Down's Screening Test - 1 in 110 , cut-off 1 in 200. I'm 35y 10m - Amnio next? NT scan good. Very confused & upset. Please help

[mumtojennifer]

I had mu nuchal trans scan at 12wk and result was good, nice and narror.

Had blood test on Monday 24Aug. Doc phoned this afternoon to advise result is 1 in 110 risk of Down's.

I am 35y and 10m old and am currently 15wk2d pregnant. This is my second baby. I think I had test with first and was ok (I was only 32 then)

I am incredibly confused. Most information indicates that on their own the NT scan can identify about 75-82% of Down's babies and the blood test about 60-70% but that together thet predict about 92-95%.......but how can I work the maths from that when my NT is good and blood bad?

I have no idea what to do. I am booked to see my consultant on Tuesday next week anyway but between now and then I may go slightly mad trying to think it through.

Haven't called hubby yet cos want it straight in my head before I do.....

[ilovesprouts]

Sorry 1/250

[ilovesprouts]

I was /250

[Godsaveme123]

Hi ladies,
I am heart broken after i got à call from my doctor on 29th march to say that i am in risk 1:20for downsyndrome. I was told to take harmony test thé very next Day..i am 35years old my NT was fine.. But it was my blood result that put me to high risk... I am wait ING for my results probably by next week it Should Come.. I am so so scared that i dont Know where do i go ? Is there ànybody who got negative for downsyndrome with harmony with such à high risk.. I live in France... And its so difficult for me to talk to thé doctor in french as i am not native speaker... Àny kind of wisdom would be gratefully received....
Thank you x

[JoInScotland]

Hello,

I didn't have the NT as part of the 12 week scan (they didn't talk about it, if they did include that in it) and I went ahead and had the blood test which identified me as "low risk". I am 36 and will have just had my 37th birthday when our first baby is born in January. I thought I would be fine with a "low risk" outcome - that's what is in my notes from the counselling before the 12 week scan (our baby was actually 13 weeks then).

However, because I am over 35, I was a bit worried and when I had my 20 week scan, I asked if I could have an amnio. My partner and I met with a counsellor again, and I explained about my age being a risk factor, and that I just wanted to be sure. They booked me in straight away for the following morning. It really didn't hurt at all, and I am taking things easy for 48 hours as they suggest - no driving, no heavy lifting, etc. I laid down for several hours to read magazines and fell asleep in the afternoon yesterday. Today I had a warm bath and pottered around the house. I did have a few twinges in the uterus, as they said I might, but otherwise all well. The results came back today - no Down's Syndrome, Edward's or the third one they have a marker for. The extended results will take about 2 or 3 weeks to come through.

It was really straight forward and simple, and I hate needles! So I would say, if it will put your mind at rest, do it. My risk was 1 in 236 for my age but 1 in 381 for my health profile overall. I did think if I was that "one" and hadn't had an amnio, I might well never forgive myself. You have to make the choice that is best for you!

[Tinkerbell2008]

I am so sorry to hear you put in this position, i too was given news that my baby was 1/88 chance of being downs syndrome after blood tests and was very reluctant to have an ammnio as the reality of 1/100 of losing my baby was something i wasnt prepared to risk (of course everyone is different) and decided to just accept what ever nature threw at me as i would love my baby either way.

But of course the nagging part of worry in my mind was of course still there (to be honest i was still petrified) so i asked my midwife if i could have a detailed scan, something that isnt offered as freely as it should be and of course carried minimal risk if any at all, i went ahead and the scan was carried out by an experienced consultant who told me he could see no problems at all and that everything seemed normal, he then tripled my chances from the 1/88 to 1/264.

I was more than happy with the result and it layed all my fears to rest. It was so indetail he could see what sex the baby was and i was 16 weeks!!

I went on to give birth to my very healty baby girl who had no problems at all and she is now nearly 3 years old.

Bloods are not a reliable form of screening and cast worry without the need.

I hope this helps and that everything works out for you x

[Jasmine1111]

I had the blood test (they don't do the nuchal test here) and we were told our risk of downs was one in five.

As you can imagine we were petrified. We decided that we would go for the amnio - if our risk had been over 1 in 100 we weren't going to, because the risk from amnio of miscarriage is 1 in 100, although they do tell you that it's actually much less than that in reality because the equipment is much better nowadays. When our risk was so high we didn't feel we had any option, we wanted to be able to enjoy the rest of the pregnancy.

Anyway the amnio didn't hurt, just a bit uncomfortable, and I just did nothing for a full weekend.

We got the initial results on the Monday, and they were clear, and we were delighted. They then do some secondary tests to check for other chromosomal abnormailities - very rare ones - and two weeks later we got the all clear.

The week between getting the letter from the hospital and getting the results was literally the worst in my life. It was horrific.

Now I'm 28 weeks and baby is kicking away and I still can't quite believe it.

The blood test seems to be such an inconsistant indicator - any future pregnancies I wouldn't have it again.

Anyway, if you want to know any more about the amnio, or anything, just let me know.

Thinking of you xxx

[tinkerbellesmuse]

Just to add I would second what emmatrev said both about ARC being a great source of both support and information and the risk with either amnio/cvs. The drs have to advise you about the risks of either procedure but it is an overall risk rather than a person or hospital specific risk. The consultant who performed my CVS said she had performed literally thousands without any problem and whilst she obviosuly had to state the risk she was clearly very confident.

Bottom line is you really need to discuss termination with your DH - if you wouldn't go that route then absolutely no point having the test - just relax and enjoy your pregnancy.

Good luck

[Tillyscoutsmum]

Sorry you are going through this. My understanding is that an NT scan is much more accurate than the blood tests. There are so many factors that can affect the results of the blood tests - for example - if you've had any bleeding at all in your pregnancy , it can throw the results somewhat.

[cece]

I had a 1:50 result at the age of 40. I saw the consultant also and discussed the options. In the end I had no further testing as I was not prepared to terminate anyway so felt the risk associated with the amnio was too high.

That was my persoanl choice though and I was prepared to wait for the 22 week scan to find out more info.

[jardins]

On reflection I agree with Whomovedmychocolate: people who claim 'you may well miscarry' are not helpful at all. I understand those who want to be sure and consequently go ahead with the amnio. I have a fear of amnio mainly because every medical bod has felt it necessary to warn me of the risk this pregnancy. Of course if my risk had been more severe I would simply have gone ahead with it.

[QueenNeurosis]

I'm so sorry you find yourself in this hideous place. we had similar odds to you and I was distraught and yet the more I found out about the whole testing process the more angry I got. I decided that the best way for me to process the info was to remember that pregnancy carries a small risk. I took a test that served to prove nothing other that that my pregnancy had a small risk. Nothing I ddn't know already!

I decided not to have any further testing. There are so many undiagnosable (is that a word?) diagnosis that have greater challenges than Down's. We hung on until the 20 week scan (longest 6 weeks of my life) and took that as a clearer picture. My baby may still have Down's for all I know (due in 9 weeks) but baby will be absolutely perfect because baby's my baby. I know several genetically 'perfect' people who are so damaged because of their parents or circumstance etc.

Sorry that this is totally unscientific and probably offers little tangible reassurance but I will never have that test again!

[whomovedmychocolate]

I was given a 1 in 35 chance from the bloods but the amnio showed DS was fine. I have no advice for you other than to think carefully and go and talk to them, you should see a midwife counsellor first who will help you decide whether to have the amnio or not.

And if you are sure you want to test - just do it. Don't debate it with anyone, if you know it is right for you, don't even discuss it with people who will say 'well you know you could miscarry' - it's just not helpful.

[TJ34]

i have been told to avoid gassy foods. advice on what those are. i am 15wks pregnant

[freudianslips]

I have just had the NT scan and was specifically advised NOT to have the NHS blood screening at 15/16 weeks. This is because the NT is far more sensitive and specific than the 15/16 week tests. This means that the NHS tests generate more false positives, and more worry, particularly for women above 35.

VERY VERY importantly, you state that the NT scan with bloods is 95% reliable. That is only if the bloods were taken on the same week as your NT scan. The hormones measured in this test are PAPP-A and HCG. Your bloods were taken at 15/16 weeks and the hormones measured in this test are AFP and HCG. So although you can combine the results of the two 12 week tests you can't combine the results of the 12 week scan with the 15 week blood tests. I am disappointed that none of your health care providers has explained this to you. I hope that you get some reassurance from this - in your position I'd try not to worry about the recent blood test and just aim to get a good, detailed 20 week scan to look for any soft markers. In fact, if you wanted to get a private scan done now they probably could set your mind at rest about some of these soft markers already e.g. heart, stomach, presence/absence of choroid plexus cysts, brain ventricles etc.

Hope to help. Remember: you really can't combine the results for these two tests, and the test that you had first - and got the better odds for - is the more accurate test.

[ilovesprouts]

mine was 1-250 !!

[LilianGish]

Poor you. I've been there and I know that however much you tell yourself the odds of the baby being OK are greater than it being Downs all you can think about is the fact that it might be. In my case that meant I had to to have the amnio (can't remember my precise odds, but something similar to you at the same age) - that's what I'm like, I just have to know! I also had mine in France though the consultant at the hospital painted quite the opposite picture to the previous poster - he said "We have to tell you the risk of miscarriage, but I can tell you we have never had a miscarriage as a result of an amnio at this hospital." DD was fine and two years later so was DS - also had an amnio with him and couldn't wait to be called for it on that occasion as I found it so reassuring. Good luck whatever you decide.

[jardins]

Dear Mumtojennifer, I understand what you are going through and I hope to reassure you a little. I am currently pregnant with my third - having two very healthy children. I am forty years old. My nuchal trans at 12wk was really good: 1/344, which for my age was pretty wow and the specialist implied that with such a good score he would refrain from doing the tripple test. Here in France you are advised to meet a genetic specialist at the university hospital to discuss the amnio, states, etc, which we did. This was a totally confusing appointment. Although the specialist remained neutral I got the distinct impression she was urging me to do the amnio. I opted for the blood test instead and got my result back 2 days later: 1/189 - high risk. Now here's the confusing thing: my combined result was 1/1143. We had to make a decision re: amnio in 24 hrs based on 3 very conflicting numbers, which did not mean anything to me at all. It was horribly stressful. Fortunately my husband talked with the specialist who did the 12wk scan and he advised us to do a detailed scan at 18 wks, which still gave us a window for the amnio.

Yesterday I had this scan and the doctor was very reassuring. He even said 'if this baby's got DS then I'm changing jobs!' The point of all this is that we discussed the amnio and the triple test. He clearly stated that from 35 on a lot of his patients did NOT opt for the triple test because they knew their result would be bad. He also stated that although the stats were not published here in France FAR TOO MANY healthy fetuses were miscarried after a pointless amnio due to faulty triple test results.

Why don't you go for a 18 or 20 week scan? You will feel reassured. We knew this pregnancy was my last chance and we did not want to jeopardise it. However we were concerned about the impact a DS baby would have on our DC. (I hope this post doesn't offend anyone. Sorry. It's such a personal choice, isn't it and often based on fear and ignorance of the unknown.)

Please don't get too stressed. If the scan is done by a good specialist with excellent equipement it is 95% reliable. The specialist explained that the triple test procedure has not evolved in the past 10 yrs whereas the scan equipement has.

Good luck. Sorry this was such a waffly post.

[bevlin]

I haven't got time to read any other answers so sorry if this is a repeat. I had the nucal fold test privately (you have to pay in Edinburgh). Anyway she was very good at explaining it all which is what seems to have been missed with your appointment. Im 32 and the nucal fold average for my age (everything combined) should be roughly 1 in 620 and I got something like 1 in 540. I thought oh, why was that higher than it should be. Consultant said not to panic, that was just average and it was a good score and wouldn't recommend any further tests. She was very clear that I should not go for the NHS blood test for downs as the results can be very conflicting. NHS blood test is only something like 60% correct where as (as you said) the combined scan/blood/age etc is 95% accurate. Looking at the combined results are therefore more important than just the bloods. Id talk to the consultant who did your proper Nuchal fold and ask them what they think of that result and ask their advice.x

[Boober]

Also this is worth reading re the risks of amnio.

[bubblesincambridge]

Risk of Downs 1:110
Risk of amnio causing miscarriage 1:100

Possibly consider amnio?? That's the only way you'll know for sure.

[FabBakerGirlIsBack]

If you feel you don't want to have a baby with Down's Syndrome then you will have to have an amnio to know for sure.

[Themasterandmargaritas]

It's difficult to go through this. I was almost exactly the same age as you, with dc3 and was given a 1 in 10 risk.

We were not in a position to have an amnio due to where we were living and it would have been difficult to travel to a place where it could happen.

It helped to remember that the tests are not terribly reliable and that odds are just that, odds.

You could ask your consultant for a more detailed anomaly scan/regular scans to look for markers for Down's syndrome.

I suggest that you and dh need to think carefully what you would do if an amnio or scan revealed any kind of disability and what you would do, not just if the baby has Down's syndrome.

Fwiw, my baby did not have Down's syndrome.

[emmatrev]

I was in a similar situation - odds of 1/120 after combined test - I did find it agonising as they are really not bad odds but still within the high risk category so you feel you have to decide something. I wanted to post because unlike most others here I opted for an amnio after a lot of thought. I found the Antenatal Results and Choices helpline extremely helpful - their counseller I spoke to was very empathetic and also had plenty of experience and insight,I would recommend calling them to talk it through. I opted for the amnio in the end for the security of knowing but also mainly because all the research I did indicated that the risk of miscarriage is in fact much much less than 1 in 100 as long as the test is done by someone who does it a lot, ie someone at a fetal medicine unit at a large hospital. That is what the ARC advises. I also have to admit that I paid £450 at the Fetal Medicine Centre for Prof Nicolaides to do it himself, it seemed the best way to reduce anxiety (he does amnio and CVS himself there on Wednesdays). The result was normal and I did not miscarry and that is overwhelmingly likely to be the case for you too. There is a thread here under pregnancy specifically about antenatal results and choices as well, I think it is called that, that has links to some of the research on miscarriage. I don't think there's much chance of avoiding an anxious time for a couple of weeks but it will resolve itself, inevitably, at the birth it not before. The only way to be completely free of worry sooner is to have the amnio. Best of luck

[pea1]

Hello mumtojennifer

my husband and I had a difficult few days when i had my 13week scan...nuchal fold, etc all fine but bad blood result, which combined with my age (41) gave me a 1/35 risk. Felt v depressed for a couple of days, but then managed to get it into perspective ie 34/35 poss of everything being ok. I think it's important to remember that these tests are not diagnostic. Because we had tried v hard to get pregnant, we ended up deciding that we didn't want to have CVS/amnio and are just carrying on regardless. I have also been v heartened by hearing from a number of people who all had far worse odds than me ie 1/10, 1/5, etc whose babies have been fine. If you would keep the baby whatever, then you may not even want the test - or you may simply want to be fully informed. Either way, i know it's hard but try not to get too freaked out. If it's of any help, I am feeling fine about it now i've made a decision..it's the indecision that's the tricky bit i think. Hope this helps ...x

[tinkerbellesmuse]

I'm sorry you are feeling so confused it is must be a very difficult time for you.

My advice would be to talk with your DH and think very carefully about what you would do if your baby does have downs. If you would continue with your pregnancy then put it to the back of your mind and remember that there is a 109 out of 110 cance that your baby will not have downs.

I don't think it is terribly helpful to get too caught up with the maths (it is not accurate) and this may not be helpful for you but both my Nuchal scan and bloods showed very low risk but CVS confirmed my DS had downs. If you feel you need to know then the only way to be sure is to go ahead with the amnio or CVS.

Good luck and best wishes.