Low risk for Down syndrome but still worried

[thaigreencurry82]

I appreciate this is an emotive topic but I need some advice/insight from others who have been in this position.

My trisomy screening at 12 weeks with nuchal of 1.4mm came back as 1:50,000 for Edwards & Patau but a higher risk of 1:2,600 for Down Syndrome.

At the time I was happy with this risk and decided not to do the Harmony test as it works out as a 0.038 per cent chance. I was 34 at the time of testing.

The 20 week anomaly scan showed no problems.

However now I’m much further along (31 weeks) and for some reason I have been worried lately that my baby might be that 1 in 2600 that has Down syndrome. I think it’s because the Down syndrome risk i received is higher than the other trisomies and also a general feeling that you could always be that one in whatever chance.

I’ve stupidly been googling and have found examples of women who were also low risk but went on to receive a post natal diagnosis of DS, eg one who has posted on here with a 1:1,900 risk and then others on other forums with a 1:50,000 risk.

So in hindsight the NHS screening has not reassured me and I’m thinking about doing the Harmony which they combine with a scan at up to 32 weeks.

Am I worrying unnecessarily or should I do the Harmony?

If you can afford it maybe the Harmony would ease your mind? However at 31 weeks what would your options be if it came back positive for Down’s?

I'm sure if there were no markers when you had the anomaly scan then the risks of DS are very low. Can you talk to your midwife about your concerns? It's been a while since I had my babies but I had a high risk result for DS1 and didn't have further testing after the anomaly scan. With second pregnancy, our risk was very high and sadly our baby did have DS. I had a medical terniation at 19 weeks but we could have had that at any time, the 24 week cut off didn't apply. If the Harmony test would put your mind at rest then do it, but do think about what you would do if it was positive. Also contact ARC www.arc-uk.org they can help you talk through your concerns.

Your risk is low, but I do understand that that these feelings are not always rational. Yes, you could be that one person but it really is very unlikely.

Hi OP the Harmony might put your mind at rest.

However I had the Harmony and got a 'less than 1/10,000' result (NHS result was 1 in 7,200) so even with the Harmony there is still a risk that my baby could be that 1, if you see what I mean? I am a natural worrier but I am trying not to worry about this. It is hard though as there feels like so much to worry about in pregnancy

Before you do any test I would consider what your options would be and what decisions you would make if it came back as positive for Downs. If your answer is that you would keep your baby and you would raisd them regardless then there doesn't seem to be as much point in putting yourself through the test. I know you could be the 1, but there is so much more chance that you won't

Hi everyone,

thanks for your replies. I think I will have the Harmony test. Getting a less than 1:10,000 result would put my mind at ease and allow me to enjoy the rest of the pregnancy. I'm not going to say what I'd do if it came back positive as I don't feel Mumsnet is a safe space to speak one's mind re this kind of issue.

Even before adjusting for your blood results and nuchal scan measurement the risk for Downs will be higher than for the other trisomies because it is more common. There may be individual cases where someone is perceived as higher risk for the others, I don't know if perhaps having a previous child affected raises chances etc, but in general you would always expect risk for Downs to be higher I think.

I have had the harmony and the usual combined screening. My risk for Downs on the harmony was the 1 in 10,000,000 and the combined screening was one in 1352 at the private clinic that did the harmony and 1 in 1850 with the NHS. The private clinic started with 1 in 68 before adjusting for results of combined test, the NHS started at 1 in 92. I am 40 so that made my starting risk quite high.

There's a woman in my circle who had a risk of 1 in 12,000 for Downs and her baby still has it. Doesn't matter how low the odds were if you are that one. By all means go for the harmony though, if you think it'll ease your mind.

OP, i don’t mean to sound harsh but this is just the beginning of a life time of worry that you inherit when you become a parent. Your baby is very very very low risk of DS, but there is a host of other things that could affect your child in it’s lifetime. I would focus instead on your anxiety and talk to your midwife about that, because the minute you discover your baby does not have DS, you will likely become fixated on something else. Good luck with the rest of your pregnancy.

If you have the test and it shows high risk, would you abort? You still would not be certain of downs and you are 31 ++weeks, which would be a really horrible thing to go through . Personally I would not.

OP, at 31 weeks if your baby has Downs it sounds like you would abort. Can I ask you what your plans are if there are complications with the birth and your child ends up with Cerebral Palsy? When we decide to become parents we decide to have a child, whatever that child's circumstances and regardless of how much screening you have, you can not ever be 100% sure that the baby will meet your expectation of "perfect".

I worry about these tests. I worry about the manufacture of a non-Downs world. I worry about those people who do have Downs and how they will be perceived in a world where it is acceptable, at 31 weeks pregnant, to abort babies for having the condition.

If you can afford it just get the harmony test. That I can find there has only been two false negatives ever worldwide from the test (one t21 and one t18). So the real false negative risk is way less than 1 in
10 000.

My brother has Down’s syndrome and he is the happiest boy I have ever met. He has no complications other than his speech but to us it’s minor. Having a child with Down syndrome is a blessing just as any child. My mum said all he did was sleep eat and poop for about 3 years, walking was abit delayed but this varies in different cases. He is now 19 years so active and loving! He is very excited to be an uncle for the first time. I will say the hardest thing is finding child care but other than that he’s amazing. Hope this helps and good luck!!

Have you got a date for your Harmony test OP? The results can take up to two weeks and presumably in the unlikely event that you were deemed high risk you would then get confirmation through invasive testing, assuming that is possible at this late stage. You could end up going into labour before you even get a result.

I have one question as to why it has took so long for you to decide to have further testing? At 31 weeks the baby is viable and has a very high rate of survival.

I found out at 12 weeks scan my baby is high risk for downs syndrome. I paid for the NIPT which came back and confirmed that the baby has downs syndrome. I am currently 33 weeks pregnant.

In order for me to be offered termination, i would have to have an amnio test. The test can be carried out between 30 and 36 weeks pregnant if not done earlier. But it has a higher chance of causing early labour. Before you get the accurate result, (takes about 3 days) you could already go into labour.

If you feel you aren't up to the challenge and privilege of raising this baby, you could always put them up for adoption. I just feel you have left it too late to start considering your options regarding termination.

I strongly believe that it is personal preference and you should have the option to terminate but i think you need to accept that regardless of the outcome there is a very high chance you will be having this baby.

I hope you get the result you want and are able to do what you feel is best. I wish you the best of luck with the rest of your pregnancy and your test.

I think everyone has to make their own decisions as to what is right for them. Just because someone has a happy, healthy child with Down Syndrome doesn't mean that someone elses baby won't have a severe learning disability with high needs.

Also, knowing in advance when you can make choices is different to having a baby who turns out to have a disability so it seems unfair to suggest that people who choose to have a termination are wrong.

Hello everyone

Thanks for all the replies they’ve been really helpful.

@itshappening thanks that helps explain why my T18 and T13 risks were so low but T21 not as low.

@zoetobemum I am only considering this now as I was initially reassured by the NHS screening. I am fixated on “what if I’m the one in x risk” and I don’t really know why. Part of me thinks it’s irrational but I can’t help thinking it anyway. I also agree I’ve left it too late to consider termination and don’t feel comfortable with this option. I can feel her moving as I’m typing this and I have already fallen in love with her.
If she did have Down syndrome I would not be able to look after her given my circumstances and I would give her up for adoption but I have no idea what that involves/whether that is even viable as an alternative to termination.

@starry thank you for your comment. That’s what I was alluding to when I said I feel that MN isn’t a safe space to discuss these issues, but I do feel that this thread has proved me wrong on this. I agree that just because one family has a mildly affected child and are happy with their decision not to terminate/give up for adoption, this doesn’t mean that every family will and should feel this way.

Hi OP
Have you tried:
www.arc-uk.org/
specialist support for prenatal testing
they have a helpline,0845 077 2290 or 0207 713 7486 via mobile
and I expect they get many calls from ladies in your position and can offer the safe space you need.
Good luck

So presumably if your child has a traumatic birth and is left with a disability you will also have the baby adopted?
I think that if your requirements for a baby are so specific you perhaps need to reflect on why you chose to have one at all. To give one up or get an abortion because it doesn't quite hit your ideal is really sad.

Dear OP. When i found out my baby has downs syndrome the hospital gave us 3 options. One of which is adoption they can support you through this process and explain the procedure. They would ensure that the baby will end up in a safe happy home.

I can't imagine how hard that decision must be but i am hopeful for you that the NHS combined is correct and the baby will be fine.

Good luck with finding your answer.

What a sad thread.

@dlnex thank you for that information, I will give them a ring.

dear @zoetobemum thank you for your kind post, I really appreciate it. All the best to you.

I had a low risk result but decided on amniocentesis anyway (harmony test wasn’t available then). I wanted to be 100% certain there wasn’t any chromosome abnormality. It was a relief to get the result I wanted. Go for the harmony OP if it will give you peace of mind.

You have to remember the overwhelming likelihood is that all will be fine. It is so easy to worry about being the one in whatever the number is though...someone has to be. But the odds are in your favour. If you want to get the Harmony just in terms of calming you down before the birth that seems fair enough.

Whowhatwhy remember you do not know the OP's actual circumstances. I am sure this is a not some unreasoned whim on her part or about a child meeting an ideal.