'High risk' (1:85) chance of downs - hand hold please

[gimmeadoughnut123]

Hi

I had a call from our hospital last night to say I am considered high risk for downs. I am 25 so age isn't a factor. They said 1 in 85 which means 1.1% of downs and basically 99% of a healthy little bubba.

There's no way we will go for any of the testing that carries miscarriage risks with it, but I am torn as to if we should have the harmony test. It's £250 at the hospital or £400 private. We would probably wait 2 weeks for results because of Christmas.

We have both said even if the baby had downs we would not terminate.

They didn't give me my measurements so not 100% on my markers but she did say my PAPP A in my blood was low so I would get extra scans anyway. I've googled and apparently if your measurements are ok often there's nothing wrong with baby just from bloods. But I don't know them. They did say during my 12w scan that everything looked ok.

Can I have a hand hold and some positive stories? What would you do? Harmony test or accept what will be will be?
I wish I had my measurements - now need to wait until Monday!!

I have had the harmony test in both my pregnancies and declined the NHS screening because the NHS screening is fairly inaccurate (and I didn't feel I would be confident in the result either way) whereas the Harmony is almost diagnostic in accuracy.

Unless paying for the test would cause you significant financial hardship I really can't see the argument against having it to be honest. Whatever the result it is surely better for both you and the baby to be prepared? Given that there is no risk to the baby from the test it seem like a very easy way to either avoid six months of anxiety or put the best possible care plan in place for the baby both at birth and subsequently. What's the downside?

Best of luck with everything OP.

Only you can make that decision. In reality a 1.1 chance of ds is a very low chance. Most likely your baby will be okay. DS in itself does not mean that much in the early days. It is the comorbid conditions, especially the potential heart issue that are the big problem. You will find out more about that at your 20 week scan.
My last baby had DS. In my case age related. I had an feeling but did not go for tests. He did not make it - the majority of babies with DS do not. No test in the world can give you meaningful answers at an early stage.

@randomsabreuse because he doesn't think baby will have DS. I was up all night googling and very few people that said they were high risk due to PAPP A had anything wrong with baby when further testing was done. So the cost has put him off.

@Madwomanuptheroad I'm so sorry to hear about your baby and everything you have bad to go through, however I disagree that DS means that babies will not make it. If it was Edwards of Pataus I would be in a very different place to the one that I am, but DS is a very understood disability these days. Babies do often go on to have a good quality of life.

You claerly did not fully read my post. I basically said the same as you. DS is not neccessarily the biggest issue, some (not all) baby's affected have very significant additional problems. No early test will pick up on that and at a likelyhodd of 99% the risk while sounding high is actually very low.
A test at this point may give a sense of reassurance but not really tell her anything.

Hi gimmee

I was in your position last year, same age and 1/99 chance of DS, I declined any tests but was offered a scan at great ormond street to check babies heart around 18 weeks? Thankfully that went well and I gave birth to a healthy baby.

I will say I managed to put it to the back of my mind until the last two weeks when I had a wobble of "what ifs". So looking back I should of probably had the harmony test, so I think you're doing the right thing.

Hope everything works out for you such a worrying time

Sorry if that came about as harsh. You and your baby will be fine. Pregnancy is always a bit worrying - I would go for the test and a sense of peace of mind is money was not a problem. Otherwise I would wait for the detailed scan and ask lots of questions. All the ealry test will tell you if there are a couple of extra chromosomes. That says very little about how the baby may or may not be affected.

I guess cost/ benefit is debatable. It's a lowish risk but my first pregnancy was 1/10 000... so much. The question is how much is peace of mind worth. Is the £250 a month's food budget, all that's left in the emergency fund or the budget for a night out? Will removing the stress at the cost of £250 just add more stress by worrying about budget?

OP, I was given odds of 1 in 49 for Downs. Age 30, second child. NT measurement was 4mm. Also had low-PAPP A (0.88). Had the Harmony test the same afternoon at my hospital (thankfully it's free in my NHS trust) and I received the all clear 5 days later. I went on to have growth scans due to the low-PAPP A but baby was growing perfectly at each scan and I now have a completely healthy 3 month old DD. If I have any more children I would choose to pay privately for the Harmony test instead of having the combined screening through the NHS. It can be very inaccurate and those days of waiting for the Harmony results after those odds were so stressful.

Good luck OP. The odds are in your favour. I would absolutely go for the Harmony test in your position.

Thanks all. Chatted to DH again and we are calling the hospital to request Harmony on Monday. Made the mistake of reading up about low PAPP-A but there seem to be more good stories than horror stories so at least we will be kept an eye on.

@Driggle thanks for sharing, that's really reassuring.

DS is a very understood disability these days. Babies do often go on to have a good quality of life.

Absolutely but around 30% of Down Syndrome babies (excluding those where abortions are carried out, so the number would be higher because many TFMR are as a result of knowing the baby’s DS and conditions with it are incompatible with life) are miscarried or stillborn. DS babies who survive in the first place are those who are not so badly affected but sadly many of them are not even well enough to be born alive or last the neonatal period.

I had 1 in 60, which is the same risk as a 37 yr old i was 34 at the time. I had amniocentesis . She is 21 now and no problems

OP I'd go for the Harmony test in your shoes. I've a much higher risk (1 in 3 in scan alone) but have gone for Harmony first due to the risks of CVs and amino.

You may be classified high risk, but 1/100 is pretty good odds, good luck.

@le42 thanks for your post. My NT is 4.8, your story is giving me some comfort as I wait for my Harmony results (one week in!),

Thought I'd just give a little update. Off to the hospital for my harmony test in 1 your and they said I'll have it back for the 24th, possibly 23rd. It goes to the FMC in London.

My full results of the screening were

Age - 25
NT - 2.9mm
HCG - 0.98
PAPP A - 0.29

So it is literally just the PAPP A that has given me the risk factor, coupled with the fact my NT is on the high side of normal (but still in the normal range). Baby was almost 8cm CRL so personally the NT seems proportionate to me.
She also told me that people never have a perfect PAPP A and HCG, one is always out. She also noted that baby looked very healthy on the scan.

I will update as I have spent a lot of time on forums over the weekend searching for positive stories so know they mean a lot.

Meant to say going for my test at 11.30!

Good luck.

Just thought I'd post an update for anyone out there googling for positive stories whilst they wait for their results.
My harmony results came in today. Led than 1 in 10,000 risk of all 3, and we also found out we are having a baby girl.
Over the moon and so glad I had the test. Now I can finally enjoy pregnancy.

*less. Bloody phone!

Wow, that is incredibly quick to get your harmony test results back so soon. Glad it’s all good news.

Lovely news OP, put your feet up and relax now.

Please please please insist on further growth scans from the hospital. There is a lot of evidence to suggest that low papp-a levels carry a higher risk of complications in pregnancy, so please make sure you get a further growth scan at least at 32 weeks. Lots of hospitals already offer that to women with low papp-a but sadly some still don’t.

@onemoremummy they are already on it with 2 additional scans planned. I will chat to them more about it at 20 weeks when we see how bubba is doing.
For now I'm going to relax for the first time in a while!

Fantastic news