First Scan reveals high risk of Down's

[N1SEXYTING]

I went for my first ultrasound yesterday and the nuchal test revealed that I have 1:15 chance of having a baby with downs (it's usually 1:300 for women my age - 24)

They want me to come back and do another diagnostic test before i'm 14 weeks which is in 2 weeks time.

Is there anyone else experiencing this or have had similar experience

@Jimjams yes I have my mum, sister and close friends to help me through but after the test my mum was saying if the baby's going to have DS then I should serioulsy consider a termination. Plus she stresses so easily that I don't want her to come to the next scan with me.

The father of the child has decided he's not interested so I'm just leaving him to it at the moment but I did go to his parents this weekend to let them know the situation and they're very supportive also.

@how do i get referred to the Harris centre? and how long is the wait for the test. the midwife did mention me getting referred to guys i think for the heart issues.

I'm going to make a lot of calls and enquiries tomorrow before i make any decision.

Thanks so much everyone

When I lived in London (although south) I was just able to request Harris- might be worth asking your GP/midwife, they always used to be good about seeing anyone. Few years ago now though. Or ring Harris tomorrow and ask them direct.

Your mum sounds best avoided maybe

Good luck xxx

i like geekgrll have a dd with down syndrome. Unlike geekgrrl we knew basically before she was born that she had a heart defect as well as a very high chance of ds. In fact we were told that if she was born without down syndrome it would be very rare. Dd1's heart defect is very common amongst children with down syndrome. However her heart defect was repaired at 8 weeks old and her heart is now almost as good as new.

We were offered an amnio and chose not to have one. We were not concerned with the down syndrome. Dd1's cardiac surgery was carried out at the Royal Brompton - only cause that is the hospital that our local hospital worked with iyswim.

Her heart defect was detected at the 20 week scan and we were then referred to the Harris Birthright Trust where a fetal cardiologist gave us a fetal cardiac scan and a correct diagnosis.

The info that Geekgrrl has given you the link for is good info. I decided against an amnio simply because we had decided we would have the baby and did not therefore see the need for the amnio.

With dd2 - again i was given a higher than normal risk for down syndrome as they found echogenic focii in her heart. Again we refused an amnio - nothing anyone could tell us about down syndrome - it was our reality. I do know that other people in my position would have the amnio as they needed to know but for us - again she was our babe and we would not be doing anything about it.

I am now pregnant a 3rd time and whilst dh wants me to have a nuchal fold test ( am now turning 38) I am quite happy not to have one and know no matter what the risk comes back we will not be having any further testing apart from the 20 week scan.

Most heart defects that children with ds have are very common and whilst serious are still repairable. The one my dd1 has basically means she has no central wall in her heart to divide her four chambers as well as the av valve being dodgy. They simply put two patches in her tiny heart and repaired the valve. As she ages and grows the heart will grow around the patch. In terms of future surgery - she may need further repair to the av valve but that would be as a teenager if at all.

Sorry for the long post but I just wanted to share my story with you. We also decided we had a lot of stuff to deal with and people who were adding to our stress were toxic and we did not need them posioning our family life.

I would strongly recommend contacting the DSA UK - even just for someone to talk with. Dh found that really helpful.

Anything you want to ask - feel free. If you want to email me - edwali at excite dot com.

I was 33 when I had dd1.

just spotted the bit about heart defects - my dd also had a heart defect similar to eidsvold's dd (no central wall between her chambers, but her valves were all ok). It was a serious defect but repairable with a single, safe procedure.
Her heart was fixed when she was 7 weeks old and she is absolutely fine now, not even a heart murmur and is on 5 years between cardiology check-ups.

I feel for you and your Mum. Please don't let her push you in to a termination you don't want. At the minute you don't even know if there is anything wrong with the baby, and it doesn't seem clear that you have decided what to do if baby has DS. I feel for your mum as she sounds very worried but this is YOUR child and you will be responsible long after your Mum has left this world. Maybe you should ask her why she feels you should have an abortion? Your baby's other grandparents sound like they would like to be helpful and supportive and maybe you should ask your "MIL" to come to the scan with you?

N1

I was referred to the Harris Birthright Trust for my second child by my GP. Someone tipped me off as to what to say, which is to go to your GP and explain your are high risk and simply ask them to refer you. You have your scan result so they should refer you. After my GP sent the letter I got an appointment for the next week - probably about 7 days between GP appointment and Harris appointment. I would recomend either Harris or the FMC as they are both run by Proff. Nickolaides who is just about the world expert in these things.

Good luck
XXX

My midwife wants to send me to the University College Hospital as the consultant at the Royal Free is too busy. my GP's away but I'm going to try and speak to another of the doctors to see if I can get a referral to the Harris Trust.

@Fatfox where in london do you live as I live in North and the Harris is in South and I want to know if they take referrals from anywhere or if it is restricted.

N1

I live in west London, so its completely out of my area too, but they take referals from all over the country. The woman who told me about it also lives here. Its definetly worth chasing another GP to get a prompt referal. How many weeks are you now - 12? the nuchal scans can be done up to 13+6 weeks if you wanted to do the integrated nuchal/bloods etc test. To be honest, not many hospitals do the integrated test on the NHS, most offer one or t'other, although a couple do both. If you need to call the Harris Birthright Trust their number is : 0207-346-3040. If your GP won't refer you (shame on them) Harris (like the FMC) will see you privately. FMC are incredibly efficient and more or less let me choose my own appointment time. I understand that Harris also have a system where you can call at 10am each morning to find out if they have any cancellations that day.

Good luck with it - you've got a lot of information from mumsneters to sift through!

I was living down in Essex - southend - mouth of thames river and was referred to HArris Trust so I imagine they would take people from lots of places.

N1 just wanted to add my support to these messages.
My sister's DD has DS and is such a wonderful girl. We wouldn't be without her. But I do understand that this is a decision for you.

Just use the advice on here and get all the information and support you can. Good luck and let us know what happens.

Just wanted to say that if you have an NHS CVS taken in the North London area you will still get the 2 day result specific for Down Syndrome..pretty sure the same happens for South London hospital trusts too.
Good luck.

Good luck with all your decisions N1

N1 been thinking about you since I posted.

My sister?s nuchal scan gave her a risk of 1 in 1500 btw so we have never felt it?s a very reliable test. However 1 in 15 is very high. If you think you would terminate for Down?s, then I would have the diagnostic CVS test. As others say, the risk of miscarrying is much less if the test is done by someone very skilled.

I also wanted to add that although you either do or don?t have Down?s, the degree of special needs it brings varies enormously. You may know this already from your work but I never realised before my niece was born. She is 6 now and is in mainstream education (with 1-1 support), toilet trained for years now, walked at 20mo IIRC, talks well, learning to read and write. Plus she is the easiest child to look after. Her NT brother is much more challenging!

Hi N1SEXYTING -

Sorry I've not replied sooner but literally just seen this.
I think you have lare4ady been given loads of great advice so not sure what else I can say.

Perhaps I can just tell you a bit about Lottie?????

I was 30 when I fell pregnant with my DD1. She was born 4.5 years ago and has Down's syndrome.
It was a huge surprise to us all. I bonded with her straight away but was still kinda waiting for my world to crashing in around me. It never did. The support was fantastic, not just from friends and family but that was amazing. We all became closer and it bought us altogether in a really wonderful way. But the NHS support was also fantastic and I felt very lucky.
As a baby there was nothing very different about her, other than the fact that she was treated like the most precioius, amazing, wonderful baby by everyone who came into contact with her. She was such an easy baby. Never really cried, went from 11pm to 7am when she was 8 days old, it was bliss and still is. I felt sorry for people whose babies didn't have Down's syndrome!

I now have a DD2 who is 8 months old. She doesn't have DS and so far doesn't seem to have any special needs. I say that N1 becasue there are never any guarantees in life. All the parents whose children are autistic will tell you that. They didn't realise for some timethat their babies weren't quite what they seemed . Prenatal testing can only detect chomosome abnormalities. Being clear of these doesn't guarantee you a child without special needs and I think that is something to think about. There are many many mothers who use the special needs section of mumsnet and only a small handful of us have children wioth Down's syndrome.

Anyway, .... it's not always easy, it's hard work, but that's being a mum for you. Having a child with special needs has it's own special set of challenges but the rewards are second to none and you no matter what you put in it'll never compare to what you get back.

Thre are far, far worse things than having a child with Down's syndrome. I'm so, so pleased that I have Lottie in my life. Being a mum to a child with special needs has changed me and others, for the better. If I had a £1 for everytime someone has said to me 'ohhh I'd have 10 of Lottie'. She's a great kid, really great. She's also bloody hard work, cheeky, naughty, strongwilled, stubborn, hysterically funny, cute as a button, loving, and sweet. The world, or our samll chunk of it, is a better placve for Lottie being in it. And that's a fact.

Sounds like the road ahead of you is gonna be a bit bumpy, but keep in mind that whatever life throws at you, it all comes out ok in the end. I t really does.

I live in Pinner, near Harrow, Wembley, that neck of the woods and mean it most sincerely when I say that I'm here if you need me. If you want to meet up, want to chat more privatley, anything. Just ask for me on mumsnet and if I don't see it someone will let me know and I'm there. Okay?

Thinking of you. Hope you come back and chat more about stuff. Just be as open as you can be. You'll only find support here, no-one here will judge you whatever it is you end up deciding is right for you.

TC x

N1Sexyting, there are other diagnostic screening non-invasive tests available to you which can further adjust your baby's risk for downs, short of a CVS/Amnio. It may not be available at your hospital but certainly I know Kings College Hospital in S.London do them - can you get a referral from your hospital? They include blood test, more details scans of the baby's heart, size, nasal bone using superior machines.

Whilst there is a risk of miscarriage with CVS/Amnio, the only advantage is that they are conclusive as to downs and any other major chromosomal defect. Those screening tests just adjust your risk percentage but do not eliminate risks. But you might want to consider those before going the CVS/amnio route

My nuchal with dd came back higher than normal risk too
I had bloods and detailed anomaly scan and they ruled out Downs.
As it turns out my dd was born with Noonan Syndrome the 2nd most common syndrome outside Downs.
No amnio would have picked this up nor CVS

And like Thomcat, my dd (now nearly 4) is the child everyone wants one of, I am pregnant again and my eldest child is 12, a gifted and talented student, a handsome and lovely boy. But we always say we want to clone dd as she is just the most affable, smily, comic and delighful child in the world
I would change her having Noonans for the world.
I just wanted to let you know that there are positive stories out there

Just skimmed the rest of the thread. Kings College Hospital in S.London is the same as Harris Birth Right - NHS. The private equivalent is the Fetal Medical Centre.

I wouldn't change her having NS for all the world

How's it going N1?

I was just thinking the same thing. Are you OK?

I was 25 when I had a CVS with DD that was nearly 7 years ago and I had to have another one with DS in 2004. Both of my results were high for my ages and both under 1:100 or I wouldn't have had the CVs for fear of losing the baby.

I had both of mine after my 12 week scans as this is the time I thought you had to have it but I though you had to have CVS before 14 weeks.

Where abouts do you live? Can you get referred to Kings College in SE London, its where I had both of mine and they are a fantastic facilty. They may do a scan and get your results as something completely different to that of the hospital where you had the scan - and even if the results of the CVS come back fine they will follow up the CVS with lots of other scans for heart defects and other abnormailties.

The first set of results took slightly longer than the second because I had the one with DD the night before Millenium new year and the one with DS took 5 days to come back.

Hi ladies

Sorry I've not been here in a while, well had my test today, kept me waiting for about 2hours and let ladies who were after me go in before so that got me upset and riled up a bit before the test.

But the consultant was very nice and reassuring during the scan and pointed out things to me which the doctor at Royal free didn't do.

Then she tells me that their test is showing the baby to be at a normal range. The measurement last week was 3.8 -4 but today it was 1.6 and she measured it from different angles! She said as my first scan was only a week ago there shouldn't be such a big difference between the results! So she advised me to have the combined test which is 90% accurate instead of risking a miscarriage with the CVS when their results is coming up normal!

I will get my blood test results by Tuesday so if its positive then they'll invite me back for the cvs.

I'm at the point where I'm serioulsy thinking even if the blood test shows high risk I'm just not going to bother with the cvs as I'm so scared of miscarriage as I'm keeping this baby DS or not!

I'm feeling a bit relieved at the moment but then a bit peeved off at the same time as its like I had prepared myself for the cvs test and then been told that I'm coming up as normal but yet its still not 100% accurate is still very stressful.

But I'm so greatful for all you ladies and your support and encouragements. I couldn't have gone through this week without your different stories

Glad you got reassurance and clarified your thoughts on this. All the best for the rest of your pregnancy

N1 - that is fantastic news. How on earth did the first sonographer come up with that measurement? 1.6mm is a very good measurement. The combined test sounds the way to go...Don;t blame you not wanting CVS.