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Bad news at 20 week scan

(21 Posts)
TheBabyFacedAssassin Sat 15-Feb-14 08:02:00

I was wondering if anyone has been is this situation and can give me a glimmer of hope.

We had the 20 week scan yesterday and got some devastating news. After she had taken all the measurements, the sonographer told us that she was concerned with the length of the baby's limbs in relation to the head. From my notes it appears that the head was measuring on time but the femur length and arm length were measuring about 5 weeks behind what the should be. The notes also read that the legs are bowed and deformed and that the chest is bell shaped.

She went and got my consultant who had a quick look at the scan pictures the sonographer had taken and then in a matter of fact way told us what it appeared like to him. He said it appears that the baby may have achondroplasia (dwarfism). He said it was very rare and caused by a gene mutation at conception. He then went on to say that he couldn't tell from the scan the sonographer had done but there's a chance it could be the fatal form where the chest is too small for the lungs to work, so the baby can survive in utero but once born is not compatible with life. Didn't fill me with much hope to be honest.

He referred me as an urgent case to the specialist in the city so am waiting for that appointment to come through. He says we will get another ultrasound and see a geneticist.

After coming home and doing some googling (which I know isn't a good idea) I found that people had been given news like this before but after further investigation it was found that there was nothing wrong, the baby was just short. DH and I (5'8 and 5'2 respectively) are not tall.

Sorry for the wall of text. What I'm asking is, has anyone here got first hand experience of anything like this that can give me their outcome, good or bad?

Owlysims Sat 15-Feb-14 08:50:37

No experience but didn't want to read and run, fx you get an a appointment very soon and get more definitive answers, good luck thanksthanksthanks

thenightsky Sat 15-Feb-14 08:58:24

Similar experience of being told bad news at 20 weeks, but not of that same condition (ours was spina bifida).

I can imagine what you are going through and how frantic you are feeling. Its so horrible sad

It sounds crazy but what upset me hugely, and still does when I think about it, 26 years later, was the matter-of-fact way we were told and the huge pressure I personally was put under to terminate.

I hope you get better news and hope from the specialist. Mine turned out to be faulty equipment at Nottingham Queens Medical Centre. I've been told I should have sued for the trauma I went through, but I was just happy to have my DD at the end of it.

flowers

Tranquilitybaby Sat 15-Feb-14 09:11:09

I hope you get your appointment very soon and get some more answers.

Please stop googling, it really is the devil.

Hugs xxxx

TheBabyFacedAssassin Sat 15-Feb-14 09:18:38

Thanks everyone.

Thenightsky - I can totally understand where you are coming from. My consultant spent a considerable amount of time talking to us about termination and about how it is illegal where I am (Northern Ireland). He also said how the people in the Royal Victoria Hospital in Belfast would talk through our options about that with us. He really did focus more on the worst case scenario and I felt he pretty much told us that we had no hope.
We will hopefully get the appointment for sometime this week. I have never in my life wanted more for this modern technology to be wrong. I'm so glad that you had a happy ending.

TheBabyFacedAssassin Sat 15-Feb-14 12:20:25

Bump

GingerScouse Sat 15-Feb-14 13:03:00

I'm so sorry you've received bad news. I just wanted to say that there's a girl at the school I work at with achondroplasia and she is amazing. She is a competitive swimmer and so independent xxx

CrispyFB Sat 15-Feb-14 15:08:39

No first hand experience, but I know of a lady on another forum who was told 100% her baby had the fatal form, no hope etc etc. Well, she didn't terminate, baby was born, and did not have the lethal form at all - she just had "regular" dwarfism and was perfectly fine.

I'm sorry you have this worry. I've been on the receiving end of scary news at this scan before (seriously incompetent cervix, given 50/50 odds WITH surgery) and I know how your world just falls away.

Wingdingdong Sat 15-Feb-14 15:23:59

Scans can be very inaccurate. I'm not going to offer false hope as we weren't in exactly the same situation as you; we did have a 14mm nuchal fold/ hygroma measurement at 12w scan and told likely incompatible with life, so I understand how you're feeling, but our consultant was very positive. In the event the hygroma and nuchal fold disappeared over the remaining months, the pregnancy was confirmed viable at 23w and DS is now 2 with no known health issues.

With our DD we were told at the 20w scan that her arms and legs were very short (6 weeks behind), but no other obvious markers for anything were noted AFAIK (no comment on any deformity or chest, no consultant meeting - just the notes on the scan printout). She also had a big head, necessitating EMCS when she got stuck. She's 4.5 and still has a very big head and short arms and legs but you wouldn't notice this unless you were trying to buy a top and trousers to fit!

I'm so sorry you're going through this and hope that everything works out well for you.

justshabby Sat 15-Feb-14 15:24:13

I'm so sorry you are going through this BabyFaced.

I contracted chicken pox in early pregnancy and was told the odds of a normal baby weren't great. I had loads of growth scans and times where the sonographer said the measurements didn't look right and would drag the consultant in. More than once I was given the option to terminate.

My baby (now 7!) was 100% ok and healthy. I know it's not the same situation, but just to let you know the sonogram is not always 100% accurate. thanks

justshabby Sat 15-Feb-14 15:26:35

And when I say "normal" baby, I meant healthy, obviously. [embarrassed]

With chicken pox I was told there could be all kinds of severe deformities.

EverthingcrossedforApril14 Sat 15-Feb-14 17:48:46

Not sure if this will help or not as it is not the same situation but I was given a 1:5 risk of DS from a Quad test had the Harmony but discovered that hospital had made a mistake with the data they inputted so was not at risk at all. The Harmony came back normal. Scans have been fine but I went for a private 4D scan at 30 weeks pregnant and the Consultant said the baby was very healthy and nothing to worry about at all. However, the next day I was reviewing the measurement he took and the FL is measuring 4 and in some cases 5 weeks behind all the other measurements. It is actually only 2 weeks behind my actual dates (so 28 weeks) but all the other measurements are measuring 2 -3 weeks ahead of my actual dates. I emailed the Consultant the next day to seek clarification and he said it was nothing to worry about that my baby had plotted normally on the graph and that babies as with adults come in different shapes and sizes and some have shorter legs. I am not sure if this helps or not as I did not have other issues on the scans. Back at the hospital on Tuesday so hoping FL has caught up. Sending you lots of hugs and hope you get some answers soon, x o

TheBabyFacedAssassin Sat 15-Feb-14 18:17:18

Thank you all so much, I really appreciate all your well wishes and kind thoughts. Thank you for your honest accounts. The crazy thing is that I've been feeling baby move non stop all day as if to say, "mum, chill, I'm fine"! We're trying to live each day as it comes and will deal with things as they happen. It just gets difficult to stay strong all day. It's hard not to consider the what ifs. I am hoping so hard that the scan showed a fluke or that the baby is maybe just growing it's organs first and will concentrate on the limbs after. I mean, the scan calculations are based on averages of data and someone has to be the smallest?

Am trying to stay positive and sane though really don't want to give myself false hope. This is our first pregnancy, first baby and we never considered we'd be dealing with this.

TheBabyFacedAssassin Sat 15-Feb-14 21:18:07

Bumping for visibility

Veeb8 Sat 21-Feb-15 12:10:09

My son was diagnosed at 3 months with achondroplasia he's nearly 4 months now was a huge shock but the more groups I've joined and people I've spoke to in similar situations makes me believe everything is going to be ok. A lot of mums I've spoke to were given the same news as you and their children turned out fine with just normal achondroplasia of course there are things that they will have to have done and things we be a little harder but believe everything will turn our ok ill keep you in my thoughts

SaggyAndLucy Sat 21-Feb-15 18:37:15

Firstly {{{hugs}}}
I'm sorry you are in this position. My DD was diagnosed antenatally with DS.
It seems the default setting for HCPs when you get any kind of issue is to terminate.
It sucks quite frankly.
I don't know much about dwarfism other than knowing a young teen with it who seems more than happy tbh, so I can't offer much advice.
What I will say is to wait. Get as much information from tests and the like as you can in order to get as full a picture as possible before you make a decision.
There are lots of stories of doctors getting things wrong.
Time also gives you room to clarify your mind. Once the initial shock wears off its much easier to be objective.
I really hope you get some positive news. xx

DRSLondon Mon 23-Feb-15 15:04:17

I'm so sorry you are going through this.

I also had terrible news at our 20 week scan. Our baby had spina bifida and it was an agonising decision but we decided to have a termination. The shock was so overwhelming that I still cannot believe what happened. We were so desperate for our baby. We had IVF to concieve and were devastated for it to end so tragically. It was also our first baby.

I am so sorry you are still in limbo and waiting on test results. I appreciate you want to stay positive but I like to think that it is pretty rare for doctors to get this wrong. However I would (and did) certainly get a second opinion.

Whatever you decide to do it will be ok. Follow your heart. There is no right or wrong. It really is the most awful thing I ever went through and I will never fully get over it. However it has become easier and I feel like myself again.

You can read about my rollercoaster journey at www.wakeupsurvivesleep.com

Thinking of you

D

Sweetheartyparty76 Mon 23-Feb-15 20:05:38

I'm so sorry that you are going through this. I wish I had a more optimistic experience. I had had a termination at 15 weeks due to our baby having to acrondrogenesis type 2 (not acrondoplasia but the lethal form).
Last April, we went for a 12 week scan where we told that our baby's femurs were all below the 5% percentile, Nuchal fold of 5.5mm, narrow chest and underdeveloped chin. We were referred to the RVI and they later confirmed that our baby had a lethal form of skeletal dysplasia. The fact that they've only seen these issues at your 20 week scan hopefully is a more optimistic than my experience. Our baby's problems were very obvious at a much earlier stage. Fingers crossed everything goes well at your next appointment. Please feel free to PM if you need to.

whitelanner Sat 21-Sep-19 18:12:38

Hey. I know this is an old post but I am wondering what happened at the end.

NoSauce Thu 26-Sep-19 07:10:15

whitelanner

Hey. I know this is an old post but I am wondering what happened at the end

Are you in a similar situation? If so it might be better for you to start your own thread.

Paige12300 Thu 26-Sep-19 22:46:50

Hsjkd

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