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Antenatal tests

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12 week antenatal test showing high risk chromosome irregularities

22 replies

Woodcottage1 · 30/04/2020 12:52

Hello, today I’ve had my results back on my 12 week antenatal test, and I have a 1:100 increased risk of Down syndrome. I’ve booked a private NIPT test tomorrow. Just really upset. This is a long awaited baby and the embryo was genetically tested normal, prior to implantation. Anyone else experiencing this? Thank you

OP posts:
NoCallerID · 30/04/2020 12:57

Hi @woodcottage1,
I'm sorry you're going through this worry.
What are the reasons for your 1:100? Where there any soft markers on the scan (high NT, no nasal bone...?)? How old are you?

There are so many factors playing into this. 1:100 is basically a 1% chance that your child could have DS. It's terrifying to receive this result but you've done the right step to book a NIPT. Fingers crossed you get your results soon and that everything is ok. Sending love.

Woodcottage1 · 30/04/2020 13:28

@NoCallerID thank you, I have an elevated hcg level and I’m 40 years old. This is a desperately wanted baby. Thank you, fingers crossed x

OP posts:
lookingforsomehelp · 30/04/2020 13:29

@wood
I'm so sorry to hear this, sending you well wishes!
I had exactly this with my first pregnancy, my boy was 1:100 too, this was based on my age (34) at the time and my blood results, can't 100% remember NT but think it was 2.0, so well within normal range.
I, like you, was totally devastated by the information. I had the NIPT, took a week for the results and then thankfully got the result low risk. My now gorgeous boy is two and absolutely fine. I remember it being a very tough time, and it's much easier said than done, but try not to stress too much until you get the NIPT done. I think it's a lot more common than we think getting a high risk result.
As the PP said, was it your bloods too?
Sending good wishes!!

Woodcottage1 · 30/04/2020 17:10

@lookingforsomehelp @NoCallerID thank you for your messages, that’s making me feel much calmer.
I’ve actually been looking into science papers on this and it’s illustrating that the raised hcg levels which I have, can be caused by ivf, icsi, and frozen embryo transfer, all of which I had.

www.ncbi.nlm.nih.gov/pmc/articles/PMC6500076/

I’m taking positivity, that my higher free B hcg b/c its an IVF/ICSI/FET baby - teamed with the fact a neural tube of 1.8mm plus a nose bone.

Thank you for taking the time to reply x

OP posts:
NoCallerID · 30/04/2020 18:18

When can they get you in for the NIPT?

You've done your research at the raised HCG can very likely be from what you've mentioned. Everything else looks good!

I was 1:40 from the combined test only because of my bloods (hcg 4.7 papp-a 0.35 I think, high risk harmony test results on the same day...) but our baby also had Omphalocele, intestines growing on the outside which is sometimes linked to T21/more likely other trisomies, but not included in the risk calculations at this gestation.

Woodcottage1 · 30/04/2020 19:58

@NoCallerID thank you, hope your baby is ok, I’m sorry to hear that x my NIPT is tomorrow, I found a local clinic that could fit me in. Thank you for your message x

OP posts:
BrooHaHa · 30/04/2020 20:00

Hope all goes well, OP.

lockdownlowdown · 30/04/2020 20:02

Hope all goes well!

LeGrandBleu · 30/04/2020 20:07

My nucal tert was good, down syndrome around 1:1400 circa, but combined with blood test, it plummeted to 1:49

I was devastated, and fast tracked for amniocentesis. Which was absolutely fine.

The geneticist later told me that in some women, their alpha protein in their blood alters the test results.

So keep your hopes high @Woodcottage1

lookingforsomehelp · 30/04/2020 21:49

Good luck OP! I hope it all works out for you!
I hope everything is ok for you too @NoCallerID

Chester6 · 30/04/2020 21:53

We had exactly the same situation late last year after finally falling pregnant after 5 rounds of IVF. We were told our chance was 1/54. We were devastated but rather than risk the baby with the needed procedure we decided to pay privately for the harmony test which thankfully came back clear. It was expensive but so worth it. Just wanted to mention in case that could be an option for you to. Sending hugs x

Chester6 · 30/04/2020 21:53

Sorry I meant needle procedure x

JetsetJetlaggedJaded · 01/05/2020 01:41

I know it's hard but try not to worry about it. On my first, very long-awaited pregnancy, my risk came back as 1:7 which was an absolute hammer-blow, especially as I'm not particularly old so I knew that it wasn't going to be affecting my result. I knew that I would continue the pregnancy either way but I also know how it feels to get that piece of information and it suddenly makes you question all those internal assumptions and imaginations you have, about what your pregnancy and motherhood experience would be like.

I also found out by phone at the airport, about to board flight to the other side of the world for a 2-week work trip, so I had about 24 hours of plane wifi to do some very emotional googling, and had to wait until I got home to do the NIPT test.

The waiting was the worst part of it. I really felt like I was robbed of a month of my pregnancy joy. The NIPT test itself was fine the results were quite quick, and my result came back negative.

Like you, I did a lot of reading about what the individual results meant, and I wouldn't be surprised at all if your IVF pushing up your HCG result, plus your (slightly) older age have skewed your result.

If the same thing ever happened to me again, I would try to remind myself to try to stay as relaxed as possible and try to keep busy and not think about it so much.

I'd suggest that you take a moment to speak to your partner about it too - I was very surprised that my husband actually took the news much worse than I did. But try to to keep enjoying your pregnancy while you wait for the result; it's such a special time - especially when it's been a long time coming!

Best of luck with it, and with the rest of your pregnancy!

legfaced · 01/05/2020 03:46

My combined test came back high risk (1:114) for DS. I’m 35 and had hcg of over 4. NT and pappA normal. Age was the big factor - I had pretty much the same results with my son and was low risk,
but I’m 5 years older now And it shifted the risk.

I went for NIPT and it came back as less than 1 in a million for DS/Edwards/Patau.

TenThousandSpoons0 · 01/05/2020 08:53

Hope you’re ok OP.
Just thought I’d add a voice of reassurance as well - 1:100 is actually a lower chance than your age-related chance alone (which would be about 1:70), and the fact that you had normal PGS for your IVF is really reassuring as well. PGS isn’t completely fail-proof and I know you’ll be feeling anxious anyway but try to feel a bit optimistic while you wait for your result - seems by far the most likely that everything is absolutely fine c

Woodcottage1 · 03/05/2020 08:50

Thank you so much everyone. I will have my results in about a week. Have a lovely weekend and thank you.

OP posts:
LeGrandBleu · 05/05/2020 19:51

Fingers crossed for you

Woodcottage1 · 08/05/2020 08:52

Thank you, I got my results back last night. Everything is fine and I’m having a little girl. She’s already my princess 🙈🙈, I’ve been waiting a long time for her. Thank you for the lovely messages x

OP posts:
TenThousandSpoons0 · 08/05/2020 08:56

Hooray!! Congratulations on your wee girl, enjoy the rest of your pregnancy

JetsetJetlaggedJaded · 08/05/2020 10:19

Congratulations!

lookingforsomehelp · 08/05/2020 11:21

So so pleased for you! Fantastic news! 💕

LeGrandBleu · 08/05/2020 11:35

Best news of the day!
Congratulations! Flowers

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