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Original poster

1:2 risk of Down's syndrome (nasal bone absent)

58 replies

Yaya70 · 25/12/2010 11:06

Hello, I'm new to this site, but after some bad news at our 12-week scan yesterday I'm searching for some advice. I'm 40 and pregnant with twins, but at the 12-week scan we were given a 1:2 risk of Down's in twin 1 and 1:26 risk of Down's in twin 2. We're booked in for a CVS on Thursday. The nuchal measurement was fine at 2.0 mm and 2.1 mm, but both twins were positive for some of the soft scan markers. In particular, the nasal bone was absent in twin 1, hence the very high risk (well, it was present but the line was lighter than it should have been). From my research, it seems that an absent nasal bone is very rare in chromosomally normal babies (1-5%). Has anyone else had an absent nasal bone on a 12-week scan and gone on to have a healthy baby?

Any advice would be very welcome.

xx

OP posts:
cluttermountain · 30/12/2010 08:19

Hi, I'm sorry you are having such a stressful time. I believe that no one knows what they would do in your situation unless they are you. Only you ultimately can make the decision concerning the twins. DP to an extent is secondary though important in the decision making. I know that sounds harsh but you are carrying the babies so you have to have the ultimate say- a hard position to be in I know. I really do feel for you as I know the waiting for results is horrendous. I know I found it hard to function after my cvs. When you get the results you and your dp can talk to the prof or consultant again. Not having the results is almost the worst part as your mind goes into overdrive re what ifs etc.... I am thinking of you and hope the results are speedy.

Georgimama · 30/12/2010 08:27

Good luck with whatever you decide to do. Your DP ought to be aware, if he isn't already, that no one can guarantee a child will not have special needs, as these can arise from genetic defect, birth trauma, illness or accident. I hope the hospital where you have had these tests can arrange some counselling for you both, separately and together.

NonnoMum · 30/12/2010 10:50

Hope you are off work at the moment, to concentrate on all these big issues you are having to deal with.

Thinking of you.

cluttermountain · 30/12/2010 12:57

Still thinking of you. I remember my life seemed to go into limbo during the 'waiting' period. I just wanted to hibernate until the results came. Be gentle with yourself..

mslucy · 30/12/2010 15:34

thinking of you Yaya.

of course no one can guarantee a "perfect" child - there are no tests for many severe disabilities. I actually wanted to throttle a friend of mine for pointing this out when I was fretting about my 20 week scan last week.

I totally understand your DP's views re: Downs as they echo my own. I know DS is not the end of the world and is also very much a "spectrum" where an initial "labelling" does not really reflect the potential quality of life or abilities of the individual child.

I have absolute respect for people who bring up DS children and know that they love them dearly. However, I know in my heart that I would struggle and respect your DP for having the honesty to admit this.

My heart goes out to you both at what must be a very difficult time but you sound like strong, intelligent people who have considered all the issues involved in what must be an incredibly stressful situation.

cluttermountain · 01/01/2011 08:04

I guess you have had your results by now. Just hope you and your partner are coping. I know with your situation -twins- that the results may throw up even more questions and difficult decisions to be made. All best wishes to you both..

Original poster
Yaya70 · 01/01/2011 11:57

We got the results and one of the twins does indeed have Down syndrome. It was the result I was expecting given the absence of nasal bone. We're devastated, but I do feel a sense of relief now that we know the result and can decide what to do. The limbo of this past week has been just unbearable.

I just wanted to say thanks to everyone for your support and comments -- it means a lot to know that everyone is rooting for us.

OP posts:
StarExpat · 01/01/2011 12:08

I just wanted to say that I know a little boy who has downs syndrome and he is absolutely lovely. His parents are so happy and he lights up their lives. The decision is yours, but I just wanted you to know that it isn't necessarily the most awful thing. X

countrybump · 01/01/2011 12:09

Thinking of you Yaya. At least now you have the information you need and are no longer playing a waiting game.

ednurse · 01/01/2011 12:11

Kind of shocked at how many people think this is a 'bad' thing. Come on! It could be much worst, your child will still go on to achieve nearly everything it's twin will.

In the meantime check out this blog.

www.kellehampton.com/

she didn't find out her baby had DS until the birth. Start by reading the birth story.

growing3rdbump · 01/01/2011 15:26

I met a lady recently who has twins - one with downs and one without. Have you decided what to do for the best? I really cant say what I would do in your situation. I hope you can make a decision that is best for you all.

StarExpat · 01/01/2011 15:43

I also agree with posters who mention that your dc may have special needs even if they are not detected on a scan. Autism is one example that can't be realised in a scan or even once born. If he is so adamantly against a child with SN, I'd make sure he knows this, otherwise it could significantly affect your future.

Ilovekittyelise · 01/01/2011 16:51

Hi Yaya

I really feel for you. I had a singleton pregnancy in 2010. I wasn't even going to have the nuchal measured and the blood test as a I believed so strongly that I would never ever ever have a termination, but the nuchal was so large it was hard not to see and we ended up having the CVS and my daughter had Down's. Until that moment I had never considered a termination, and being someone who has always had a strong moral code i have learnt an awful lot about walking in someone else's shoes before i judge their actions. I don't want to go into the ins and outs of our thinking and decision making but the most valuable piece of advice that I got was that we would know the right decision when it came to us. We had a termination. I do not regret this at all, it was an incredibly difficult and a very sad year but we still believe we made the best choice for her and for ourselves in the circumstances. However, looking back I now realise that had we made a different choice that would have been the right one too, and whatever choice you make the important thing is that you look after each other.

to ednurse i think your statement that the twin with down's will achieve 'nearly everything it's twin will' is a little mis-informed. With Down's the spectrum of intellectual ability and physical well-being is enormous and pre-natal testing cannot predict at which end of the spectrum the child's life is likely to fall. A child could be at the good end of the spectrum and suffer minor learning difficulties (rare). right through to having extremely limited quality of life and independence and severe heart and other physical problems which make him or her dependent on round the clock care for most of his or her life. Thats the whole point with making this kind of decision; you have absolutely no indication of the likely extent of your child's problems and whether they stand a chance of any form of normality of whether they will have to watch their siblings leave home to go to uni, to find love and not be able to do those things themselves; and you have to make a decision about the future of your family which is based on very limited facts.

starexpat - im sure the lady's husband is not 'adamently against a child with special needs' and realises that things can go wrong that can't be picked up with a scan, and indeed would love his child whatever was wrong with it; but there is a huge difference between making an active choice to raise a child with problems, versus learning about problems later; your comment came across as a bit judgemental.

im sorry you have to make this decision, my situation was different as there was only 1 baby, but you will make the right decision together and whichever one it is it will be difficult but will be right and you will be happy again xxx

StarExpat · 01/01/2011 17:24

Ilovekitty - "DP is adamant that he doesn't want a child with special needs" - that is where I got that from. Not being judgemental. I just want to make it clear that you never know about SN and because he is "adamant that he doesn't want a child with SN" - they need to know this.

Sparklies · 01/01/2011 17:31

As someone who is currently waiting it out (now at 21 weeks) after screening positive with a singleton (odds were nowhere near as bad as yours, but still pretty crap but we did not want to risk the amnio for a variety of reasons I won't list here) I just wanted to send you strength when it comes to making your decision. I can't imagine how hard it must be. Most of all whatever you choose to do, I hope so much you both have no regrets - that is by far the worst aspect of it all.

I am so sorry you are in this situation.

expatinscotland · 01/01/2011 17:35

Having a child is a leap of faith. We have a daughter with SN for which there is no AN test. As pointed out, there are many such conditions, some as a result of birth trauma as well or accident in baby/childhood.

There are no guarantees when it comes to having children.

Clary · 01/01/2011 17:38

Yaya just to add my thoughts for you at this time.

What a difficult decision you have to make, but only you can make it. Ilovekitty's post about the decision being the right one for you at this time is really apt.

I echo what others have said about yr DH - I have a child with SEN but I couldn't possibly have known before he was born - and that's true of lots of other people I know. All children bring challenges.

However, yes, we can all see that knowing in advance yr child has Down's and will be to some extent facing difficulties is a different situation.

Wishing you all the best whatever you decide. But just to say if you search the archives on MN there are lots of positive stories from people whose DC have Down's - Eidsvold, Thomcat and lots and lots of others spring to mind and might be worth looking at.

JustOneMorePlease · 01/01/2011 17:57

Yes clary is right there are loads of us on here.

Speaking for myself I'm more than happy to answer any questions you may have. Quick summary: ds1 (7 years) diagnosed with DS at birth, ds2 (6 years) dd1 (15 months) and currently 33 weeks preg.

I'm proud to say I'm completely non- judgemental on the subject and was devastated when ds1 was born.

I also know people personally who have terminated for a positive result antenatally.

However life has carried on as planned for us and now 7 years on we couldn't imagine life without the extra chromosome!!

Feel free to ask me ANYTHING...... Am thinking of you at this difficult junction in your and your dh's life.

jellybeans · 01/01/2011 18:12

Hi I am thinking of you. I have been through the horrors of bad news at scans and blood tests. In both cases we sadly lost the baby late on. We had an amnio in the first case as there was possible life saving treatment avaliable if the chromosomes were normal. We HAD to have the amnio for any chance of DDs survival but we still agonised over it. We had always said we would never have an amnio/terminate etc. It was kind of forced upon us. Sadly the results were not normal and they would not treat DD (it would be hopeless) which meant she could not survive. It taught me that I never really knew how i would react until i had been in a situation.

In the second case we got a bad triple result for Downs (the other condition was much rarer) but we decided against an amnio as we know a boy with Downs and felt we would manage a special needs child so long as it wasn't very severe or fatal. Certianly preferable to losing another baby at that stage. Sadly we lost our baby anyway to preterm labour, she did not have downs or other chromosome disorder. However, I totally understand others who would have the amnio or 'choose' to terminate with downs or oother disorder. There is no 'right' choice in many cases.

Ilovekittyelise · 01/01/2011 18:21

starexpat: apologies, didn't see that post. emotive subject for me, sorry. I shouldn't post on threads like this i just make people upset and angry.

StarExpat · 01/01/2011 18:23

I'm not upset or angry and if you hadn't seen that then I can see why you would react that way. I would have, too.
OP I'm so sorry you are going through this. It is a very difficult choice to make and I wish you strength. X

MumNWLondon · 01/01/2011 19:16

Just wanted to post to offer support in whatever you decide. I have a friend who has twin boys one with DS, and its hard with them being compared in what they can and can't do, whether to school them together or separately. You have to decide whats best for you.

cluttermountain · 01/01/2011 19:51

Hello again. As you say you are at least out of limbo and can start thinking about the future. Whatever you decide it is for you both to decide. The older I get the more I realise there are shades of grey in life. When I was in my 20s things seemed so clear and decisions so straightforward. I truly believe you have to be in your situation before you can know what you would do. I have not been in your situation so don't know what I would do; your situation is out of my experience. I have had a cvs on a single pregnancy after which I did have a termination. I was shocked I made the decision as in my youth I would have gone on about not making that decision. However that is due to not being hit with the reality of a situation; the sparkly enviable ignorance of youth. But as I say this is your situation and your choices to make. I hope you are getting the support you want and need. Surround yourself with people who will support you and not judge you whatever decision you make. Thinking of you x

ghislaine · 02/01/2011 14:53

Yaya, I'm really sorry that you have ended up with this result. This is a rather ironic post, because I want to tell you not to listen to anything anyone else says. Whatever you decide, it is a decision for you and your husband alone.

I think you also need to discard any thoughts of what might be - what you know is that one of your babies has Down's syndrome. That is the sum of the information. All the other comments about other types of SN your twins might have are just speculation and frankly, irrelevant. Make a decision based on what you know and who you know yourself to be, not some imagined unknowable future.

I wish you strength.

mindy · 02/01/2011 16:56

yaya, so sorry to hear your news, was in the same situation as you, twin pregnancy, cvs confirmed one baby with downs. I will try to find some old threads where I talked about it.
It is a very emotive subject but only you and your partner know what is right for you.
Wishing you love and strength to come to your decision. PM me if you wish to talk offline. xx

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