Greater than 1 in 4 risk of DS

(7 Posts)
jmm499 Fri 27-Dec-19 16:27:35

Hi all

I'm not sure anyone can really help me as it's a waiting game really but just felt I would share my situation incase anyone else is experiencing the same. Last week (19/12), we went for the Harmony test at just over 11 weeks. I'd had it with my son as early as I could so we felt we'd rather skip the NHS screening test and go straight for the Harmony again this time. Unfortunately, at the scan the NT measurement was 4mm. I then had my 12 week NHS scan on Christmas Eve where the NT measurement had increased to 4.7mm and I decided to have the combined screening test whilst awaiting the results of the Harmony. Unfortunately they've only fuelled my worry as I was told this morning that my bloods (HCG 1.97 and Papp-a 0.38) - and I'm guessing age (38) and NT - have given me a 'greater risk than 1 in 4 for DS' (and low risk for Edward's / Patau's).

I've been told the Harmony results won't be in until next week, possibly after NY. I just feel in total limbo and go from feeling utter despair to seeing small glimmers of hope. We've had a rough ride to get here with 2 MMCs in the last 2 years, one of which I found so traumatic that I then developed PTSD. This January, we set about moving to a largely plant-based diet, taking high quality supplements and seeking advice from a nutritionist and herbalist to give it our best shot. But I guess there's only so much that's within your control...

Sending love to anyone else waiting on results at the moment xxx

p.s if anyone does have any advice or stories to share, all gratefully received x

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Jojo19834 Fri 27-Dec-19 16:32:09

Unfortunately no advice but would like to follow as considering the Harmony test in coming weeks. Seen other comments where people have done the Harmony as they knew they would be high risk under combined test and had different results from Harmony. Wish you all the best xx

EggysMom Fri 27-Dec-19 16:40:11

I was 39 when pregnant with our son, and I was given a 1-in-5 chance that he'd have DS from the blood/hormone tests done at the time. We opted not to have an amnio, as the results would not have changed our thoughts about the pregnancy and our desire for a child. We took the alternate view that there was a 4-in-5 chance that he wouldn't have Downs Syndrome.

He's now 10 years old and has a number of disabilities which ironically could not have been detected in utero; but he doesn't have Downs smile

jmm499 Fri 27-Dec-19 16:53:46

@Jojo19834 thank you. We went straight for the Harmony at 10 weeks with my son and when we got the results, they said I'd have been high risk under NHS screening (but didn't give any more info, or not that I can remember). But the Harmony results had come back low risk. I was relieved we'd gone straight for it so that we didn't have the anxiety I'm experiencing now! Things have been slightly different this time in that I was a little further along when I went in for the Harmony and so they could accurately measure the NT which is an indicator....

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jmm499 Fri 27-Dec-19 16:57:10

@EggysMom thank you so much for sharing. Yes I keep trying to flip the stats on their head! Xx

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Jojo19834 Fri 27-Dec-19 17:30:07

So at 11 weeks they could measure the NT and use this in the Harmony results? Just working out when to do mine as I have a higher BMI so don’t want to waste going too early as they do say that you ‘may’ need to retest. I have a private scan at 9+4 and will book in after once I know all is still ok (had one at 6+5 (saw heartbeat) as I am IVF so you get one pre-discharge, I’m only partly an addict!)

jmm499 Fri 27-Dec-19 18:17:37

The Harmony test is a 'stand alone' screening test (i.e. not definitive but very high accuracy). It picks up fragments of the baby's DNA. The NT measurement won't influence the outcome either way but they mentioned it at the scan as they could see it was increased beyond what it should be x

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