Results 1:19 Downs

[DahliaRose3]

Hi,

Received results following scan & blood tests.

1:19 Downs
1:250 Pataus
HCG 1.04
PAPP-A 0.86
Nuchal fold: 2.9mm

I’m 40, first pregnancy and we had trouble conceiving. We are both really upset, and I know for my age it’s 1:80 chance anyway. I’ve read such mixed things about results, and babies being okay vs not that it seems less like statistics and more like fluke.

I don’t know much about the CVS test but it seems most people on threads have the Amneocetis (sp?). I’ve read there are issues around the harmony and NIPT test accuracy.

It is quite overwhelming, and there is so much to consider. Not sure I could have a termination…

Any insight re my results or people that have had a similar experience? Meeting with the midwife to discuss today.

I am sorry you are going through this.

The Harmony test/NIPT in general is 99 percent accurate for Downs and a bit less (I think 92-99 percent) for Patau’s. It is much more accurate for both than the scan and blood test you’ve had so far are, and I think if it were me I would definitely have it as there is no risk to you or baby and the results should come back fairly quickly.

The more invasive tests will give you a definitive result in 98 to 99 out of 100 cases (they can’t cover every condition, but can cover the ones you have mentioned).
Amniocentesis (where a sample of the amniotic fluid is taken) carries a one percent risk of miscarriage. It is usually offered to you from fifteen weeks.

Earlier than that, the test commonly used is chorionic villous sampling (cvs) where they take a sample of cells from your placenta. It has a similar miscarriage rate. The reason people don’t have it as often is because it’s not often offered beyond 13 weeks and 6 days, though it can be offered a bit beyond this sometimes (up to 14 weeks and 6 days).

Would it help you to consider what you would do with the results of invasive tests, if you had them? If families are sure they would keep the baby anyway, some choose to not have the invasive tests but could still monitor the baby’s progress through scans in order to help plan delivery and to consider any in-utero treatments.

Other families prefer to know, whether or not they are opting for termination or for continuation, and are happy with the 1 percent risk. For them, the certainty is worth the risk.

If you go for NIPT, you can go for amniocentesis too based on the NIPT result and how you feel about it.

There is no wrong answer here and the important thing for you is that you have a chance to talk through these results with a professional and make a plan that feels right for you.

Great reply from @SpringtimeDandelions

just wanted to send you love.

Hello, I just came here to post a similar thread, I had the call this morning that my baby is 1/40 for Downs. I can’t help much but here to say I know how you’re feeling 💐

I spoke to the loveliest midwife who was amazing at explaining everything. They obviously can’t tell you any answers but she took so much time explaining everything I wanted to know. I had the quad test, my markers are just a bit out but nothing dramatic. She said my age (39 when baby is due) together with that will have tipped the risk, but the highest chance is still that baby doesn’t have Downs.

I can’t really comment on your numbers - the NT measurement range gets bigger the further along you are so how many weeks you were when it was taken is important, but I don’t think it sounds very high.

it’s so overwhelming, I think I’m going to opt for NIPT first because I don’t think I could terminate, and I couldn’t forgive myself if I had an amnio and was in that small percentage that miscarried when I’d have continued the pregnancy regardless. I was told if the NIPT comes back high then I can still have an amnio to confirm. If it comes back low then it’s less than 1/1000 chance of Downs (which is lower than my first baby’s risk came back as from the quad test, so I’d happily take that).

I think that CVS vs amnio depends on how far along you are. Amnio is slightly lower risk but can only be done from 15/16 weeks.

Sorry I can’t be much help, but here as a handhold and someone who knows how it feels to hear that news. I hope you have a midwife as lovely as the one I spoke to x

@SpringtimeDandelions thanks for your detailed response, and support.

We had planned on having the NIPT, however
we spoke with the midwife and we were told the NIPT result is not a number, just a high or low risk result and still a screen, which might mean more tests again. What does low even mean? Given the results we have had we have opted for Amnio which is diagnostic, as we don’t feel the NIPT would give us the info we would like or allay our worries. Both the midwife and ARC were really lovely and helpful, and it wasn’t an easy decision to make.

Which in-utero treatments exist?

Thanks @TheGlitterati I really appreciate it.

@Emmzo Sorry to hear you’re having a hard time too. Thinking of you.

Mostly I’m just feeling sad, and it seems really unfair - this was the week I wanted to share my pregnancy news with friends, but instead I am worried about my baby.

I am feeling better that there is a plan in place though. All we can do is take it a day at a time…Thanks for listening.

Would you consider trying to come to terms with the idea your baby might be born with DS? For many many people having a child with DS ends up not being the end of the world.

If you are sure you would terminate if the baby has DS then this might not be for you but if you are interested in how other parents of children with DS get on, there is a ton of information out there.

It's not what you pictured for your baby, but then how many people's children do/are all the things their parents imagined when they were pregnant.

We had NIPT at 10 weeks and no NHS screening. Our result was expressed as 1:10000 and the bonus of finding out the sex.
But in your position now I’d go straight to amnio, as it’s the only way to be sure.

I'm sorry to hear you are worrying OP, but all natural and understandable.

I was consultant led, due to a genetic condition I have, but it is a balanced chromosomal translocation. But everyone kept throwing "down syndrome" round as a "risk" when that gene isn't even involved in my translocation. There were no other concerns for any other genetic issues.

At 13 weeks I had an appointment with a lovely South African consultant.

I said "everyone wants me to have amneo to test for downs, and I'm not sure I want one"

He said "if the results came back that baby had downs syndrome would you terminate?"

I said "no"

He shrugged and said, "then don't do it, we can monitor baby with 2 weekly scans for growth and health, if you are happy with what will be will be, then let it be"

I declined further genetic testing, baby was scanned two weekly, he grew perfect, and was delivered perfectly healthy. We still don't know to this day if he carries my balanced chromosomal translocation, but I can talk to him when he's more mature about that, and he can request a blood test himself when older.

My risk was 1:36
Iopted for the harmony test. I'd never have aborted so simply wanted to know to ve prepared and informed about what to advocate.
I had the test privately via the foetal medical centre in Hartley Street and highly recommend, the ultrasound alone was so in depth.

Hi @DahliaRose3, I am glad to hear that the midwife and ARC were helpful and that you feel a little better now that there is a plan in place.

I so hope the amniocentesis results bring you the news you want to hear.

For info, the NIPT I have come across do give a result of risk in numerical terms – the lowest being less than 1 in 10,000 (0.01%), and the highest being greater than 99 in 100 (99%). If you search online for “harmony test sample result” you can get an idea of the information provided. But of course your choice to go for the amniocentesis straight away is absolutely valid and sound anyway.

With regard to in-utero treatment, I do not know a great deal about this at all, but for instance if a baby has fluid buildup around the lungs there is sometimes something that can be done to drain this. But I had really only brought that up to stress that frequent monitoring and, if necessary, interventions, are options regardless of whether or not one has the more invasive tests.

Wishing you all the very best.

(I have a family member and acquaintances who have Down’s Syndrome. If in the future you were to want to talk more about it, you would be welcome to write to me.)

Thanks for the messages and info. We were told that the NIPT results aren’t expressed numerically neither privately nor on the NHS.
But we will look into this further privately, thank you.

With respect to a baby with Down’s we wouldn’t rule it out, but it’s not just about that. I already have health issues (includes fatigue), and my partner is the one they picks up the slack when I can’t manage, and he has a demanding job.

We have no idea how severe the Down’s would be if baby does have it - that’s a very real concern for us, and it has nothing to do with a lack of love for our baby. I was a carer for a sick parent for a year, and that was extremely difficult. Mentally would we both manage with a child that has severe issues - I am not so sure.

I have no family in this country, my partner’s family live 3+ hours out, and I have one or two (not close) friends nearby. In addition to this, the plan was to move further out from everyone for affordability’s sake, meaning we are even more isolated for a year or two. My mum is also very ill at the moment, which doesn’t help with stress and support - my sibling is having to deal with this, in addition to looking after her 5 small kids.

I have a family member with Down’s, and growing up we had a family friend whose son had it (severely) too… I am familiar with what in involves - both the positives and negatives.

It’s really not a black and white situation…

@DahliaRose3
The situation isn't black and white, no.
As I said, the Harmony is noninvasive, so no risk of miscarriage as a result. And gives a numerical risk.
You can then go onto amniocentesis if wish after as well.
I'm an older mum. Had fertility issues. And have seen firsthand the heartbreak of losses etc. The question I'd ask is, could you afford fertility treatment if this pregnancy does not lead to a live birth as you're at the limits for assistance in many areas. Also, would you rather live without any child than a child with a potential condition? As that's also a risk.
Please also bear in mind, that having a negative or low risk result, doesn't rule out other conditions. My own child has many others. As do siblings and I even know of some health issues when some couples had genetic testing of embryos before implanted in ivf. There is no guarantees.
Likewise, having a baby and then child is exhausting. If part of your decision is based on your fatigue, and lack of local support, any baby is going to challenge this and with the exception of conditions requiring medical intervention, this is the same for all until 18 months ish. If that's now seeming like a huge undertaking, then maybe you need to take time to review this and maybe look at what you can put in place to mitigate this. It's not, imo, sustainable from birth to be expecting oh to work ft and pick up more of the household slack and baby's needs. Nor fair to the child.

If it were to come to it, you as a couple should make the decision that is the least bad option for you. I hope you would not feel a need to justify it to anyone, and would just know you were entirely justified in making it, knowing the situation is never black and white but trusting you made the right one for you and that of course it had no bearing on how much you love the child.

I have only ever seen harmony test results contextualised numerically (I.e. less than a 1 in 10,000 risk, or greater than 99 in 100) but perhaps it has changed or depends on the trust.

I am sorry you are going through so much; sending you and your family all the best and so hoping you get the best outcome.

Hi,
Really sorry this sounds like a very stressful situation. I've not been through it before but thought I'd chip in as I've just had results of my harmony test back. The midwife I had was excellent and she explained it all really clearly ahead of my test.

I will try and upload a picture of the letter but it lists each chromosome test and then gives a low or high probability and then the numerical result. In my case the results were low and each had a probability of 1/10,000.

The small print explains the threshold of how they determine high/low. High risk = probability of more than 1%, low risk = less than 1%.

Perhaps you could speak to your midwife again about how it works. I would probably opt to have the harmony test as it's quick, very accurate and no risk to baby (my results came through in about 3 days). Then if you still have high risk resukt you can go on to think about more invasive testing.

All the best xxx

@ChoiceMummy thanks for taking the time to share your story.

My partner and I have plans in place to raise a baby/child, and this wasn’t an afterthought by any means. I work long full time hours too, and contribute around the house. Yes, sometimes he does a bit more around the house when I can’t - I would say most women usually do - but our relationship still works. I’ve offered to get a cleaner to help, but he won’t have it. If I worked slightly less hours things would be better for me health-wise, but atm that’s not an option.

He wouldn’t be shouldering the majority of the work and child rearing, or we wouldn’t be having a baby. As a side note, plenty of women do the lion share of housework and child rearing, whilst working alongside their partners. There isn’t a perfect formula for raising a child…and families do what they can given the circumstances.

Of course a child can have a number of issues. A child with severe disabilities (and potentially other issues on top of that) is an entirely different story - that is what I’m getting at. And no, neither of us wants that, not for us, but most importantly and our top consideration is definitely not for our child. I know some people may disagree, but I believe quality of life matters. Being an adult with lots of issues to contend with is quite different to being a child whose parents look after them. It’s real and can be scary and isolating.

In both circumstances you would
need more support, as you would have additional challenges and needs as a family.

Yes, we have options for some fertility treatments; but it’s not to say that they would even work, or would decide to try again if for whatever reason things don’t work out.

@SpringtimeDandelions Thanks for your support.

@Geranium1984 We spoke extensively with the midwife/screening person, and she told us other patients had also expressed dissatisfaction with how NIPT results were presented on the NHS.

After consideration, having another potentially high result via NIPT and awaiting screening results (which can be inaccurate) and then having to do further testing anyway if it is high again, would just cause more undue stress. The amneo is the most reliable diagnostic test, and seems like the best course of action for us atm. We are hoping to get another scan in beforehand to see if anything has improved for baby - fingers crossed.

@DahliaRose3 I got a high risk for DS at my 12 (actually 13) week scan and opted for a CVS over the NIPT. We were told the same as you re the results and we wanted a definite yes or no.

We went for the CVS as we were able to have it that same week, rather than have the NIPT, get a high or inconclusive result and then have to wait for an amnio which would add another couple of weeks stress onto the situation.

The test itself was fine, my H was allowed to be there with me. They scan the baby the whole time and if they're not in a good position they can't do it - as it's going into the placenta. Luckily ours was in a good position so it was able to go ahead. Obviously the amnio tests the amniotic fluid but they will still scan the baby throughout the procedure.

The recovery time afterwards was longer than I expected - the NHS website is rather breezy about it, but I was in a fair amount of pain for 3/4 days, although that could have just been me. I had no bleeding and just some mild cramping, it was the needle wound site that hurt the most, it was hard to sit/be comfortable as I was so sore.

We had the test on the Wednesday and the results were back by the Friday and luckily all was fine. I'm 32 weeks now and baby has been healthy throughout.

We were also told that the miscarriage % for amnio and CVS are actually a lot lower now than officially recorded and I really can't fault the service we received when we had ours.

Obviously you will make the right choice for yourselves, but we had decided that if any extra screening was needed we would take the most definite option offered at the time so we could have the clearest picture possible, which is what we went with.

@Wolowl Thanks for sharing your story, that is really helpful. The NHS consultant said I should be okay after 1 days rest according to the receptionist, although I was told otherwise beforehand. Thanks for the heads up, I will have a chat with my manager at work in case I need more time.

I am very pleased that it you had the results you wanted and that your pregnancy is on drink.

Rightly or wrongly, we are staying positive and hoping for the best.

Hi OP,

I just wanted to come and offer you a hand hold for the very difficult circumstances you find yourself in.

My history isn’t similar to yours, but when I was having just the routine screening at 12 weeks pregnant me and DH had the conversation surrounding what would we do if any screening was to result in us being told that the baby had Down’s Syndrome or any other generic condition that is tested for. It was obviously all hypothetical but we both agreed that we would likely terminate.

Sadly with DS it can be a lottery as to how mildly or severely a baby/child/adult is affected and it wasn’t something that we felt we could handle should our child be severely affected. As you said, being a baby, child, teenager etc with profound difficulties is fine when you have parents to look after you, but what about when that individual becomes an adult? Who cares for them when their parents are no longer around? Thinking about the child’s potential quality of life if they were to be severely affected was also something that me and DH held of great importance and it wouldn’t have been a gamble we wouldn’t have felt comfortable taking.

That is of course no judgement to anyone else and the decisions they make, I truly believe everyone makes the best decisions for themselves, but like you said it’s not a black and white picture and there is no easy answer.

Good luck going forwards OP, I really hope it turns out that your baby is healthy and you can put this upset and trauma behind you. If the results are not what you want however, don’t be swayed by anyone else’s thoughts or experiences, TFMR is only yours and your DH’s decision to make.

The best of luck x

For perspective, my numbers were very similar to yours OP, slightly higher PAPP-A and HCG, same nuchal, only I was 37 at the time and my result was 1 in 212 for Downs, and the minimum for Edwards and Pataus. Chromosomally normal daughter is 1 now- age really skews the result into something scary. Just three short years being the difference between 1 in 19 and 1 in 212.

Fingers crossed for you, pregnancy is a scary time isn't it 💐

I wanted to provide an update re my situation. Had my amneo, and we had decided to go ahead with the pregnancy irrespective of results. The procedure was delayed by a few weeks.

Happy to say, baby came back with the all clear.

Thanks for the support and for listening.

Sorry to hear you are going through this. We had a 1/13 chance of DS very recently and opted for the amniocentesis. Had the procedure on the Thursday and was phoned on the Monday to be told the baby did not have DS, Edwards or Patau syndrome. They can be 100% certain only with this option as they look directly at the genes which are affected by these syndromes. The wait from the Thurs to Mon was horrendous. I wish you all the best whichever option you choose.

Missed your last post saying you got the all clear. Fantastic news, enjoy the rest of your pregnancy.

Great news, congratulations! Thanks for updating