1 in 2 chance of Downs

[nicki70]

Hello Girls,
Just wondering if anyone can offer any support. I was given 1 in 2 chance of my baby having Downs Syndrome at my 12 week scan (I was actually 12w4d), my Nuchal measurement was 3.7mm & after having my bloods done got the dreaded 1 in 2... I'm 40 years old.

This is my 1st pregnancy after 3 rounds of IVF & naturally we're very worried (devastated). We've already decided whatever the outcome we both definately want to keep the baby, but just need to know now so we did an amnio yesterday & have to wait till next Thursday to get the result (10 day wait). In the meantime we were sent off to London to have a fetal echo of bubs heart & although the heart is normal thay could spot some 'bright spots' which could be nothing but are also soft markers for DS. Also yesterday they took a few measurements before doing the amnio & it turns out bubs femur bone is on the short side, so another soft marker. There is a very prominate nasal bone though.
I know it's not looking good but just wondered if anyone could sent me some encouraging words of wisdom? It's going to be a long long wait for the results.
Nicki xx

The birth story Cleona mentioned is here

Hi Nicki - just to add that the 2 soft markers you mention ('bright spots' & shortened femur) are considered very weak indicators of chromosome problems and I know that the femur one in particular isn't reported by many health trusts. I had both with dd1 at our 20 week scan, and the sonographer said the bright spots ('calcification') are seen with many babies and adults, and that she considers them variations of the norm. Out of interest I also had a high risk result (triple test), and 2 further 'markers' (hydrophrenosis and suspected talipes)and she was fine. I also think your attitude is brilliant and that, whatever the outcomne of the tests, you will be a brilliant mum .

They didn't even do the bloods for me as the nuchal was so high, we were sent straight for CVS. Everyone in the hospital were very dramatic too, very careing but also very negative. They also told me it's more likely bad news then good even it was one in 4 chances. You have 50% chance of all being fine, which is not that little when you think about it. I know the wait is the worst and makes you more and more negative each day, but if you have decided to keep the baby either way then you just need to let it be and enjoy it, nothing we can do about it anyway. x

Sending you all my heartfelt best wishes and support. Your baby is so lucky to have chosen you.

Hi Nicki,

Just wanted to add some words of support. I spent yesterday with my Down's SIL who has just celebrated her 23rd birthday. She is the most wonderful individual I know and certainly the glue in my husband's family. She's currently gearing up for being an auntie and I keep on being told that my bump isn't big enough (I am 15 weeks!). She tells EVERYONE that we see and will always give me a tap and a rub and ask when it'll start moving! Knowing her so well, I hope I can add some words of support.

I know that the immediate reaction is 'OMG' but so long as you prepare (as others say, groups are an invaluable lifeline) and have support, you will be fine. I know that it's only really now my SIL is an adult that my MIL is beginning to struggle - in terms of groups/college etc. But this is more because of my SIL's learning difficulties. People with Down's have varying levels of ability and so later in life you have to consider that. But saying that, SIL works in Starbucks once a week and is a popular sociable young lady.

As many other people are saying, you love your child regardless. 23 years ago my in-laws were almost bullied in to giving her up for a life in an institution, which they couldn't even contemplate. And despite the challenges, my SIL has certainly helped make their family so wonderfully loving open and affectoinate. Way more than my own family. And they all openly say that she's the centre of their universe.

I know that knowing her has made me less fearful of anything being wrong with my own bump.

All the best xxx

if you wanted more information you could contact the down syndrome association UK. We found them very helpful for information regarding down syndrome.

I have an 8 yo with down syndrome - we knew before she was born. She had a heart defect that was corrected with surgery at 8 weeks.

She is very verbal, bright, witty funny and adored by all who cross her path - seriously. She just brings you into her orbit.

That reading welcome to holland is so true. Dd1 attends school, swiming, dancing and goes surfing through the summer months.

The association in the UK is brilliant and able to answer questions as well as send out information booklets etc for you to read.

The only downside is dealing with ignorant folk who see dd1 as being less worthy than themselves of having a place in society, Who see her as a burden and in viewing her as such are blind to her potential.

Couldn't read and run. Just wanted to send you lots of love and support. I have no experience of what you're going through now, but DH and I went through 3 rounds of IVF, all of which failed, before accepting that my eggs were too scrambled to have my own baby, so I can completely understand how much this pregnancy means to you. Congratulations on getting this far and I wish you both much happiness with your new baby, whatever happens next.

Hi there

Having gone through two rounds of IVF in my 40's I can only imagine what you are going through.

All I can say is my younger sister was born with Downs. She is now 41. She is the most loving, amazing, beautiful being who is the backbone of our family. We all adore her - she is truly our family's blessing.

Whatever your outcome, please believe that you will have the perfect child.

No experience of this but just wanted to say congratulations on your pregnancy.

Whatever the outcome, it sounds as though you already love this baby and will give it the best you possibly can. Only you are the mother to this baby. Good luck with the results.

I liked the post about the plane trip. That was lovely.

Read this the other day, but was too lazy to post - I'm 23 weeks at the moment.

Just last month, I was also given a 1 in 2 chance of downs after a quad test and that week was one of the worst weeks of my life. Had the amnio and all is fine. The 20 week scan also was fine.

So, I've got everything crossed for you - know exactly what you're going through.

Try and stay positive, I know this is hard.

Take care

Thanks again girls!

I find your supportive posts invaluable & keep rereading them.

Stunned to see others who got a 1 in 2 too! My hospital told me it was unheard of...

And you're all right, I love this baby loads whatever their genetic make up, just like to be prepared.

Nicki xx

eidsvold can I just ask you a couple of questions? Your pregnancy with your DD is almost identical sounding to mine with DS (26 weeks PG now) and I read somewhere on another thread that you said that you didn't have the amnio (is that right) but that they found the heart defect and said that it would be very rare if your DD didn't have down's sndrome taking all the data in to account?

Well we're in the same boat and were given a 1 in 5 risk and at the 20 week scan they found a hole in the heart (VSD) and then 2 weeks later I was checked by a foetal paediatric cardiologist who diagnosed a partial AVSD. Can I ask what defect your DD had? We've been told surgery at 6 months and possibly there will still be a leaky valve that will need further surgery. I'm rather anxious about how baby will be before the surgery as we're told he will be short of breath and may have trouble feeding and not gain weight etc etc. Do you mind me asking you your experience?

remember dd1 had a complete AVSD which was repaired by surgery at 8 weeks old. Her av valve has a mild leak but at now 8 yo - her heart is almost like a perfect one and the cardiologist is saying that further surgery on the valve is unlikely.

Once she recovered from the cardiac surgery we had somewhat regular visits to the cardiologist - from about 2 1/2 and she has just had annual visits. The mild leak has not changed in 7 years.

The only precautions we have to take now is that she has to have anotibiotics before any dental or surgical work.

When they diagnosed dd1 in utero they said around the 6 month mark for her surgery - mainly to give us time to fatten her up and make her body optimal for surgery.

When she was born she was taken straight to ICU and put in a humidicrib. She was in ICU/special care for about 3 weeks before we got her home. That said - my placenta had packed it in and she was in a bit of a poor state when she was born. They did another echo after she was born to see exactly what state her AVSD was in. They decided to put her on the list straight away for surgery and as I said - she had her surgery at 8 weeks old.

She had a rocky time post cardiac surgery and it took three weeks again to get her home BUT she has gone from strength to strength and if you did not see the scar you would never know.

Because of the fatigue due to the heart condition - dd1 was on regular medication and regular monitored nasal gastric tube feeds. That helped her feed and put on weight without exhausting her. We had support from a paediatric community nurse rather than the health visitor. Dd1 was on 4 hourly feeds and as she gained weight the amount she was fed was adjusted according to her weight. That community nurse was able to be contacted at any time you needed them.

I would say watching her go through cardiac surgery was one of the hardest things I have ever had to do BUT I don't regret letting her do it. Her colour improved out of sight almost immediately. She was more alert and energetic. I was not able to breastfeed dd1 due to the fatigue but she never lost her sucking relfex despite the best intentions of medical staff to convince her to take a dummy. I expressed as well as I could and then just got on with it.

Anything else you would like to know?

Thank you so much for replying.

Was she on the heart meds just before the surgery or has she been on them since too? Also - were you able to breast feed after the surgery - I presume the nasogastric tube wasn't needed any more?

How many ops did she have at 8 weeks? Was her valve just stitched or repaired aswell?

How long does she have to have antibiotics for before procedures and what happens if it's an emergency procedure??

Sorry to ask so many medical questions. Your DD sounds fantastic and like she's done brilliantly. How did you know she had Down's before she was born?

prior to surgery - so for 8 weeks she was on diuretics to help with the fluid retention.

Post surgery - she had cardiac meds for about three months at the most from memory.

I was not able to breastfeed after the surgery - my milk never really came in and she had to have special formula due to an issue with her lymph system post surgery. That formula helped repair her system.

The took the ng tube out pretty much staight away.

Dd1 ended up having two surgeries - only because when they tried to bring her out of hthe medically induced coma - she had an episode and so they put her straight back under. When they went in they discovered that the patch they put between the ventricles had lifted. GIven that her heart was the size of her fist - and she was only just 8 lbs - pretty remarkable they could do anything at all. Her valve was stitched from memory with the view that she made need a further repair as a teenager.

Each time dd1 has had to have dental procedures or when she had her tonsils out - they just gave them to her in theatre. I have never had to given them to her prior to that. If it is an emergency - they would give them asap. dd1 has a special card that I actually have in my wallet but she will have herself when she is a little older that is like a medic alert card for that. We also make sure any medical procedures take place at the hospital where she is an out patient.

We found it very helpful to contact this group and I had a great chat with the lady who set up the group talking over the surgery etc.

here

We believed dd1 had down syndrome because we were told basically - given what they had seen on the scans and the very common heart defect - it would be incredibly rare if she was born without down syndrome. I think we would have been totally shocked had she been born without ds tbh.

IT was only a few years later when speaking with her cardiologist here in Aus that he told me our chance was 1 in 5. The way the UK fetal cardiologist was talking - it was a given.

Both my dh and I knew families who had members with down syndrome and so for me her cardiac condition was more concern that the down syndrome. We had seen it first hand if oyou know what I mean.

My dh did contact the DSA UK for information and they had some very good information they sent out to us. We found that helpful.

Just wanted to say Nicki you sound like you are coping brilliantly and I'm sure your baby will be beautiful and amazing whatever the outcome.

I also read Kellie Hampton's blog. Her daughters are so beautiful, as are her photos.

Hi, I have no idea if this will help, but I was given 1:2 odds four weeks ago, with a 4mm nuchal fold and crazy bloods. Im 28. 1:2 odds at my age, well, it didnt look good. We had amnio at St Thomas' fetal unit just over a week ago and they called 24hrs later to let us know we were clear for the main 3 problems. I couldn't believe it. Cardiac scan also normal and no other soft markers, but I have pcos and thyroid issues which can wreak havoc with your bloods, have also had hyperemesis which can be a bad sign, but everything is amazingly ok. I spent hours trawling mn looking for someone with a good outcome from 1:2 results; I just wanted to know it might be ok, and I wanted to tell you it can be. Please don't give up hope xx

Thanks again Eidsvold - you are being so helpful.

Can I just ask whether we can expect to recognise ourselves in our DS or whether the features of Down's syndrome override all other features? Also was it very obvious when you saw her at birth that she had DS? For some reason i feel rather anxious about feeling shocked when I see DS for the first time and i've also developed a fear that he will be still born :(. As we were about to leave the scan room last time, the consultant sort of mentioned in passing that they don't know why but some children with DS are still born and they really don't understand the mechanics of it but it does seem to be a feature. :( :(. I've also got my knickers in a knot about needing to be tested for strep B though I have no idea how to persuade anyone that that might be a good idea.

Hi there - have been following your thread and thinking of you.

I am going to test for Strep B - and this is actually a private test as the NHS don't offer it as routine so you don't need to persuade anyone. You get a kit and do it at roughly 35/36 weeks I think. My GP told me it was worth doing.

Remember HAve only just caught up with this thread and haven't read thru all off them but just wanted to comment on your post about the consultant, and how i think that was an awful thing to tell you just as you were leaving, I hope that you are ok,and not worrying too much, although even just typing that i know you are!! Best wishes xx

remember - our dd1 looks like she belongs to us although more her dad than me. She has light hair like her sisters although they have their dad's blue eyes and she has my hazelly green eyes. She is built like her dad - scrawny with long legs and no bum.

I could not see the ds when she was born - having said that - we wer ebeing closely monitored for growth due to the heart condition and 10 days prior to dd1's edd we were having a routine scan when they realised she had not grown, and that I had lost amniotic fluid and so she was at risk of infection and so I ended up having an emergency c-section due to poor dopplers and failure to grow.

She was taken straight to icu for them to check her over and see how her heart defect was going. I got to see her and they brought me a photo. Dh got to hold her.

We can see family resemblance. Dd2 and dd3 like almost identical up until dd3 was about 12 months old and now she looks more like dd1 than dd2. Dd1 has my dead straight fine hair.

Are you now under consultant care due to the heart condition? I was moved to consultant care at 24 weeks when they detected the heart defect. We were also given a tour of NICU(special care) so that it was not too much of a shock for us when the time came.

Oh that's lovely to hear and I would so love DS to look like us a bit, like the other 2 do but in different ways. Individuals and all that!

Yes we are under consultant care and have another scan booked at 30 weeks to check the heart plus everything else in general. i don't know what happens after that - I guess they will tell us then.

The said that birth wise it should be 'as normal with no additional risks' and baby shouldn't be poorly etc but I guess they will give him an echo plus any other tests they do and come up with a plan then.

Were you tested for strep B at all? It seems sensible to me to be checked as any kind of infection is such a disaster if there is a cardiac defect.

no I wasn't tested for strep B but from memory it was not done when dd1 was born over 8 years ago.

as to the birth - that is what they said to us - the birth could be as straight forward as any other birth. However my due date was changed about 3 times and we think she may have actually been late rather than early - it was my placenta that packed it in rather than anything to do with her.

I was able to have dd1 in our local hospital.

Hi nicki, congratulations and I just wanted to add my positive story. ds2 had a very high nuchal fluid level of 8 mm at his 12 week scan. we had no nasal bone showing and i think they said it was a 1 in 2 chance of downs and other syndromes such as patau etc. i had a cvs and the results came back clear and then scans every other week to check his progress, including heart scans at great ormond street. The fluid receded over time and no problems were ever found. he was born a month early, small but perfectly formed. good luck, hope all goes well for you.