High Downs Syndrome Risk

[Vander]

Hello all
I'm 19 weeks p/g and was recently given my Downs Syndrome Risk over the phone by community midwife (results were high but not ridiculously so - 1:130).
An apt was made for us at the hosp to discuss what could be done (i.e amnio etc.). My husband and I have opted to do nothing at the moment and to wait for our 2nd scan (in 3 weeks time). I know that they can tell you a bit more at the 2nd scan and that if they don't detect anything then it halves your chances again (although not a much better result, obviously better than my first one).
We're very confused about everything. The thought of having an amnio is causing high emotion although I'm not sure I can enjoy the rest of my pregnancy not knowing about our unborn child. It's not as it p/g women don't worry enough as it is?
If anyone has been in the same (or similar) situation could you let me know how you handled it? Thanks a lot!!

No experience of this, but think that being told over the phone is a bit crap, you have a lot of waiting to do, hope it works out for you in the end.

No direct experience but I know this website has provided a lot of help for people in your situation:

Antenatal results and choices

Wishing you lots of love and luck for a happy outcome.

The risk of bad side effects from the amnio is something like 1/100 - so the chance of something bad happening to a perfectly healthy baby because of the amnio is higher than the risk of you having a baby with Downs.

What sort of test did you have?

And would you terminate a pregnancy if you found out the fetus had Downs? If not, I'm not sure there's much point to testing, iyswim.

Thanks ShowOfHands/Overrun. I think we need to still do a bit of research so appreciate web address etc. x

Hi NCC - that's just it. I know that chances of miscarrying a perfectly healthy baby is more of a risk. We're just so confused and sorry to admit that we think it would make a difference if we knew our baby had DS.

with our first, 5 years ago, i tested 1:136 for downs and did have an amnio. the results were ok and she's now sat at the dining table drawing, but the amnio itself was horrible. i had always felt that if there was something wrong, i'd like to know and would also consider terminating if i had to, but before they do it, they do quite a lengthy scan. i lay watching her moving about on the screen and just knew as soon as the needle went in, i'd made a huge mistake and really wished i hadn't had it done. if anything had gone wrong and i'd m/c as a result, i'd never have forgiven myself.

after having dd, i then had 2 m/c's when we started ttc again for baby no.2. by the time i fell pg with ds, i'd already decided i didn't even want the blood tests doing. i just didn't care and had come to the conclusion that, regardless of anything that may be wrong with him, he was obviously the one we were meant to have.

you have to make your own decision on this, but i'm a great believer in gut instincts, go with what your heart is telling you. if you do decide to have the amnio, its usually a 2-3 weeks wait for the results which is as hard to get through as the test procedure.

hope that helps, not sure if it will.....but hope so. i think my feelings are clouded by what has happened to ggg, all babies, in whatever shape or form are precious and a gift.

Oh, Vander, I didn't mean that it was bad to want to terminate for an abnormality - we would do the same. I just meant, it's best to be honest with yourselves, and think about what you would do. I'm pretty sure that if you get a DS diagnosis, the doctors will pressure you to terminate, so it's best to know, ahead of time, what you would do.

We had a lot of our scans at the Fetal Medicine Centre in London, and saw a lot of couples there, on their "emergency" day, who had had NHS scans, and wanted clearer results. So you can pay for a better quality scan, rather than have an amnio.

Also, amnio problem rates vary widely. Again, you can pay to have one privately, if that's an option for you.

SIL had this. 70:1 or something. What test are these the results from? How did they calculate the number? And what is the rate of "hig risk" results at the hospital? Because SIL was told that at her hospital, they have a lot (compared with national average) of "high-risk" results for Downs. Because they're not very good at doing the initial test. But they're really good at doing the amnio without causing a miscarriage, because they get so much extra practice! Fantastic.

One of things that can skew the results is if you have high HCG levels. If you are pg with a baby that has Downs, you would have high HCG levels. But loads of women have high levels because they just do. And then their results come out as higher risk.

At 1:130, the risk of miscarriage after amnio is greater than the risk of your baby having Downs.

SIL had a scan at a private clinic - they look at the baby's nose I think, on better equipment than the NHS. And they spend more time on it etc. They told her they were pretty much certain the baby didn't have downs.

Its tricky isn't it. Gets you used to worrying about the baby now, good practice for the next 20 years I think!

What would you do if you did know for certain that the baby had Downs?

I didn't mean you to answer that last question on here, just that the answer makes a difference to what you choose to do!

I had a high risk with DS3 (NOT Downs) and had to amke these choices, I don't envy you. I did go to the Amnio (more as a result of MW bullying) but Dh and I did a flit- we didn't want to risk a procedure that was higher risk than the chances of the baby having DS. However, as we already ahd a disabled child, the DS risk wouldn't mean we terminated anyway, as we are already existing in the SN world (and indeed DS3 does seem to have SN now, though not related to his tests).

Questions you need to ask.... what would you do with a positve DS result? remeberingt hat DS is but one SN, and that the vast majority cannot be tested for and there is no guarantee of your child not having anything else?

if you would terminate (and the right decision is different for differing poelpe) then progressing to amnio should be considered- although after a scan is wise, imo.

If you would not erminate- what's the point of the risk? (and that's a question you need to consider, not a statement)

If you had a scan that was high risk, then the amnio took a while to come back 9we were told up to 6 weeks as the first cultures can be unreliable) how would you feel about the extra delay, if a termination is right for your family?

I don't envy you one bit, but look at the website recommended, its very reputable. have a flick through the various downs sites too, if you have no experience of Downs

It is a very emotional situation to be in, but if it helps I can tell you about a somewhat positive experience, if you can call it that. A friend of mine had the amnio done just before xmas. Her triple test result was higher than yours, 1:100 - same as the amnio m/c stats. They had a very thorough consultation with their local NHS hospital and found out all the essentials, e.g. the hospital's amnio stats (it turned out to be one of the best in the country), the consultant who was going to perform it was very experienced and even provided his own stats. If you do decide to have the amnio done, don't be afraid to request that they send you to one of the most experienced consultants - it can make all the difference.
Anyway, my friend said she thought that the actual procedure was going to be much worse. She admits they grew a lot of grey hair since it all kicked off, but now that the result is back and they know that the baby is healthy, they feel absolutely elated and can finally look forward to the rest of the pregnancy.

I had an amnio in October - my risk was 1:530 and although I was a little scared at the time, especially as the risk of miscarriage was supposedly a lot higher than the chromosomal abnormality risk, the results were good and I'm pleased I went through with it.

I have a daughter with down syndrome and with my second and third pregnancies had a higher chance than those of my peers including with dd2 - a further increased chance caused by something they found at 20 weeks. I have written lots of posts on similar threads - will try and find links for you.

my comments on here share our story as well as link to UK down syndrome association

here

here

here

hre

sorry for so many links but figure you can check them at your leisure.

Is your risk calculated from a triple test?? It can be very unreliable as a test. One of the links gives information about that.

Hope that is a help.

Hi Vander I also am in a simelar position. I had a simelar risk and also decided against amnio for risk of miscarriage and also consequent decision making. I have already had a late TOP for a rare genetic disorder that would have meant the baby could not survive. No way could I go through that unless the baby would be very severe or fatally handicapped.

We went for a private 'genetic scan' at leeds. They measured a nuchal fold and we got a lower risk (1 in 600) of course some babies with T21 don't show on the scan but still the risk was at least halved. To me, going through late loss/labour and injection to the baby is worse than a baby with Downs. It isn't the end of the situation but a long road of guilt and pain, and that was for a baby that wouldn't live. However, I don't condemn anyone that terminates for abnormality.

With screen positive results, about 1 in 50 amnio's will show Downs or sometimes Turners. So most people with high risk don't have problems, I was low risk with the baby we lost. I also read girl babies can cause hgher hcg levels.

I had an amnio with the previous pregnancy as there were in utero treatment options if the bay had a normal karyotype, sadly she didn't so they wouldn't do anything as prognosis was dire. I never thought i would TOP and wasn't sure right up till doing it. You feel like you are on a conveyor belt and very scared of the unknown. The amnio didn't cause a m/c in that case but I had a little spotting.

I was very stressed the first couple of weeks after knowing the result but feel a little better now after the scan. I couldn't cope with m/c through amnio even though the risks are small.

Anyway hope all is Ok, good luck whatever you decide re tests.

Vander,

My test came back with a slightly lower risk at 1:145, like you I received a phonecall informing me of this, which I decided not to get alarmed about. Did a bit of research and also phoned my GP, and had a chat with her,regarding anmio m/c risks, which helped a lot. We attended hospital couple of days later, for chats and even though the consultant inferred that the results were nothing to be alarmed about, opted for the amnio. That's just me though,I believe that knowledge is power. The procedure itself is not sore, they had babboo on screen during the "extraction", which was reassuring. The doctor that carried it out was also very competent. This was on the wednesday and was told the results would be back by 3pm Friday. I took it easy for a few days after and put it to back of my mind, easier said than done though. Come friday 2.50 I was most anxious I'd ever been in my life! The lab didn't send them till Monday though so it was not a good weekend Anyhoo, long story short, we were negative for Down's, and the other results would be through in couple of weeks. They turned out to be clear too, and as a treat to myself I requested baby's gender, another girl, WOOHOO!! It will come down to your gut instinct at the end of the day, it's a tough call but that's what being a parent is all about. I am so glad that I don't have that uncertainty hanging over me now and my dd3 will, (hopefully, lol) be here in 4-5wks time. I'd say if you are a worrier and a positive results for ds would have a massive impact on how you view the pregnancy, go for it. I hope this helped.

TLB.X

Hi Vander, I was given a risk of 1 in 40. I didn't want an amnio but was offered a marker scan which took about 45 minutes and gave me a lot of reassurance. I wish you luck with the rest of your pregnancy.

Morning all and thank you so very much for your kind words, experiences and knowledged. This morning I awoke feeling guilty and I'd not even done anything about the high risk outcome yet. Kind of throws up new arguments in my head. Have decided to speak to my MW again today and chat further ... maybe she can offer some different advice? Thank you.

Vander, I received a high risk result for Downs too, with my fourth baby. I decided not to have amniocentesis because only a few weeks earlier I had had a miscarriage scare (when I had actually lost an undeveloped twin I had no idea I was carrying) and I felt my baby was already at high enough risk of being miscarried without adding to it.

My husband (a great one for figures and statistics) also worked out that we had more chance of losing the baby follow amnio than we had of giving birth to a baby with Downs - I think the same could be said about you.

Finally, I decided that, much as I didn't want a baby with Downs (sorry to all parents of Downs children, but I am being honest here) I could not bring myself to do anything to harm a child of mine. Therefore, I knew I would never be able to opt for a termination, so it seemed fairly pointless putting the baby at risk to see if it had Downs.

BTW, he was fine, but I can well remember the agony you are going through right now. It spoilt my entire pregnancy - I kept it secret from everyone I could because until he was born there was always a risk that he had Downs and I couldnd't face people's reactions to that.

Similar position - my risk came back around 1:30 and I couldn't believe what was being said to me. No one can advise you what to do and a lot depends on what you think you would do if the test came back positive for downs.

I opted for an amnio and it came back negative - for me this was a positive thing as it enabled me to enjoy the rest of my pregnancy without worrying about what might happen.

Good luck with whatever you decide to do and as others have said, don't feel pressured into anything, you have to live with the results.

Hi NotQuiteCockney ... I didn't take offence but just wanted you to know that I was grateful for your response. Thanks x

Vander, sorry you are having a worrying time.
We were told at our 20 week scan that our baby had two 'soft markers' for DS and for other more severe trisomies, and I did opt for amnio.

I think that the miscarriage rate for amnio has dropped since the introduction of better scanning equipment, as they can see better where the needle is going - but this is something to ask about.

Where are you? If you are close to s London you could ask to be referred to the Harris Birthright Trust Centre of Foetal medecine in King's, and I think there are other specialist NHS units around the country, with very experienced scanners and state of the art equipment.

They can indeed see more aspects that may act as 'soft markers' at the 20 week scan, but then soft markers are basically unproven slight tendencies in co-incidence that may or may not indicate a particular condition! The only diagnostic test is amnio.

Perhaps you could do some research into DS and children who have it, which may make clearer for you what you would do if you did know that your baby has DS. If you would not end your pregnancy anyway, you may not wish to have amnio, but having had a child with some leg abnormalities, I was very pleased that I knew in advance and had facts and support at the ready, rather than finding out when he was born.

I wish you good luck - I know full well that statistics mean very little once there is any chance at all that all may not be well with your baby. a millionth of a percent of a chance will fill the horizon with worry until you know what is happening.

Hi Vander - I know the feeling - we actually had the midwife come round to our house with the "high risk" news (1 in 180, which I actually don't consider a high risk) and it was bloody terrifying - we thought that to actually turn up in person the news must be really bad, eg that the pregnancy wasn't viable. When she finally spat it out - after lots of gloomy faces and saying "it's so hard to deliver bad news" - I could have slapped her for giving me such a fright unnecessarily! As you say your risk is not all that high. I found the best response for us was to find out as much as possible about Downs and prepare ourselves. I did not want an amnio because I couldn't bear the thought of possibly causing a miscarriage, and I would not have terminated, so there was no need. Despite this I was strongly pressurized and told to have one by several midwives and doctors, which I thought was terrible. I had to literally argue my way out of it and cry before they accepted my decision. What if I was a bit less ballsy than I am, didn't speak English as a first language? I could easily have ended up having an amnio I didn't want. Of course it is right for some people and I'm not saying all amnios are wrong, but think carefully and make sure the decision is yours and not influenced by medical staff -0 who often seem to think testing is the best thing ever whatever the risks, and that Downs is the worst thing imaginable, when it's not.

Good luck and wishing you a great pregnancy and birth. By the way DS does not have Downs - though I was quite ready for him to when he was born.

Were your results from a blood test? If so, they can be inaccurate. It has a 66% detection rate and 4.3% false positve rate.
I am 43 and 21 weeks pregnant. My age risk was stated as 1:40. I opted to have a private nuchal scan and combined blood test at 13 weeks (the cut-off time for this test is 13 weeks 6 days, so it will be too late for you). The result came back as 1:2700. I will not be having an amnio.
Down's Syndrome markers can be detected during the anomoly scan at 20 weeks.
Why don't you wait until after this and decide then?

With my first PG my risk was 1:120, by a nuchal scan at 11 weeks. As this was still less than the risk of a miscarriage if I had an amnio, I opted not to have any further testing.

I understand how you feel - it is an awful time and a difficult thing to decide. One thing about the amnio is that you would know for certain if the baby had a problem (not just downs). Do you think that you would want to know for certain that the baby had a problem before it was born?

Hi Vander - I am in a situation where I have been told from the triple test that my chances of having a baby with Downs is 1 in 280 the cut off point for the amnio being 1 in 250. Though they have told me I am low risk, this is almost double the risk it should be for my age group. However, I have heard lots since getting this result that the triple test is inaccurate and is also based on your local demographic so can change wherever in the country your blood was tested.

We have decided that we are going to try to get a more indepth 20 week scan and if there are no problems found there just stop worrying.

Thinking logically too, for you out of 1000 children, statistically 7/8 will have Downs, 992 will not! Thinking like this I have found alot less worrying.

All the best