1:34 chance of Downs

(56 Posts)
Sahkoora Thu 17-Apr-14 09:02:32

Had 12 (though was 13+1) week scan on Monday and got an NT of 3.6. They rushed bloods through and yesterday I was told I have a 1:34 chance of Downs. I'm 36.

Hospital trying to get me a quick appointment for a CVS, but thanks to the bank holiday, it's looking as though I will have to wait until I'm 15 weeks for an amnio as I will have to travel to London.

I need to find out fast, as DH and I have decided we would terminate if the test comes back positive. DS1 has ASD and we have had hideous struggles getting him anything. As parents we've had no support, and the though of caring for a severely disabled child for the rest of our lives is too much.

Just wondering if anyone has had similar odds and also what the tests are like? I hear varying reports about it hurting etc.

Allthegoodusernamesaretaken Thu 17-Apr-14 11:22:49

Hi Sahkoora,

Sorry to hear you're going through this. I also had a high nuchal measurement and my combined result was 1:20. My DH and I were in shock but agreed we would also terminate if chromosomal abnormalities were confirmed. I felt guilty but like you, I don't think I could cope in this situation. In any case, nobody has a right to judge.

I had CVS as I would have had to wait until later in the pregnancy for amnio and we wanted to know sooner rather than later.
The procedure was over very quickly and was uncomfortable rather than painful, although my abdomen was quite painful soon afterwards and I found it difficult to walk. That wore off after about 20 minutes and for the rest of the day I just felt a bit delicate but it was not too bad. For me, the pain and discomfort was a price I was definitely willing to pay to get a definitive answer. Luckily for us, our results came back clear. I think the waiting was the hardest part.

Although the miscarriage rates for CVS are supposed to be 1 or 2 in every 100, the consultant told me this is more like 1 in every 500.

Please let me know if you have any other questions. I hope it all works out ok for you.

LillianGish Thu 17-Apr-14 11:31:38

I had an amino with both mine - I don't remember my precise odds, but combined with my age I was advised to have one. Worked myself up into a right state before the first one and it was such an anti climax I actually hoped I'd have to have one second time around. Try not to worry about it - the odds don't mean much really - your baby is still more likely to be ok than not. Like you I absolutely wanted to know and the peace of mind afterwards was great. Good luck.

Teaandtoast1 Thu 17-Apr-14 11:38:20

I have 1:5 odds but have gone for the private blood test as I don't want to risk the amino. It's £295 where I am so I've gone for that. The waiting is hell though I won't lie.

Hope you are ok x

minipie Thu 17-Apr-14 12:20:53

I had a 1:42 chance of Edwards and Patau and a 1:102 chance of Downs. I had a CVS which thankfully came back negative for all 3.

The CVS itself was ok - it did hurt a bit, when I was stabbed with the needle, but not otherwise and not afterwards. They show you the heartbeat on the screen after the CVS/amnio - if the heartbeat is still there then the chances of MC are much lower.

It's definitely worth travelling to a big city hospital for a CVS or amnio as they do them so much more often and the MC rates are much lower than the quoted 1 in 100.

If you can go private, the Fetal Medicine Centre in London has a great reputation.

The Harmony or NIFTY blood tests are another option available now - I am not sure if these are available on the NHS, I think a few hospitals offer them if you have a high risk result but others don't. Could you pay for this? They are 98% accurate I think.

SoonToBeSix Thu 17-Apr-14 12:29:49

I have a child with autism I understand the lack of support it is very very hard. I wouldn't class Down Syndrome as a severe disability though have you spent any time with children who have Down syndrome?

PrincessBabyCat Thu 17-Apr-14 13:01:22

Obviously modern medicine has come further from when I was born, but when my mom was pregnant the tests came back positive for downs and I was born perfectly normal.

Don't feel guilty. My husband and I already agreed before any tests that if there were any genetic defects or serious health issues with the baby we'd terminate. Not everyone has the ability to care for a disabled person.

Sahkoora Thu 17-Apr-14 14:24:53

Thanks everyone. Think I have an appointment at the Norfolk and Norwich hospital for a CVS on Tues. Just waiting to hear back with a time.

Anyone had their CVS there?

MrsPixieMoo Thu 17-Apr-14 14:26:50

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

Poshsausage Thu 17-Apr-14 14:33:22

I understand your confusion . We had the same result recently . But. , prior to that anomalies were picked up on the scan , he was small and had hydrops .so we were referred to uch who were brilliant and had a detailed scan . Picked up heart problems too . Consultant advised and counselled us and as we had another twin in there to consider , as well as two other children one with serous health problems , we terminated there . They took samples cvs . When I got home I got my nich blood results 1:30 for downs . But it turned out the cvs picked up a chromosomal abnormality as suspected and it had an 18q deletion .we have done the right thing . Other twin is doing just fine and I'm 22 weeks today . Had genetic testing also and all is ok .
Was anything picked up in scan ?
Hospital will advise you and have a good look at baby . Procedure was fine but I was sore and went to bed for the rest of the week . It's been a roller coaster.
Hope all turns out ok for you, still high odds that all is well .but good to discuss these things too .

NightCircus Thu 17-Apr-14 14:33:34

What a horrible thing to say mrs Pixie

Allthegoodusernamesaretaken Thu 17-Apr-14 14:38:42

Really unhelpful comment, MrsPixieMoo. The OP has posted for support and reassurance, not criticism.

Unless you have been in this position yourself, you cannot possibly understand how she might feel right now.

For me, this was not about wanting a 'perfect' baby. It's about being able to give my child the best life possible. I am a practical person and I know my own limits. In my heart of hearts I know I would not have been able to cope.

Fortunately, my CVS results were clear but that didn't mean I didn't cry solidly for 3 weeks at the potential prospect of terminating my very much wanted baby.

MrsPixieMoo Thu 17-Apr-14 14:38:44

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

Wishfulmakeupping Thu 17-Apr-14 14:41:37

Reported that comment pixie- OP wants support not to start an ethical debate

madwomanbackintheattic Thu 17-Apr-14 14:42:06

sahkoora - fingers crossed everything goes well for Tuesday.

As a matter of interest, it is far far easier to get support for children born with disabilities such as Downs/ CP than it is for social communication disorders etc that show up later and can be misinterpreted/ are up for some sort of debate during the diagnostic process.

We were discharged from hospital after birth with a full complement of therapists and community support, and received hr dla from 6 mos. there is much less fighting for support in this instance.

I am not trying to change your mind at all - we all rightly make our own decisions and you have made yours, which needs to be supported, but thought I would post in case anyone is going through similar in the future. It's such a hard decision, and especially for families already bringing up a child with sn, there are all sorts of other factors at play. Good luck xx

MrsPixieMoo Thu 17-Apr-14 14:42:14

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

picnicbasketcase Thu 17-Apr-14 14:46:03

I imagine it's because the OP hadn't said anywhere that she thinks 'people with Downs shouldn't be alive', but that her choice for her family might be to terminate. Try to have some compassion for someone in a horribly difficult situation.

MrsPixieMoo Thu 17-Apr-14 14:50:21

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

SecretWitch Thu 17-Apr-14 14:55:54

MrsPixieMoo, how dare you use this thread to grind your axe! If you feel strongly start your own thread, but please leave this poor pregnant woman alone. To try to shame her is beyond disgusting.

Poshsausage Thu 17-Apr-14 14:57:22

Message withdrawn at poster's request.

Poshsausage Thu 17-Apr-14 14:58:17

Phew . Please remove my one above too as it refers . Don't want any distractions on this thread

SecretWitch Thu 17-Apr-14 14:59:09

OP, I'm sending good wishes for the most positive results. I wish I could be of more assistance but I'm out of the pregnancy business. Xx

Allthegoodusernamesaretaken Thu 17-Apr-14 15:34:16

Just wanted to add - 1:34 means there's a 97% chance that your baby is fine. Those are pretty good odds.
Thinking of you.

WipsGlitter Thu 17-Apr-14 15:40:44

Hi, I have a child with DS, as someone above says its not the end of the world, but I can see how with your other child's ASD its a daunting prospect. One of the things I've always though about my child having DS was that it was 'easier' than and ASD diagnosis; we knew from birth he had it so no 'do you think...', there is a well trodden path of care so no fighting to access services or a diagnosis, it sounds terrible but my expectations of him are realistic - I want him to be happy and fulfilled as a child and adult so no stress about trying to fit him into the mainstream world, he is who he is. We know what most typical children with DS can achieve.

Sahkoora Thu 17-Apr-14 16:06:58

Thank you so much everyone. Luckily I missed the nastiness. I'm surprised actually, read through a few dozen threads on here before deciding to post and didn't see anyone being anything but supportive to people who made the decision to terminate. It was one of the reasons I decided to post.

Reading my OP back it does sound quite dispassionate. I think I was in shock yesterday, I'm really sorry if it sounded as though we had come to our decision lightly. We really didn't.

We have two DSes and if this situation had happened in either of my previous pregnancies, our decision would have been different.

Right now, this is the only decision that feels right for us, and I have no doubt that if it comes to it, it will be horrendous. I fully expect it to have a lasting impact. It will be something I live with for the rest of my life, and I am sure there will be many times I would regret it.

Even if we are lucky and there is nothing wrong, I am sure I will feel plenty of guilt towards my baby.

Poshsausage Thu 17-Apr-14 16:16:12

You do what is right for you and your family it is no easy decision at all wishing you lots of luck for good results x

minipie Thu 17-Apr-14 16:32:48

Personally I don't think you should feel guilty, whatever the outcome. You are doing the best you can for the whole family, and just as nobody else should judge you, you shouldn't judge yourself.

Fingers crossed you get the all clear (as a pp said you have a 97% chance smile).

Sahkoora Fri 18-Apr-14 11:05:16

Thank you. I'm feeling a bit clearer today, trying to focus on the positives. I can't tell you all how much your support has meant.

Reading everyone's stories has given me a lot of perspective, good outcomes and bad. Thank you everyone for sharing them. I'm sorry if I seem a bit vague, I really am struggling to write anything down about this, but I want you all to know your support is appreciated.

Hope26 Fri 18-Apr-14 18:28:48

Hi all.

Last Wednesday I got given the worst news of my life. This is my first pregnancy and they detected NT at over 3.5mm. The ultrasound scan at 13weeks 5 days showed the baby had a flat face, couldn't see nose. They told me the baby will not survive and it looks worse than Down syndrome. I have been asked to come in the next two weeks for an amnio test to confirm what is going on. Anyone experienced the same thing? Any advice will be very helpful. I am so confused right now and have lost my appetite completely. Thanks

minipie Sat 19-Apr-14 18:35:55

Oh hope, so sorry to hear you have had such worrying news. I have no advice I'm sorry, but I hope you can get more information quickly so you can come to a decision. if you start a new thread of your own you may find people with similar experiences more easily.

Hope26 Sat 19-Apr-14 18:57:08

Thanks Minipie I think I will as when someone says to you your baby has got a condition worse than Down syndrome it's unbelievable.

Sahkoora Sun 20-Apr-14 10:15:35

Hope, that's awful. My heart goes out to you. There are so many kind people here who know so much. Hope you get support and strength.

legalalien Sun 20-Apr-14 11:10:35

Hi Sahkoora

I had a pregnancy with a 50/50 risk, with no option but to terminate if the dodgy gene was present as the pregnancy would not go to term. Like you I was originally scheduled for CVS, but when I turned up the pregnancy was further advanced than I had thought, so decided to come back for an amnio instead.

The amnio itself is not painful but I found it quite stressful, once you are pregnant I think you instinctively feel panicky at anything going near your baby (especially when you see the needle going towards it on the screen). I went on my own, which in hindsight was not a terribly good idea (fortunately a kind nurse who had just come off duty sat me down with a sugary cup of tea for 15 mins afterward).

The thing I found hardest was that I found it very difficult to bond with the "bump" until I got the test results back (after various problems with testing - not a standard test - at about 24 weeks). I think that plus the stress of worrying probably contributed to my mild PND, just something to be conscious / aware of. For that reason I'd probably opt for whichever test will give the speediest results.

I hope it goes well for you.

LBNM19 Sun 20-Apr-14 13:13:45

Hi just wanted to post and say I had a 1 in 4 chance of my baby having a genetic condition and the CVS results come back fine.

I no how worrying the wait is but as someone else said your chances are very small.

I also would have terminated had my results been bad, I completely understand.

Really hope your results are good xxx

Sahkoora Wed 23-Apr-14 06:47:44

Had the CVS yesterday morning. All went well. I have an anterior placenta so it made the procedure easier. It felt very strange but didn't hurt. Oddly enough it reminded me of a smear test.

Everyone at the Norfolk and Norwich were lovely and we were seen as soon as we arrived. Consultant did a scan and couldn't see any further evidence of chromosome problems, but didn't measure the NT again and said that at 14+2 it would be too early to see other markers.

I'd had a bit of spotting earlier that morning so he offered a chance for me to come back, but as this is not unusual for me in pregnancy I declined. I really couldn't have waited any more.

Afterwards I felt fine. Very minor cramping and a bit tired, but they showed baby's heartbeat on scan. Poor DH had a bit of a funny turn during the procedure, he's not slept or eaten well over the past week and I think it all got a bit much. He's not normally squeamish at all!

They will phone me in 2-3 working days with results. If all fine, next step is heart scans, so not out of the woods yet. Just taking it one day at a time and not thinking about it too much.

Thanks for all the support and handholding.

Hope26 Wed 23-Apr-14 10:04:16

Hi Sahkoora

I'm glad it wasn't as. bad as you expected. Hope you great the all clear from the test results. I will be going through exactly what you are experiencing next Tuesday when I have my amnio. then the wait for the results. All we can now do is pray for the best. Whatever decision we make will be in the best interest of our babies. Take care x

flipchart Wed 23-Apr-14 10:09:03

Hope you are ok

I take issue with the poster who said I wouldn't class Down Syndrome as a severe disability though have you spent any time with children who have Down syndrome?

Things aren't that black and white.
Some Downs syndrome people I work with have a low level of disability others have more complex needs.

Hopefully you will have the result you want but I wish you well what ever the outcome. You have a lot on your hands.

Sahkoora Sat 26-Apr-14 15:09:21

Hello everyone, just wanted to update and tell you we had the preliminary results back on the CVS and thankfully baby does not have downs or any of the other trisomies. It's also a boy, which will be DS3 for us!

Can't believe it, was very prepared for the worst. Still looking at heart scans in a couple of weeks and don't have the full karotype yet, but feel as though we have our baby back.

Thank you so much for all the love and support. It's been beyond helpful.

Clargo55 Sat 26-Apr-14 15:22:37

That's great news.

Wishing you lots of good luck for the heart scans thanks

mrssmith79 Sat 26-Apr-14 15:28:54

Glad it was good news OP thanks

jenwa Sat 26-Apr-14 16:44:52

Glad you got your results and all good. I posted something similar a few years back and had quite a few unhelpful and hurtful comments which made me stay away a bit. It's been nice to see you have a lot of support with this (apart from one!). It a worrying time waiting and hard to process any thoughts etc. Glad all is ok for you.

Hope26 Sun 27-Apr-14 15:18:35

So happy your results came back clear! Now enjoy the end of your pregnancy and do let us know when your baby boy comes! x

Sahkoora Mon 28-Apr-14 08:20:39

Thank you everyone. I'll be here watching and hoping for everyone else. Going to ring my local hospital today to book the heart scan. Hoping that even if it points to a problem it will at least be a fixable one.

Thanks again smile

Hope26 Mon 28-Apr-14 23:27:41

Didn't need an amnio today. Baby had no heartbeat. It's gone to a better place, thanks for all your support and I pray all your pregnancies go well and you all have healthy babies! Much love xxx

Sahkoora Tue 29-Apr-14 12:58:48

So sad for you Hope, been thinking about you all this morning xxx

Hope26 Tue 29-Apr-14 13:05:00

I'm going to the hospital now to see what options they give me in terms of removing my baby. Scary thought but I have to do it. I'm so happy for you and please keep me updated on when your baby comes xxx

Poshsausage Tue 29-Apr-14 15:50:54

Hope I'd suggest starting a thread if you haven't already so you get the support you need at this difficult time

So sorry :-(

Sahkoora Wed 30-Apr-14 14:59:10

Just had a call and have been booked in for heart scan next week. Have been so relieved about CVS results but now I'm worried again. Has anyone had heart problems detected on a scan after having increased NT?

What are they likely to be? How serious?

Poshsausage Wed 30-Apr-14 22:40:20

In all honestly yes , I posted my experience before up thread I think . Just wait and see what doctor says you will get a really detailed scan and they will take their time ..we had hydrops first ,sizing worries , then at the detailed specialist scan they said multiple problems including heart beat too fast and likely cleft palate all indicating chromosomal problems we decided to take their medical advice and terminate as we had a twin to consider and could end up losing both . They took a sample of cvs when they did the procedure and called me couple days later to say not downs or Eduards etc so that confused us and we then felt guilty . But two weeks later we got the choromosal results saying there was a deletion so it confirmed everything for us . We have since have genetic testing to see if we are carriers (18q deletion) and I'm case other twin was at risk but he seems fine and healthy and we are clear

So not straightforward , it's a difficult shocking emotional roller coaster of a time that's for sure .

Hope it all comes out with good results for you

Sorry if my news wasn't helpful but these things happen I guess now and again . Hope all is well for you keep is posted x

Sahkoora Thu 01-May-14 09:39:02

Don't apologise Poshsausage, I'm a person who likes to know all possible outcomes so i can be mentally prepared if the worst happens. Thank you for sharing your story. I'm glad it has a happy outcome for one of your twins.

I don't think we will be getting full chromosomal results from the CVS as they said the sample they got was too small, but they didn't seem to think it was a big problem and haven't asked for a repeat or anything.

The only indicator they found at the 12 week scan or the scan at the CVS was the increased NT.

Did some googling yesterday and it seems at though it could be an indicator for a wide variety of heart problems, from very serious to very minor, or indeed none at all, so it's just wait and see.

Unfortunately DH can't get the day off work next week so will have to move the scan to the week after. I really don't want to do it without him!

Poshsausage Thu 01-May-14 15:36:50

Yes def don't go on your own! I couldn't have done it without my husband and I thought of our wedding day during uncomfortable moments and it helped .

Treat yourself kindly the next week or so , try not to google too much . Glad we have all these facilities I've been absolutely blown away by everyone's professionalism and level of care I felt in very capable hands every step of the way . It's difficult but you will be able to make an informed decision soon . Really hope it is all good news though . Suck a shame these things eh . I was so lucky to be able to walk away with a so far healthy baby and felt blessed too .

Will have all my fingers crossed for you x

daluze Thu 01-May-14 20:44:49

Our experience is a bit similar to yours. On 12 weeks scan the sonographer detected two abnormalities related to blood flow, and although NT and bloods were normal, they gave us a whopping risk of 1:7 for Down syndrome. Fast forwarding, CVS and karyotype were clear. We had additional heart scans, however everything resolved by 20 weeks scan. Now my not so little anymore cheeky boy is 16 months and he is perfectly healthy (except for all the bugs he brings from nursery!). It is a very stressful time to wait for results and scans, and my thoughts are with you. When I waited for a heart scan, I was thinking, whatever it was, it was likely to be fixable. Fingers crossed you don't need even that!

Sahkoora Mon 05-May-14 11:33:13

Thank you, daluze, that gives me a lot of hope. Part of my brain keeps trying to convince me that there must be SOME reason for the abnormal NT, I keep preparing for the worst but hoping for the best.

I'll keep you all posted when I know more.

Hope26 Tue 05-Aug-14 23:37:59

Hi all

Just an update since I created this thread. Today I got the results from the baby's tissue, it was a boy. My son. They confirmed he had trisomy 13 - patau syndrome.

I had a mmc and D&C in April.

I am now 7 weeks pregnant and worried however there is always hope and never give up. hope my experience helps anyone who is in need of advice.

Take care x

fanjobiscuits Tue 05-Aug-14 23:52:11

So sorry Hope26 flowers

minipie Thu 07-Aug-14 19:58:40

Ah hope so sorry you went through that. Best wishes for your new pregnancy smile

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