High Risk for Down’s, Edward’s and Patau’s

[FenellaFurchester]

Really panicking.

My 12 week bloods have come back as 1 in 66 for downs and 1 in 36 for Edward’s and Patau’s. I know part of this is down to my age (39).

I’m a bit beside myself right now. Booked for NIPT blood test in the morning.

Does anyone have any experience to share?

Thank you so much and sorry you had that heartbreak.

Ill have the NIPT results in a few days, they said 7 - 10 but probably sooner.

I think I will give ARC a call.

My daughter has Down’s Syndrome - diagnosed by NIPT after getting a 1in3 result at the 12 week scan. So I have some experience although I know it’s not the same - just to say though that I’m thinking of you and should your NIPT indicate Down’s Syndrome I’d be happy to talk. If it comes back indicative of Edwards or Pataus then I’m sure they have resources and helplines too. I hope the wait goes quickly for you and your results are as you wish.

I would say that my experience with ARC, as someone not wanting to terminate for DS, was pretty crap. I was left more upset!

My NIPT has come back as low risk as it’s possible to be across the board.

Thank you so much for the support and good thoughts ❤️

Thanks for this post, I didn’t end up ringing them for this reason - I wouldn’t have screened for downs if I’d thought about it at the time, as it wouldn’t change anything for me and that would have upset me more.

@FenellaFurchester I'm so pleased for you. What a relief after such a scary time.

Good luck with everything and enjoy your pregnancy and baby now. Hard I know, but I wish this for you ❤️

Oh that’s great news! So pleased for you x

Would anyone here get a private NIPT test done even if their results came back as less that 1 in 5000? I am 39 and got these low risk results but considering just for extra piece of mind

I wouldn’t have had the NIPT if I’d come back low risk on the combined screening but it depends how you feel.

I do wish I’d either not screened at all or gone straight for the NIPT (knowing about previous low Papp A and my age), the combined screening has done nothing but give me a horribly difficult week.

I'm really happy for you @FenellaFurchester

Hello. I haven’t had a nuchal translucency check or combined screening or anything but I’m going straight to private NIPT testing because I’ve had a horrid time of things with years of infertility, ivf and a miscarriage and so I want the reassurance of finding out everything for sure.

If you get tested for downs, Edward’s and patau it’s about £475, to get downs, Edward’s and patau plus sex chromosome disorders is £550 and all of the aforementioned plus checking of all the chromosome pairs is £620. So I’m going for the full screening as it’s (relatively speaking) not much more expensive.

I think whether to screen or not is a deeply personal choice and there’s no right or wrong answer. I think I’m justified in my reasoning but I get why some people are against screening. Good luck with whatever you choose.

I’ve just started to go through similar, my scan was fine and the liquid was normal everything was there, but then 6 days later had a call to say I have a 1:36 chance of Edward’s and Pataus.
I am diabetic but it’s under control and I’m 31 so guess I’m classed as old. :(
I had fertility issues but I don’t think that has any factor into it. I’ve opted for the non invasive blood test on Tuesday from the phonecall I’m not sure if I should prepare myself for the worst!

So received a call today I was hoping to not receive. That my quad test has come back as high risk. I was unable to have the combined test at my 12 week scan as the baby was very active and couldn't get the image needed to check. They said all looked fine but had phone call my quad test is high risk with I believe she said 1 in 48 chance of downs. I am going into to see the midwife tomorrow to discuss options and the results as i was unable to process what she told me on the phone. I am 32 and this is my second baby. 1 in 48 sounds scary, please can anyone share any experience. My head is all over. Thank you in advance.

Hi @NP92hope you are doing ok. The next step after you see the midwife will probably be a NIPT (a non-invasive blood test) or they might offer you a CVS - a more invasive test. When I was in a similar position (10 years ago, and my chance was much higher at 1 in 3) I chose not to have the CVS because there is a very tiny chance of miscarriage associated with it and I wasn’t prepared for that. But it’s a deeply personal choice and some people opt for that test and the certainty it brings. In my case the NIPT took two long long agonising weeks and eventually confirmed that my daughter did have Down’s Syndrome. She is 9 years old now and a joy in every sense. Happy to talk and wishing you peace whatever happens.

Hi @DownRightAmazing

Thank you for your reply. I went for the NIPT test option. I was offered the amnio and was told the chances of miscarriage is very very low but I just didn't feel comfortable with it. Even if the NIPT still comes back high risk we have decided we most likely go for the amnio as no matter we know what we will do and that is continue with the pregnancy so no actual definite answer will change that. I just dont know how to feel as further along I am more people are knowing im pregnant and are totally unaware of this current situation we are dealing with. It is so difficult to come to terms with and so hard when people comment about oh you must be so excited etc... i feel so bad that I can't currently enjoy my pregnancy as much as I want to with all this uncertainty at the minute. I am high risk pregnancy anyways because of my diabetes and all the complications that can cause so even trying to enjoy pregnancy is so difficult and so anxious. I was the same with my daughter 8 years ago and look back and think why couldn't i have been less ancious. It such a scary time and i really have found so much comfort in peoples posts i have read.

Seriously...for Goodness sake.

@NP92 I can give you an idea of what happens if the NIPT comes back positive if that would help? Or perhaps you prefer to wait until you know what the result is before thinking about it? There is no right answer here, only what makes you most comfortable.

Please don’t beat yourself up for feeling anxious and ‘not enjoying the pregnancy’ - anyone would be the same, it’s a horrid time. When our NIPT came back positive I cried so much, I thought I would never stop crying. It’s so normal and not in anyway a reflection of how much you will love baby. Equally I should say I am completely prochoice and believe it’s 100% for each individual woman to decide what is best for them, no judgement.

Knowing what to say to people at this stage is tough, I didn’t tell many people outside of the family that I was pregnant. In the family my parents knew that there was a chance the baby might have DS - I needed them to help with my eldest when I went for a scan so had to tell them but otherwise we just kept info to a minimum for those two weeks until we knew what was happening.

@DownRightAmazing no I would love to know what happens please. At the minute it is just nice to hear other peoples stories and feel more reassurred everything isn't as scary as it first seems.

I just really wish we could protect our babies at all cost but unfortunately some of us have be that 1 out of so many people.

I will be 18 weeks Tuesday so trying to hide the bump is becoming even more difficult so now alot more are now finding out about the pregnancy which makes it so much harder to deal with.

I love this baby and whatever the outcome they will always be loved, that will never ever change

Oh @NP92I didn’t realise how far along you are - that does make it trickier. Did they give you an idea when you can expect the NIPT result?

Sometimes different hospitals do things differently but in my case: I had a phonecall from a nurse with my result, it was 99.5% positive for DS (I don’t know if they’ve changed how they report this because it was a new test 10 years ago). The nurse immediately invited me to come in and discuss a termination which I was shocked by; she in turn was shocked when I said I would be keeping the pregnancy. Anyway once everyone got over their shock 😅 I was scheduled for extra scans, midwife appointments and had consultant led care. I had a scan at 16 weeks with a cardiac specialist, this is because around 1 in 3 kids with DS are born a heart condition (often these are not serious). Anyway DD did have a fairly serious heart condition which we found out about at 16 weeks - the cardiac specialist was able to tell me a lot about what would happen at birth, early weeks and when surgery would happen etc, she was very reassuring. She did ultimately need fair major heart surgery in her first year, which wasn’t ideal, but we all survived and her heart is healthy now. For you this scan would need to be closer to 20 weeks if DS is confirmed, but I wouldn’t worry about that it wouldn’t make much difference.

After quite a lot of extra appointments, scans etc DD was born at our local hospital - they had a neonate doctor on standby just incase but she didn’t need any extra help at birth and came straight to me for skin to skin. She stayed with me on the ward.

It is a lot to think about and for now you are naturally just hoping to hear that the NIPT comes back negative and your pregnancy carries on as normal but whatever happens it will be ok, it will be Down Right Amazing!

@DownRightAmazing so I had my 12 scan at just under 13 weeks and they were unable to get the neck measurement for the fluid etc so wasn't able to have the combined testing. I was booked in for the quad test at just over 15 weeks and results of that took just under 2 weeks. Had phone call from MW and she said it came back at 1 in 48 chances and that i didn't need to have further tests or could have the NIPT test which would basically come back as high or low risk... if high risk we can then have an amnio to confirm for definite but that has risks.
It is so hard to process it all and we obviously pray for good results but of course this baby is so loved already.
How is your daughter now? How was it at birth aside from the cardiac issues?
Really appreciate all your advice and experience

@NP92I hope you get the NIPT results soon, just for the peace of certainty either way.

My lovely girl is 9 years old now, she is sat on the sofa next to me watching her fave TV show right now. She adores her (mainstream) school and was so excited to go back this week after the 6 weeks holiday! She goes to a great school (same one my eldest went to) and has a really supportive one to one who helps her to achieve her best everyday. Her general health is good, she has lots of little things as many kids with DS do - she wears glasses and hearing aids, her speech is very delayed. Things like walking and toileting took a lot longer for her to grasp but… she got there. She lives a full life, we go on holiday, we visit zoos and theme parks and play parks and libraries. Everything I did with my eldest I do with DD too. At birth she did find feeding difficult; this was mainly due to her heart condition. She slept a lot before heart surgery, it was almost impossible for her to gain weight but once surgery was done that all sorted itself out. Personally I’m glad she was my second, I was a more relaxed, confident parent than I was the first time round. Kids with DS take longer to reach their milestones but this has the advantage of a longer babyhood, so for my last baby it was as if I got to have a baby for so much longer.

@DownRightAmazing fingers crossed, MW said could take up to 5 days for results.
Thank you for sharing so much information, your children sound very lucky to have you.
And thank you for making such a difficult tike more understanding of the unknown.

Our experience is very similar to @DownRightAmazing. My superstar with an extra chromosome is 10, still at mainstream school (although we will probably switch to specialist for secondary). She experienced various delays in crawling, walking and talking - although she’s a proper chatterbox now! Before she was very verbal she was great at Makaton and knew over 100 signs. Although she didn’t have heart problems, feeding was tricky at first, partly due to hypertonia, partly due to tongue tie, but between using nipple shields and topping up with formula, she got there, and continued to breastfeed for 2.5 years. She can be impulsive and uncooperative, but also has the most wicked sense of humour and is a great big sister!

I’m actually glad she was our first as I didn’t have previous milestones to compare her to, so I was much more relaxed about her taking the scenic journey.

@curliegirlie thank you for sharing your story. Can I ask your background story, what was the chances of your little to have DS when you received the test back? Did you just have the NIPT test?
It really is nice to hear all these stories and advice at such a scary, hopeless time of waiting

She was one in 1,900 (and was that one!) on the combined test. We didn’t have the NIPT, as it was before it was offered on the NHS and, being 32, I was confident with the numbers coming back from the CT. So her diagnosis was postnatal. I went straight to the NIPT with her sister (low chance), and with this pregnancy (currently 19 weeks) I was referred straight to NIPT again (because of my history and being 43), got low chance, but also had the combined test, as they wanted the PAPP A reading, and I was stunned to see the DS chance come out as 1 in over 2,400, so my PAPP A and HCG levels must have been really good 🤣