High risk down syndrome help

[Katie070189]

Hi,

I am new to any forums and my sister said this is amazing for help and advice from people in similar situations.

This is my first pregnancy, me and my partner have been trying for over 5 years and evetnually got pregnant through our 2nd attempt of ivf and are over the moon.

I recently went for my 12 week scan (12w5d) on scan date and had blood reaults come back to say we have a 1:11 chance of our baby having t21, down syndrome, i am 31 and healthy so not sure how the results and chance is that bad.

Our results were hcg- 1.82, nt- 1.11 and PAPP A- 0.17 ( not a clue what these mean).

Our midwfe spoke on the phone for around half an hour, and don't think I took much in bar we are at high risk, i suffer from anxiety and its went through the roof since finding out, making me sick. But we have said under no circumstances will we be doing any invasive testing due to waiting so long to get this far through ivf. And really csng afford £400 for the harmony test.

With suffering with anxiety and now having to wait until the 23rd of july for my 20 week scan.

Has anyone went through this similar situation and offer help/ advice. I was so happy about this pregnancy and should still be the happiest time of our lives, now I am just very nervous and anxious.

😔

Hi Katie, firstly congratulations on your pregnancy.

I also had a high risk for DS from my bloods (NT measurement was fine) I had a pappa score of 0.19 which is very low and yours is a bit lower so I am guessing that’s a big factor for your high risk and I was told both HCG level and Pappa should ideally be around 1. I believe low pappa and high HCG can be an indicator of DS but can also mean nothing. Your NT measurement is really good so I would take that as some reassurance. Like you I suffer from anxiety and didn’t want any invasive testing but I was very lucky that my hospital also offered the harmony test for free. The results came back within a week as low risk (less than 1 in 10 000) this is still a screening test but is much more accurate and all my scans since haven’t showed any markers. Low Pappa can be mean a few things such as lower birth weight etc but you will be offered extra scans to monitor this which I have found reassuring.

Just remember You still have a much higher chance that your baby will be absolutely fine and the nhs screening tests do have a lot of false positives and can sometimes cause a lot of anxiety and stress. 23rd of July does seem a long way away but in that time you could maybe contact arc who will offer your lots of really good advice and support. X

www.arc-uk.org/ 😊

I have been there op. Literally on my knees crying in the kitchen. If I could go back I would say "get up you Wally, your baby is 100% perfect and will become your world."

I had 20 weeks of planning for a baby with downs that I didn't get. I honestly think that's the strongest I have ever been. I had a mantra for the panic which would spiral into 'what ifs' up to what will they do when we die. My mantra was "I will make it ok."

I did pregnancy yoga which really helped. And I found three good things every day to feel grateful for.

Sorry you are going through this.

I recently went for my 12 week scan (12w5d) on scan date and had blood reaults come back to say we have a 1:11 chance of our baby having t21, down syndrome, i am 31 and healthy so not sure how the results and chance is that bad.

I was 28 when I had a T21 pregnancy, was told by midwife for my age was 1 in 1800 chance of it happening. I guess someone has to be that 1 and it was me.
My scan and blood work put it down to 1 in 10, then CVS confirmed it. I chose not to continue the pregnancy. I had a healthy baby before my T21 pregnancy and another healthy baby after.

Good luck

@Katie070189

Like you, I had IVF and had been trying to conceive for over 5 years! Totally over the moon to get a positive result.

I had my 12 weeks scan just over a week ago and too was told I am high risk with a 1:23 chance of the baby having Downs Syndrome. It came as a shock as I had thought the NT result was a good indicator, and because of COVID19 I didn't receive my pregnancy pack with the leaflet in about the testing and how it works until the day of the scan!

I am 36 and my results were:

6.82 MOM Beta Hcg (so 6 times above the average)
1.32 MOM PAPP A (said this was normal)
2.5mm NT

I was offered an appointment the next day with a consultant who did another scan to check all measurements (NT, femur, head etc), and all was OK. Because of the position of my placenta, he said he wouldn't be able to perform a CVS and the Amino test can't be done until you're over 15 weeks. So the only option was the Harmony test, which I am not having to pay for, so maybe you could ask for this too? We should get the results back in about a week.

Our consultant did comment that the combined test isn't really the best test for IVF pregnancies, because of the hormones that we've taken (including the HCG!). I would definitely ask if you can have the harmony test and try not to worry, which I know is easier said than done as I have been but from reading various threads on here it seems that the combined test is not to be wholly relied on...and at 1:11 you have over 90% of having a baby without Down's syndrome.

@Katie070189

How are you? Did you ask about the Harmony test?

We had our results back today which confirmed the baby does not have DS, it has been quite a challenging week.

Hope you're doing ok x

Hi everyone.

Thank you so much for all your help and advice, has taken me this long to get a new phone as my old one broke.

We ended up getting back in touch with the specialist at the hospital, asked them about the harmony test, however our hospital do not offer this service. Said if we are wanting the blood tests we have to go private and are looking at around £400.

After having a long discussion with my partner though we both decided the invasive part just isn't worth any of the risks, and we both wouldn't care whether the baby has down syndrome or not we would love it regardless as it is probably the only baby we will have with it being through IVF. So we are just taking the chance and have a little look in 5 weeks time on the 20 week scan, see if there is anything clear then, otherwise we really don't mind.

I have also found it really difficult getting in touch with my midwife, not sure if its because of this cover crisis, however my doctors will not hand over their contact details, everytime I call they have to refer me! So finding it difficult getting much if any more advice x

Hi @katie070189

So good to hear you are feeling better and that you've been able to come to a decision that is best for you. We too would have still gone through with the pregnancy, it would have been a little different but as you say, you'd love the baby regardless.

I have my first face to face appointment with my midwife tomorrow, up until now she hasn't been very active but I think that is fairly normal until you see them around 14-16 weeks. But I was given the phone number to the Community Midwives in my area and there is always someone there, or you leave a message and they call back - do you have that? The number might be on your Maternity Notes folder.

Keep positive, keep enjoying the pregnancy and I wish you all the best! x

@Missdrifter suggested ARC - do give them a call. They were brilliant at talking me through all the options when we had a scary screening result. Sounds as if you have made a decision but it still might be worth talking it through. I’ve never called a helpline before or since but was glad I did.

Hi, congratulations on your pregnancy and please don’t panic over the combined test result. Either your baby doesn’t have Down’s Syndrome or you are at the start of a journey that is slightly different to what you were expecting but still wonderful.

There are loads of great websites that give an insight to life with a child with Downs. Positive About Down’s Syndrome is a great place to start and the Down’s Syndrome Association has lots of really useful resources for new and expectant parents, as well as links to local support groups. On Facebook you can take a look at Don’t Be Sorry (about a wonderful 7 year old called Oscar) and I am River...

My little girl is nearly 5 and an absolute delight, can count to 10 and sing along with many many nursery rhymes!

We had a very similar situation. IVF pregnancies apparently often give an unusual set of blood results. We were told 1:8 but our DD was absolutely fine and it was just my blood skewing the test results.

Congratulations on your pregancy. Ok it,s no turning out how you planed ut then when does it ever. The Downsyndrom association is a good resource and look at the don,t screen us out campaign, Also Mencap can be very useful.

I hate to say it, but I felt ARC made assumptions slightly when I rang. They seemed to be leading me to consider ending the pregnancy if the result was positive. It could have just been a bad day, I know, or I could have misunderstood and they were just trying to get me to consider all the options, but I didn't find them as great as others have said in the past.

@SerendipitySunshine there are probably a few more shades of grey than this, but I think in general the people who have found ARC useful are the ones that have ended up terminating, whereas parents of children with DS etc. worry that as you experienced, they’re a bit eager to push expectant parents in that direction. This is all hearsay though as I have no direct experience myself...

Yes, we had a similar experience with ARC. The assumption seemed to be termination, even though that wasn't what we wanted. I can see why they help people to look at all of the options, and they may just have been trying to take any guilt away if that's what we'd chosen to do, but at a hugely difficult time, it wasn't what we were looking for. We found the Down's Syndrome Association much more helpful, although in the end our baby didn't have any genetic issue. Thinking of you OP. You are doing brilliantly.

I found myself in a similar situation, my HCG and NT were fine but Papp A of 0.21. We were given a 1 in 101 chance of Downs. Like you we had conceived after several rounds of IVF and didn't want any invasive testing so we paid for a private scan with a fetal medicine doctor who checked for various soft markers of Downs and recalculated the risk as much lower. It reassured us but played on my mind for the rest of my pregnancy. Interestingly she said that low papp a is really common in IVF pregnancies, and if she had just seen our results and i hadn't said anything she would have guessed it was IVF from the numbers. DD was born healthy, it was at 38 weeks and she's quite small so maybe that's related to the low papp a who knows. I had growth scans and a couple of consultant appointments during the pregnancy which was reassuring. I do remember how anxious I was to be told we were high risk, we would have loved our child regardless, but it felt like yet another thing to worry about after such a tough journey to get there! Best wishes for the rest of your pregnancy

That’s so interesting about ARC - I had been planning a invasive diagnostic test before I spoke to them and afterwards I decided to continue with the pregnancy regardless. My DS has none of the conditions we had been worried about, although he does have a genetic condition which was not diagnosable with ante natal tests (but is overall healthy and happy!).
But anyway it sounds as if you have a plan in place which is great - not brilliant that you can’t get hold of the midwives though. I’ve had lots of contact with the NHS on various issues in the last fortnight, and they are meant to be open for business for most things so definitely worth persevering - perhaps ask your GP if there is an alternative contact number?

Perhaps that was how they were trying to guide me to. They kept asking why I wanted to have more testing if I was sure I would keep a baby with DS. For me, I wanted to know so we could prepare as a family. Maybe that was illogical, I don't know, but in a situation where we felt so out of control, more information was really helpful for me.