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Worried about high risk Downs

(22 Posts)
Mouse007 Wed 06-Jun-18 05:13:23

After a miscarriage and an ectopic, I am finally pregnant again. Our 12 week scan last week showed that I'm 13+1 (2 days ahead by my calculations). Baby had 3mm NT, and my bloods have come back at 3.78 MoM for free beta hcg, and 2.3 MoM Papp-a. Risk was calculated at 1:130 for Downs and I was offered the Harmony NIPT test, which I took yesterday. Now I have an agonising wait until next week Friday for the results.

I know none of you can tell me how things will work out. I don't have a question as such, I guess I just wanted somewhere to offload my worries. This is a much wanted baby and we thought we had finally made it, so to get this news is heart breaking. I keep telling myself that it's still less than a 1% chance but seeing the words "high risk" makes me wonder if I'm missing something. I have PCOS but no one seems to be able to tell me whether this can cause high hormone levels, rather than DS.

J4nice Wed 06-Jun-18 05:15:10

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

Grasslands Wed 06-Jun-18 05:23:06

I don’t see the odds of 1 in 130 as being high. Positive thoughts the harmony screen arrives quickly.

Cynara Wed 06-Jun-18 05:23:19

Sorry to see such an unhelpful reply from j4nice. I'm so sorry OP, what a stressful time for you. I know there's no point trying to reassure you over the numbers, but it is a long way from a positive confirmation still, so you have every reason to be optimistic. I hope the time until Friday passes quickly for you, take one day at a time and keep busy. I truly hope you have good news.

fivehundredguys Wed 06-Jun-18 06:22:45

Please ignore J4nice. It's a troll (created an odd Sanpro thread this morning)

DSis had a similar experience, similar numbers, DN was fine.
thanks sorry you are dealing with this added stress.

NightLion Wed 06-Jun-18 06:35:17


I understand your fear. My risk ratios were 1:36 for first pregnancy and 1:4 for second pregnancy.

I't's good that you are having the Harmony test next week. I had to wait for more invasive testing.

The longest 2 weeks of my life each time.

Try not to worry; it's only a risk ratio, not a diagnostic certainty.

Or try reading it this way: based on this number you are 129 times out of 130 not to have a baby with a chromosomal abnormality.

Hold on to that thought.

NightLion Wed 06-Jun-18 06:40:45

Oh, and ignore posters like J4nice. They always pop out of the woodwork on threads like these. Very unhelpful.

Good luck OP; chances are you will receive the all clear like me.

ER1212 Wed 06-Jun-18 07:30:58

Hi Mouse, I'm in the same boat unfortunately. Had the harmony test last Saturday and still waiting for results. Our nt measurement was only 1.8mm but the bloods caused odds of 1:144.
I had a miscarriage last year and tomorrow would be our due date so praying for some news today.

Gilbert82 Wed 06-Jun-18 08:09:05

Although the previous posters comment is unhelpful there is truth in it.
I had a postnatal diagnosis of T21 following the birth of my son last year, he is the best thing to have happened to me and my husband! I will admit it saddens me that people would be devastated/heartbroken to have a baby with Down syndrome, I couldn’t imagine a world with by son in it. I hope you get the test results you’re hoping for and that you have a healthy pregnancy and baby (my son is completely healthy with no medical conditions other than that one extra chromosome!). If you do have any questions please feel free to send me a message x

Mouse007 Wed 06-Jun-18 11:28:27

Thank you all for your messages. We will keep and love the baby no matter what. We want the best for our child, and I hope people would find it understandable that I think not having DS is better than having DS.

I do keep trying to hold on to the thought that there's a 129 in 130 chance that it won't have DS - that's 99.2%! But seeing "HIGH RISK" literally written in caps on my paperwork keeps throwing me off. Only 9 more sleeps to go and until then, I have to try not to Google too much for answers - easier said than done!

fivehundredguys and NightLion - it's great to hear that you / DSis got the all clear. If you don't mind me asking, do the children have other health problems? I'm worried that even if it's not DS, that the high hormone levels might indicate a problem or create some damage to my baby.

Gilbert82 - thank you for the offer! I think I need to get some time to get my thoughts together but I will remember your offer.

ER1212 - I'm sorry to hear about your position. I hope it works out well for you and I would be interested to know how you get on.

roseblossom75 Wed 06-Jun-18 11:40:40

While I agree (as a mother of an adorable seven year old with Down's) that it's not the worst thing that can happen, I totally understand your fears.
I didn't have any testing done during pregnancy as I knew I would love my baby no matter what and I didn't need the added stress of test results.
When my baby was born with DS it came as a huge shock and I wished I had prepared myself for it.
Please don't let anyone make you feel bad for being scared.
It's perfectly natural.
My child had a really tough start to life and spent most of his first two years in hospital.
Now he is a happy, healthy seven year old who brings me so much love and joy. He has a happy fulfilling life. His face can light up any room and he has an endless supply of cuddles.
Yes we have our struggles but we muddle through them together.
I think for me it is other peoples attitudes that are the biggest hurdle.
It has been a real eye opener for me.
I wish you all the best. x

NightLion Wed 06-Jun-18 12:17:01

For me, much of the fear stemmed from the uncertainty of not knowing either way and feeling powerless whilst waiting for the results.

Mouse: my children are healthy, happy, thriving 6 and 8 year olds. Both were born with hip dysplasia (probably due to them being in breech position throughout pregnancy). They were treated early and their hips are 100% normal now.

Keeping my fingers crossed for you xx

Rachyabbadabbadoo Wed 06-Jun-18 19:58:47

My odds were 1:75, and like you I found the wait awful. I felt so numb and disengaged from the world, and really didn't know what I would do if I got a positive result. One step at a time and deal with each step, try not to think too far ahead. The hospital were fantastic in offering advice and support, one thing a midwife said that stuck in my head was "it is most likely that everything will be fine, try and focus on that". It became my mantra for the next 2 weeks! (And it was ok too - as it is most likely you will be too).

Sparklesanddiamomdsforever Wed 06-Jun-18 20:02:03

My odds were 1 in 6, and it was honestly one of the hardest things I have gone through. My results came back clear of all trisonomys, I'm sure yours will do to as you have much better odds.

I found it helpful to read up on past mumsnet posts plus ARC were helpful to speak to flowers

Merrilymerrilymerrily Wed 06-Jun-18 20:08:12

I agree that the 'high risk' thing is scary, it felt to me that it really blew it out of proportion. As you say, the chance in your case is less than 1%. You are only 'high risk' in the sense of being at one end of a scale of risk, even though the reality is that your risk is very small. That's how I looked at it anyway. My 'high risk' did not materialise into any issues.

ER1212 Thu 07-Jun-18 07:19:31

Just to let you know we got the results yesterday and all came back low risk, the wait felt so long, hope yours goes quickly and you have a happy and healthy pregnancy 🤰

Mouse007 Sat 09-Jun-18 22:12:56

Thank you all, to those who have shared your experiences of having a child with Downs, and those who have gone through the agonising wait. I'm nearly half way through, just need to carry on keeping busy for a bit longer.

ER1212, that must be a weight off your shoulders! I hope the rest of your pregnancy goes well.

Iflyaway Sat 09-Jun-18 22:24:58

So sorry you are going through this stress OP when pregnancy should be a beautiful time.

I am a single mum. So blessed with him. Life has not been easy because kids never are. let's not even go there about his dad

But one thing I can say. I have a friend with a Downs Syndrome Child. He can't even talk. Her husband died of cancer (he was there for them both).

I don't know how she copes at all.

Life changes anyway when you become a mother. We need all the help we can get but most people don't show up when you need it, sad but true.

Wishing you ALL the best!

Devon123 Sun 10-Jun-18 08:52:05

I've just been through a similar result and had the IONA test, which came back in only 5 days not the 8 the hospital told me, thankfully all very low risk now. Can't express how relieved I was. I've spent since my scan scared and unable to really feel attached to the pregnancy. I don't think it's unreasonable to be scared or prefer to have a baby without DS, that's no bash against those with DS. There is much more chance that your test is going to come back as low risk, I know the waiting it horrid. Good luck x

LaurenSarah22 Wed 13-Jun-18 19:47:35

My risk was 1 in 24. After the NIPT it came back highly unlikely to have any chromosome abnormalities. The NIPT picks up 99.5% of babies with downs syndrome so try not to worry too much. The nhs combined test really isn't reliable

Mouse007 Thu 14-Jun-18 22:00:30

Thank you for your encouraging words. I got my result today, 1:50,000 risk. I was so relieved that I cried when she told me the result! Hopefully the rest of the pregnancy will be uneventful.

NightLion Fri 15-Jun-18 10:00:06

That is good news Mouse. Enjoy the rest of your pregnancy :-)

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