a 1 in 3 risk of Down Syndrome at 39 years old

[myfairlady]

I had the Nuchal fold test today and to my great shock was given a 1 in 3 risk of having a Downs Syndrome baby. We now have some hard decisions to make. Do we have the amnio and the CVS, would we terminate if results were positive? I would very much like to hear from other people's experiences of such a high screening result. I know it's nothing conclusive but 1 in 3 is terribly high.

It must be such a worrying time for you at the moment. I have a 2 yo with down syndrome( amazing wonderful, cheeky little girl) I had no nuchal fold test etc but at 20 weeks they detected what they call a 'hard marker' for down syndrome - a heart defect - in essence it meant that it would have been very rare for our baby to be born without down syndrome.

We decided against any further testing - for the very simple and personal reason that the test result would not change the outcome. We were going to have this baby.

To me - that is the decision to make - what are you going to do with the information when you have it.... once that decision is made then you can make a decision on the tests - again that is my personal view.

I know some people who just wanted to know to be prepared should their test result for down syndrome come back positive, others like us did not want to know, others again who had decided that they would terminate should the test be positive.

Again from a personal perspective - I am due to have no 2 any day now and again despite being at a higher risk of having another child with down syndrome and them finding a soft marker at my 20 week scan - I did not have an amnio. Again - personal choice - plenty of people would find that strange.

Once again - I understand that this is a worrying and stressful time for you but you simple need to decide what is best for you and your family. Yes 1 in 3 is high but there is still the 66% chance that the babe is fine.

IF you want to ask anything else - feel free.

Check out the special needs section there are plenty of people there who can also give you advice etc.

Hope you make the choices you want.

I think Eidsvold has the right question.... what are you going to do once you find out ? I think it is wise to have some sort of idea what you would do if the test came back positive.
A good friend of mine didn't expect to have a baby with DS (risk was very low).... so it was totally unexpected when at birth she was diagnosed.... and of course there was no choice so she has had to get on with it... and it is going really well.
Her DD is absolutely fabulous - and I sometimes wonder if she would have terminated if she had known.
Good luck - what ever you decide

Guess you have some straight talking to do with your dh/p.
Try and look into all the options,and as ronniebaby said check out special needs thread.
this one from Thomcat

Wishing you all the best in your decision.

unicorn - an inspired touch adding Thomcats thread. That was a truly beautiful thread

Sorry, myfairlady, also meant to say Good Luck.

I am 36 and dh is 35 and had the same result as you 1 in 3 for DS, they think it was because I was an "old" mum (I also have a dd who I had when I was 30). I was so shocked I wanted to cry but couldn't. My midwife broke the news to me over the phone and didn't offer any further advice, I was basically told it was up to me to decide what to do although they had made a hospital appointment for me to see a special counsellor at the hospital. The counsellor was very kind but they still kept throwing these ifs and buts into the equation, in the end my dh and I decided we had to know one way or the other and took the plunge and had the amnio (which I have to say was extremely painful). The first 48hrs after were the worst as everytime I had the slightest twinge I thought I was going to lose the baby. The upshot is all my tests came back negative and I now have a healthy baby boy. I know the worry you are going through at the moment and if you want to chat more please let me know and I will get Mn to unblock my email to let you CAT me.

I have recently been through a similar experience (I am 37). My nuchal came back with a 1 in 11 risk - I was equally shocked, as my previous result for my dd when I was 33 came back as just under 1 in 2000. I had no hesitation in going for a CVS - as I felt that the stress of going through the rest of the 9 months without knowing would be unbearable.
For me, the result wasn't good (Patau's syndrome diagnosed), so we did opt for a termination - but I guess we were the unlucky ones on the statistics.
Wish you all the best at this difficult time. The important thing is to make the right decision fot YOU.

Tallbird I am so sorry. I know when I was in a panic, it was Patau syndrome that really worried me.

Myfairlady, I had a nuchal scan 25 weeks ago (am now 37 wks pg) and my results were pretty bad (1:44). I decided against further testing and am hoping and praying my baby is born healthy. An amnio or cvs can diagnose Downs but it cannot diagnose the level to which the baby is affected. For instance, a Downs baby can have some very mild problems and go on to lead an almost "normal" life or it can be severely affected and suffer lots of problems. So, even if you do go for diagnostic tests and they return a bad result, all is not lost and your baby might well just need some extra help.

Hope that makes sense, in a bit of a rush.

good luck

wow, that was the first message I ever posted on mumsnet and I am overwhelmed at the response, thank you so much!

Thank you eidsvold for your calculations of 66%, that makes it seem all of a sudden a lot easier to look at. Thank you Fimbo for your encouraging story and your kind offer.Thank you all I feel immensly supported. Will look at special needs section.

I am seeing a genetic counsellor today and I have a long list of questions. I don't feel sad at this point, just want to get the facts straight in order to make well adjusted decisions.

As well as everything else this is an IVF baby, 4 years in the waiting. I am terrified if when faced with a positive result we will make the selfish decision of a termination, but we both have to be happy and my husband so far has said adamently no to a DS baby.

Onwards and upwards, everything happens for a reason x

P.S could someone please explain the abreviations used? like DD and Dh and Mn I think, sorry new to this, althouh I can figure out what they mean, thanks

myfairlady - sorry to hear about your situation. Aren't all the people on here lovely? For the abbreviations, click on the blue 'acronym list' link at the very top of the page

DearHusband
DearBaby
DearSon
DeaDaughter,...
Mumsnet = MN

I am not trying to influence you but I would suggest if I may (as this is such a long awaited baby) that you do ask your DH to do as much research as you.... maybe meet parents of DS children? It must be very hard. I know I would have been very hesitant too.... having met 2 kids with DS, I would keep a DS baby now... can't say if I would have before.

Good luck and as to the abbreviations, take a look at the Acronym List above....

I hope it works out well for you

myfairlady, so sorry to hear about this, especially after you've had such trouble conceiving. i had amnios with both my pregnancies, the second because of a risk of edwards syndrome, a fatal condition. i would seriously advise you to at least make a holding decision before you have an amnio/cvs because once you get a bad result back, that's not an ideal time to make such a choice...so would you terminate the pg? (i know you said your dh wants that but what do YOU want?) if the answer is no then you may not even want to go ahead with the test at all. when you see the genetic counsellor write stuff down, it's easy to forget things. xx

Best of luck, myfairlady, keep that 66% proportion in your mind. As older parents we only ever went on the nuchal scan and although our results were good in my view, one was apparently near enough the line for us to be recommended CVS. We preferred not to opt for invasive testing but I know many others who have done and all has been well. I do agree with all the others who have said that if you do get a definite DS diagnosis, don't let your husband sway your mind unless termination is the route YOU want to take also.
Best of luck today. And welcome to Mumsnet. You'll find support and friendship here!
Bunny2, fingers crossed that all goes well for you.
Tallbird, saw your earlier posting about your Patau's diagnosis. Have been thinking of you a lot.

Hi myfairlady, just seen this for the 1st time. Just I'm thinking of you today, please let us know how you get on.

So ....., if the results show that this little baby will have Down's syndrome (or DS as I'll refer to it a lot).........
How do you feel hon', in your heart about all this. Does it scare you?
Why is your husband adament he doesn't want a child with DS do you think? I mean I understand you're both worried and all that, really i do, but just interested in what it is about DS that scares him so much? It just seems so sad after years of trying for this little baby that's all.

I will have nothing but respect for any decision you make if the results show that you child will have DS. I'm sure whatever decision you make it will be done by first surrounding yourselves with all the facts etc.

If you are faced with having to make a decision, and if I can help put across a positive side to having a child with DS would you please allow me to do that?

I'm not here to sway you, make you change a decision you may have made in your hearts or anything. I just REALLY feel that if you find yourselves at a crossroad i'd really like to meet you there and show you my road. If you choose to take that road I'll celebrate it with you, if you choose another path i'll be there to hold your hand.

Either way I'd love the oppportunity to tell you about my amazing, wonderful, naughty, cheecky, very, very normal little girl, Lottie, who happens to have Down's syndrome. She's just like any other kid I know, she's just got something a bit extra, and I don't just mean her extra chromosome, I mean something extra special.

I'd love to talk to you more, here, via email, on the phone or in person if you like. I mean that so sincerely. Please, please contact me in any way you wish if you want to talk more.

Thinking of you and wishing you a healthy and happy pregancy and birth.

Love Thomcat xxxxxxxxx

What a lovely post Thomcat

When I was pregnant with DS (now 4.5) I was offered immediate CVS. I was over two months pregnant before I even realised it so the day I went to the Drs for the first time I was also told I had to decinde there and then about the CVS - I didn't even know what it was! That was a Friday and I was told I must inform them on Monday if I wanted it. I asked for a nuchal fold test and the Dr had never heard of it (this was in Denmark not UK). Needless to say the weekend was spent scanning the internet and in discussion with DH as to what we would do. In the end though it was a very easy decision because we realised that we wanted and would love the babe regardless of any special needs so testing wasn't really necessary. For many people it is a tough decision but follow your heart and discuss everything with DH and I'm sure you will come up with the right answer for you.

Husbands are always slow on the uptake with disability (speaking as someone with a severely autistic child- so with lots of friends with disabled children). The majorty get there in the end though - my dh was fantastic once he got his head round the idea (although to be fair not all do get there). I think at the end of the day you have to have the final say whatever that decision is- if you did decide to terminate then it would be you who would have to go through that - not your husband.

Also when you see the counsellor- do ask what the 1 in 3 is for- is it specifically for DS or is it 1 in 3 for DS, Turners, Edwards, Pataus. All can be picked up on the nuchal- but Turners and DS are a very different kettle of fish than Edwards or Pataus. I have a friend whose dd has Turners - she is high functioning autistic- goes to a mainstream school and will live independently- and is normal stature (often girls with Turner's are short) and doesn't have any other obvious physical features.

Thinking of you.......

Thomcat your post has just brought a real lump to my throat.

Myfairlady - I can by no means offer such fantastic advice that has already been offerred on here. Just couldn't read yuor post without sending you my best wishes. I sincerely hope everything works out for all.

oh and another story- a friend came back with a very large nuchal fold measure- her son is XY/XO mosaic (in other words some of his cells are missing a Y chromosome)- absolutely no effect on him at all (could have been sterile- but all appears to be fine).

tallbird, sorry i missed your post earlier. lots of love, thinking of you, xxx

Lots of sympathy myfairlady having also had my nuchal fold test this week (I'm 40). Was also in the position where my partner just assumed that I would terminate if there was found to be a problem. Think he was taken aback that I wasn't necessarily thinking like that, just need information. It's very hard to think clearly if you don't have definite views on the subject. Think it is relatively "easy" for men to think you should terminate if there is a problem.

Was the 1 in 3 result from just the scan or combined with blood tests? These can change the result either up or down. I had the just the scan, was happy with the results so opted not to have the blood test as well thinking if it skewed the results negatively I would worry more but maybe unecessarily.

Am glad Thomcat has posted here for you. Her posts have changed my views enormously about DS. Good luck

Sorry tallbird, thinking of you as well.

This must be such a difficult decision... I have been reading stuff from AIMS (Association of Improvement of Maternity services) on tests .... it's such a mine field! It does talk about errors in diagnostics too... and as such I wanted to share what happened to a doula colleague of mine.
She was supporting a woman (45years old) who after many miscarriages (13 I think) had finally made it to 37 weeks.... she had been told baby had either DS or Edwards and so she went for an elective section prepared for the worst (the dad couldn't bear to be in theater). Baby has neither !!!! Weighed 6lbs 6oz... The mother was very ill after the birth (very high blood pressure) and baby went to SCBU for 2 days or something but all are home and fine now.... Isn't life just amazing ?????