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Pregnancy

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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.

OP posts:

sh77 · 25/12/2010 11:20

Sorry for the anxiety you are facing. I don't have any experience of this but have you thought of getting a second opinion? Prof Nicolaides at the Fetal Medicine Centre on Harley St is excellent.

Hope you get some answers soon.
xx

Iwasthefourthwiseman · 25/12/2010 11:31

Sorry you've had this difficult news. But second guessing and googling won't change the result, so you need to sit tight till Thursday. That's easy for me to say, you must be worried but best to wait till you have the full information.

AbiAbi · 25/12/2010 13:51

I had high risks of down with DS2, my best advice would be to definitely get a second opinion as Sh77 suggested. I'd also recommend ARC, a helpline and webiste that can give you some advice. There's also a section of this site called 'antenatal tests and choices' which I found very helpful. Good luck.

purplearmadillo · 25/12/2010 16:51

Hello. I had a scan at fetal medicine centre with DS. The nasal bone was only very slightly visible and as such they marked it as absent. He also had another soft marker, a bright spot in the heart i think However I had the scan very early in the window for doing the nuchal scan and they told me this affects the result as nasal bones develop slightly later in the window.

For peace of mind I had it redone at the end of the nuchal scan period and it had developed. DS does not have downs syndrome.

While everyone is different and you clearly need more info, I just wanted you to know what my outcome was. Good luck.

Original poster

Yaya70 · 26/12/2010 08:54

Thanks everyone for your replies. I thought about getting a second opinion, but Prof Nicolaides runs the department of fetal medicine at the hospital where I had my scan (UCH) so I suspect the results might be the same.

Purplearmadillo, thanks so much for sharing your experience with me. The absence of the nasal bone is the thing that's really worrying me, so your experience has given me some hope that it might just be ossifying later in one of the twins. I think even if the bone was present, we would still be quite high risk so would probably have the CVS anyway. I'm going to call the hospital when it opens later this week to see if I can find out more about who's going to do the CVS and how experienced they are to put my mind at ease a little bit. The miscarriage risk is playing on my mind a lot.

OP posts:

mslucy · 26/12/2010 14:15

I had a CVS done in UCH by the Professor of fetal medicine.

He was amazing and the baby (DC2) was fine.

If the person doing the test is competent and experienced, then the risks are much lower than the headlines suggest.

Have the test before jumping to any conclusions.

Original poster

Yaya70 · 26/12/2010 18:41

mslucy, thanks so much for your message. Can you remember the name of the prof of fetal medicine that did your CVS?

OP posts:

ledkrsbellyislikesantas · 26/12/2010 19:00

wanted to add at 43 i also went to prof Nikolades(or whatever his name is) at the fetal med centre in harley st.They are amazing and so professional,the prof is very knowledgable and reassuring too.
I had a 1 in 28 chance when went there which came down to 1 in 600 she is due in 5 wks and all seems well,good luck to you all.

KatieMcFlightly · 26/12/2010 19:11

I was high risk with dd2. Had the Amnio nad the consultant doing it told me that the risk was gone now that he'd taken the needle out. I still had to be careful but these doctors are fab adn know what they're doing

cluttermountain · 26/12/2010 19:16

I too would suggest ARC. I found them invaluable. I had cvs in a pregnancy. I found the waiting for results more unbearable than the traumatic result itself. I don.t want to go into my experience too much. I don.t know if ARC are available to talk to now. I would hope so. I am thinking of you. you sound so calm yet I know how hard this must be. I hope you have family or friends who can support you whatever decisions you make.

cluttermountain · 26/12/2010 19:46

sorry rereading your post I sound too negative. Your situation is different to mine. You take very good care of yourself and let others support you. The physical aspects of my cvs was not bad and as others have said the docs doing cvs are experienced. I wish you well. xx

mslucy · 26/12/2010 20:17

Professor Eric Jainaux (he's Belgian)

here he is:

www.obgynlondon.co.uk/.

He was calm, reassuring and utterly lovely.

NonnoMum · 26/12/2010 20:23

Not got any experience in this area, but just wanted to acknowledge your post...

Hope all works out for the best. Are these your first babies?

Original poster

Yaya70 · 27/12/2010 13:53

Thanks ladies for your replies. I'm really touched that you've all taken the time to let me know your experiences and send your good wishes.

Yes, these are my first babies. I decided to get in touch with Prof Nicolaides after all and he called me straight back. He was so kind and very reassuring about the miscarriage risk of CVS. He told me that CVS is a very straightforward procedure and that my risk varied from 1 in 100 to 1 in 500, which was very reassuring. He told to make sure that the CVS was done by the lead clinician there (he's a former fellow of Nicolaides) and that I shouldn't let anyone else do it as it's twins. So, I'm going to get in touch and make sure it will be him that's doing it.

OP posts:

NonnoMum · 27/12/2010 17:15

Glad you've had some good advice from the professionals. Do let us know how you get on. Been thinking of you all day (partly for selfish reasons as my DH and I are considering another one in my 40s). Hope you've managed to enjoy Christmas.

sh77 · 27/12/2010 18:52

Really good that you managed to make contact with him. He truly is a lovely person. I had my scan done by him as some of the measurements done by the NHS one were on the small side. Everything measured normal when he did it.

When you call to make the app, tell the secretary that you spoke with him and she will make sure you get the right person. The wait might be quite long when you get there and so take something occupy your time.

Wish you all he very best.

Scouseem · 27/12/2010 19:19

Hi I had cvs about 5weeks ago. The first doctor who done it was training an actually done it wrong so another doctored done it again. Touch wood but baby is doing brilliant. I think you have to kinda put the miscarriage risk out your mind as it really usually is much lower then the 1-2% they say. Just stay positive and keep in mind all the positive stories that people will tell you.
Thinking of you and have everything crossed for you and your babies. Xx

dikkertjedap · 27/12/2010 22:38

Do you know what you would do if it was confirmed that one or both had Downs? Because if you were to say, whatever happens I want to keep them, then I would personally not go for the CVS,but only in that case. One of my best friends has a DS with Downs (totally out of the blue, hadn't shown up on any scans, blood tests), the first few months were very hard for her. However, she worked really hard with him and he has achieved so much. He is a lovely lovely boy. Wish you all the best.

MuffinMouse · 28/12/2010 10:39

I really feel for you. I had a high risk of DS with DC3 - largely due to absent nasal bone and blood markers - and my age. I had the scan done a second time a week later and the bone had appeared. So it is definitely worth getting it done again. I had all my NT scans done by an excellent clinic trained by Prof N.

I also chose to get booked in for a CVS the day after the second NT. (I was given the option to cancel right up to the last minute). This gave me the confidence to wait another week.

It was the best decision for us. The results changed startlingly to very low risk. So I chose not to have the CVS.

Although it might help to know how you would act if you knew the results, I believed that I wouldn't know what I would do, until I got the results.

Also - the more CVSs a Dr has performed the lower the risk. Some hospitals won't offer it as staff are too inexperienced and send patients to more experienced Drs. I was told it was the difference between 1:75 risk of mc and 1:150 risk. (if memory serves me right). So I think you are right to get the Dr suggested. Good Luck with it all.

WimpleOfTheBallet · 28/12/2010 10:46

I cannot tell you if my sister had the exact same results re the nasal bone but I can tell you that she had her twins at 41 and that there were very high expectations they would both have Downs...due to tests....they were both born premture but without Downs.

I rememer that the results were so clear that my sister and herDH were surprised when the twins did not have Downs...they had accepted it by then. The twins are now seven and doing beautifully. Good luck with everything.

MumNWLondon · 28/12/2010 15:08

Good luck with CVS. I do know someone who has twin boys one has downs and one doesn't. Especially hard as such a visible big difference in their development.

Original poster

Yaya70 · 29/12/2010 23:06

Thanks again for your replies. Just to let you know that I went ahead with the CVS today with Prof Nicolaides at the FMC. All was very straightforward (only took a couple of minutes per baby) and we saw the heartbeats afterwards. He said all the risk is during the procedure and as the hearts were still beating away afterwards, the risk of miscarriage is pretty much zero now.

Unfortunately though they re-did all the risk estimates and today both twins were given a risk of 1:2. We get the CVS results on Friday.

If both babies have Down syndrome, then we would terminate. If one is fine and one has Down's, the decision would be more difficult. You can do a selective termination, but there's a 5% risk that you will lose the other baby as well. Seems quite a risk to me. DP is adamant that he doesn't want a child with special needs, and I couldn't go ahead unless he's 100% supportive of the pregnancy.

Will let you know how I get on.

OP posts:

electra · 29/12/2010 23:16

Hi Yaya, I'm sorry you've had to go through so much. Just wanted to say though that although it may seem obvious, some SN cannot be tested for - like autism for example. Has your dh thought of this? I am no expert on having a child with DS but I have heard that the reality can be very different from the idea. I hope you don't mind me saying this. Just wanted to add my thoughts that nothing in life is ever guaranteed.

MumNWLondon · 29/12/2010 23:30

Yes electra is right - I have a few friends with children with severe special needs (often more serious than DS), all had normal AN testing in pregancy, one has DS with autism, another a DD with cystic fibrosis, another had a child with cerebral palsy (due to her going into labour at 30 weeks, although labour stopped and she went to term), another has a DS with muscular dystrophy.

MegBusset · 29/12/2010 23:36

Indeed, I should think the only way to guarantee not having a child with special needs is not to have one at all.

I'm sorry you're having a tough time and hope things work out well for you.

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