’s something called Osteogenesis Imperfecta, basically a kind of skeletal dysplasia and brittle bones, but we won’t know for sure until we get the results back in 3 months or so. We don’t know if it’s a de novo mutation or if it’s recessive, I really hope it’s de novo but if it’s recessive I guess we’ll just have to deal with a 25% chance of it happening again each time.
I went back yesterday to sign all the consent forms for the termination and to take the 1st tablet. I have to back tomorrow for the next lot of tablets and to give birth to my baby at 13 weeks. They have a special room on the labour ward for this but having to go down that corridor will be awful; I’m dreading it but also looking forward to the relief that it will be over. We were hoping to be telling people that we were going to be parents this week and instead, my baby is dead and this might keep happening to us.
If you managed to get through all my ramblings, then you deserve some sort of prize. I’m sorry it’s all jumbled up, my head is all over the place and I don’t have it in me to go back and reorganise it into something more coherent.
I was wondering if anyone has gone through or is going through something similar? Has anyone lost a baby to skeletal dysplasia and has gone on afterwards to have a healthy baby? I could really do with some hope right now. 
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Antenatal tests
Lethal Skeletal Dysplasia
FlyingSpaghettiM0nster · 19/01/2017 16:24
I'm so sorry 
I haven't got any useful experience to share but my heart goes out to you and your partner.
I'm so so sorry, that's awful and so sad to read. Haven't got any experience to share but I imagine someone else may do. My heart goes out to you and your partner
OP this must be so devastating. I haven't been through what you are going through, but have lost pregnancies. I just wanted to offer you a hand hold for the horrific rollercoaster you are on. Please talk on here as much as you need to.
I can't help in sharing an experience but wanted to,post just to offer sympathy. You sound like such a lovely person and this is such a horrible thing to be happening to you. I'm so sorry
Thank you so much for your kind words. I haven't left the house today, had to pop to Tesco yesterday and there were babies everywhere and they have that baby event on right now as well. The next few weeks, I'm going to notice every single pregnant woman and baby within a 2 mile radius of me I think 
Also, I have no experience of this (bar a MMC in 2010) but just wanted to offer you my love & support.
I'm so sorry you're going through this, be kind to yourself. I'm pleased to hear that the hospital are treating you kindly .
I am so sorry for your loss. I hope the post-mortem gives you some comforting answers. I know from experience it's a long wait until the results come in so wishing you lots of strength. Take the time you need to grieve, you have been incredibly brave.
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Just sending you support and love at the hat must be a very hard time for you and your husband. And lots of positive vibes for your future.
I'm so sorry for your loss. I'm glad you were able to see her and of course she was your perfect baby.
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