High risk Down's Syndrome pregnancy

[Southy7]

Hi mums/dads/parents-to-be,

My wife and I recently discovered she is pregnant and we've been over the moon, believing it would never happen. My wife is 38 years old and we have today received alarming news from our 12 week NHS scan. The midwife called to say that the results show we have a 1 in 31 chance of the baby having Down's Syndrome which had terrified us. We have booked for an appointment for a Harmony test (NIPT) tomorrow evening which we understand is far more accurate, testing the DNA found present in the mother's blood and not factoring in her age.

We would love to hear from those of you whom have had similar test results with the NHS and those of you that may be able to offer insight and advice surrounding this scary news. FYI the NHS results show low chance of Edward's and Patau's (1 in 26,333).

I feel devastated at the moment, being one to dwell on bad news all too easily. Conversely my wife, although very concerned, is putting on a much braver face.

I look forward to your responses.

Thank you,

Southy7 😞

@Blizy and @Cheeseandwine91 I'm really glad that you both had healthy babies! Thanks for your messages.

The midwife has been in touch with my wife today and stated that the reason for our high risk of downs syndrome is due to a combination of factors including my wife's age and a slightly elevated level of HCG which gave a reading of 2.3. Apparently "normal" would be under 2.2. We can find only very little about HCG. We can't even see a record online of measurement parameters within which lies what may be considered a normal reading. If anyone with knowledge can help on this front that would be great.
The fact that my wife's PAPPE protein levels weren't mentioned leads me to believe that they fell within what's considered a normal range.

@mikey4 that must have been horrific news to receive. I'm so sorry that you're having to go through this. Truly I am. I'm also sorry I just posted another message without seeing your reply and responding to that first. It had moved on to the second page so I'm sorry if I came across as tone deaf by not responding.
Did they say why they are offering CVS over an amnio? Is it because you're under 13 weeks?
I guess from an outsider's point of view you have to consider that those invasive tests are diagnostic and will give a reading either way (admittedly with a very low percentage failure rate). So I would say on that alone there is a point to having it as based on their given odds you have a 1 in 100 chance of saving the baby girl. That's got to be worth a shot right?
Once again I'm so sorry that you're going through this and wish you love and light with whatever you choose to do.

@mikey4 I'm so sorry to read your post about your baby girl. My thoughts are with you.

Thanks so much, and I'm so sorry for my negativity, I won't give up on her of course and will absolutely go through with CVS, it just all seems bleak.
anyway, I won't post again as doesn't seem appropriate to your thread now, just sending positive thoughts and prayers to you both.
Thank you

Just to let you know I was 40 when I became pregnant. I was given a 1 in 30 chance from my blood results of my baby having DS. I was terrified. The only way to know back then was by an amnio but because the risk of miscarriage was too high a risk for us and I had already suffered an earlier miscarriage we decided not to have the test and continue with the pregnancy.

We were offered an in depth heart scan of the baby at 20 weeks which showed no abnormalities and I was placed under a Consultant as I was classed a "high risk pregnancy" as the baby could gave DS.

My daughter was born 5 weeks early by Emergency caesarian as I went into premature labour. She did not have DS and was very healthy.

Hi @Southy7,
I thought I'd share my story here, as it's pretty similar to yours. Last Monday I received the call on my combined test: screen positive with 1:40 of Down's syndrome. Absolutely devastated. My results read:
-NT 2.80 mm
-hCG 1.90 MoM (slightly elevated)
-PAPP-A 1.31 MoM (normal, phew!)
And I'm 39.
I found this paper on calculation of the risk of Down's syndrome, and I could put the stats against mine. Maybe it helps:
archive.wolfson.qmul.ac.uk/epm/screening/calcrisk.html
I also had the Harmony test on the 7 Jan, at UCLH, and today I had the call: low risk, 1:10000 for all trisomies. Massive relief!
Just keep in mind that for the combined test, the only measurement that belongs to the baby is the NT. And yours is quite ok at 2.40mm. And the scan went ok. The level of hCG varies from woman to woman, and your wife's is not very high. I've read about worse, with positive outcome. I think and hope your result will be low risk too. Fingers crossed! And also for that phone call to come sooner!

Thank you and apologies to those of you that have messaged that I've not had time to reply to.

By way of update, we received our results yesterday, much earlier than expected and we're elated to say that they show a less than 1 in 10,000 chance of the baby having any of the trisomies/syndromes. We are over the moon and were able to share the news of our pregnancy yesterday with friends and family. We're now looking forward to welcoming a baby girl into our lives this summer.

I want to say thank you to all that have posted here. It has been very comforting talking to you all. For those that are still awaiting results I wish only the best for you.

Thanks,

Southy 😘

Congratulations!! Relax and enjoy the pregnancy x

@Southy7 that is great news. Relax and enjoy looking forward to welcoming your baby.

Great to hear your update.

@northlondonette

Hi *@Southy7*, I thought I'd share my story here, as it's pretty similar to yours. Last Monday I received the call on my combined test: screen positive with 1:40 of Down's syndrome. Absolutely devastated. My results read: -NT 2.80 mm -hCG 1.90 MoM (slightly elevated) -PAPP-A 1.31 MoM (normal, phew!) And I'm 39. I found this paper on calculation of the risk of Down's syndrome, and I could put the stats against mine. Maybe it helps: archive.wolfson.qmul.ac.uk/epm/screening/calcrisk.html I also had the Harmony test on the 7 Jan, at UCLH, and today I had the call: low risk, 1:10000 for all trisomies. Massive relief! Just keep in mind that for the combined test, the only measurement that belongs to the baby is the NT. And yours is quite ok at 2.40mm. And the scan went ok. The level of hCG varies from woman to woman, and your wife's is not very high. I've read about worse, with positive outcome. I think and hope your result will be low risk too. Fingers crossed! And also for that phone call to come sooner!

Hi there, this illustrates just how brutal the age factor of the calculation can be, your figures are almost identical to mine, yet I got a 1 in 212!

Mine were:
NT: 2.8
BHCG: 1.9
PAPP-A: 1.51
I'm 37.

Looks like 2 simple years makes a HUGE difference in that horribly unforgiving calculation!

@Southy7 Glad your scare is over! Now on to all the other minor heart attacks your little one will invariably give you both!

@ThisMammaCat,
Exactly! Hopefully, NIPT will soon be introduced by NHS for all women aged 38+ before the combined test (as that's where the high risk category starts, given the age).
@Southy7,
So happy for you, guys! Enjoy the baby journey!

@Southy7 @northlondonette great news. :)
I had the call today with a 1 in 24 of downs, nipt booked for tomorrow. I never even thought to ask for my blood results but the nhs scan measurements seemed normal. I am 40, first pregnancy so fingers crossed.

I was in the same position last year, also 38 and had a 1:6 chance of ds. I had the NIPT which came back inconclusive TWICE! I chose not to have any further testing and waited until the birth for diagnosis. Fortunately my little girl does not have ds. I hope you get the same results.

@Blizy

I was in the same position last year, also 38 and had a 1:6 chance of ds. I had the NIPT which came back inconclusive TWICE! I chose not to have any further testing and waited until the birth for diagnosis. Fortunately my little girl does not have ds. I hope you get the same results.

If you read the thread you would see they’ve already had the results and looking at the date, had their baby too.