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1 in 33 chance for DS - now waiting for Harmony test results

(15 Posts)
vivedi Wed 06-Dec-17 09:56:23

Hi, I am new to mumsnet. I am 34 years old and currently 14 weeks pregnant.

We had our NT scan last week on Thursday. NT measurement was excellent at 1.5mm so I really didn't expect the call I got on Monday morning telling me we had a 1 in 33 chance of our baby having Down's Syndrome.

My blood test results are what increased our odds, as my free beta HCG was 3.09 and my PAPP-A was 0.29. Nevertheless, I am still shocked at how bad our odds are given that the scan showed no abnormalities.

My husband and I had discussed what we wanted to do in case it came back as high risk (never really expecting us to, though) and I managed to get us a private appointment for the Harmony test on Monday evening.

Because the appointment was in the evening, the lab will probably only receive the blood samples today, though, so we are still looking at another 5-7 day wait.

We are planning to keep the baby, regardless of the outcome of the Harmony test which is also why we opted for NIPT as we didn't want to take the risk of an amniocentesis.

The past two days have been tough, the waiting is so hard and I am so upset at the odds we were given.

Has anyone else here been in this situation or is anyone else currently waiting for their Harmony test results?

Bellamuerte Wed 06-Dec-17 10:56:36

I was upset with my NT result but the hospital said age is a factor in the NT calculation, so my blood results could be good and at a level that wouldn't cause concern in a younger woman, but my age (mid 30s) could drag the numbers down. I subsequently had Harmony which came back as low risk.

1 in 33 is still only 0.03%; try not to worry until you get your Harmony results.

vivedi Wed 06-Dec-17 11:05:13

Thanks. I was told it wasn't my age, although of course if you're in your early or mid 20s you start out with much better odds.

1 in 33 is actually 3%. sad I know that's still a 97% chance that everything is ok, but as far as odds for DS go, it is pretty bad.

SleepFreeZone Wed 06-Dec-17 11:12:41

I'm sure you will be absolutely fine. Fingers crossed for a good harmony test 🤞

Caspiana Wed 06-Dec-17 11:18:24

Just wanted to say best of luck. A close friend of mine was 1 in 4 so I have seen the worry the waiting can cause for someone and the toll it can take so my heart goes out to you. Her baby was absolutely fine and the overwhelming likelihood is yours will be too, but I know that until that’s confirmed the worry will be there.

Do you know about ARC a charity that supports people going through this?

UnderTheF1oorboards Wed 06-Dec-17 21:27:11

Oh yes, the ARC; previously known as Support Around Termination fot Abnormality. The OP said she will keep her baby, Caspiana.

OP, I haven’t been where you are now but my son has DS (postnatal diagnosis). Happy to answer any questions you may have. Good luck with everything, whatever your result.

Caspiana Wed 06-Dec-17 21:40:28

Well, that wasn’t my friend’s experience of them - she was going to keep her baby regardless and found them supportive, which is why I mentioned them. It was with the best of intentions.

OP if I have inadvertently pointed you in a direction encouraging termination I sincerely apologise, that was not my understanding of the organisation based on people I know’s experience.

JugglingMummyof2 Wed 06-Dec-17 21:58:23

Was the nasal bone visible at the scan? If not that is another soft marker but would be reassuring if it was. The chance is very low anyway at just over 3% but with your nuchal measure being small in addition it would make me feel a lot more positive for the 97% outcome.

UnderTheF1oorboards Wed 06-Dec-17 23:10:49

That's good to hear Caspiana. I wasn't being facetious though; they did used to be called that.

OP, you know yourself the overwhelming likelihood is that your baby is chromosomally typical but of course the wait to find out is tough. Here's a website that might make it easier.

I wouldn't think too much about soft markers. My son didn't have any (his nasal bone was present) and my odds with him were 1:1600. On the other hand, my friend's odds were 1:2 and her child didn't have it. Your baby will be lovely however many chromosomes he or she rocks.

vivedi Thu 07-Dec-17 07:14:24

Thanks for your replies!

I had a look at the ARC website and they appear to offer support with either decision. I may contact them if we get back a positive result from the Harmony test.

My ultrasound showed no soft markers and our baby had a visible nasal bone but I’ve also read while no nasal bone is a good indicator of DS, a visible nasal bone doesn’t guarantee no DS. I don’t think it was taken into consideration for calculating the odds either, at least no one mentioned it, it’s just clearly visible in the picture we got. At the scan I had when they took the blood for the Harmony test, they also did all the measurements including femur length and circumference of head etc. and all are normal for its gestational age.

I felt a little better yesterday evening but it’s almost like I don’t want to be optimistic about the result because then it will be even harder if it isn’t.
My husband is very optimistic and my best friend is also convinced the result will be negative for DS because of the NT scan.

UndertheF1oorboards, thanks I will have a look at that website.

JugglingMummyof2 Fri 08-Dec-17 17:01:11

You are right. It being present doesn't guarantee absence of DS, smaller NF measure doesn't guarantee absence, even 0.000001% chance of DS wouldn't guarantee absence but they are all positives and would reassure me (and did reassure me years ago while I waited for the CVS results to come through).
The wait seems never ending - I got the call 2 days earlier than I was expecting - I hope you get yours soon and all is as you hope.

vivedi Mon 11-Dec-17 22:26:02

I just wanted to give you all an update as we receiced the Harmony test results today. We got the all clear, low risk for T13, T18 and T21! I am so relieved! We also found out we are having a girl!
Thanks for all your replies and support last week!

Jessybear90 Tue 12-Dec-17 08:19:47


Your NT and bloods soun every similar to mine. But I was given a 1 in 86 chance.

They use the bloods combined with NT, your age, if you smoke and if you are diabetic to reach this "likelihood" and I'm guessing your odds are higher because of your age.

We had a private blood test as well, and came back all clear.

I have a good feeling about yours as well as your bloods are so similar. There really wasn't an explanation as to my the bloods were off but that's what caused the risk. As others have said in terms of percentages your changes of things being ok are still high.

I understand about the wait. We waited 7 days and it was the most painful 7 days of my life. flowers

Jessybear90 Tue 12-Dec-17 08:20:48

OP that's amazing news! Sorry didn't see your thread! gringringrin

JugglingMummyof2 Tue 12-Dec-17 16:46:09

I am very pleased for you - enjoy your pregnancy now and your little girl when she comes.

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