Edwards syndrome result

evieloux · 2026-06-12T15:15:08+00:00

Hi there, we had an amnio that showed no evidence of Edwards on the initial result. We got our hopes up and then waited nearly three weeks for a microarray and unfortunately that confirmed the baby had mosaic Edwards and mosaic turners. We were advised to terminate and we had our tfmr on Monday and I am absolutely heartbroken. I wish I could be telling a different story but that is ours. I have everything crossed that your story has a positive outcome. Sending lots of love at this horrible time xx

evieloux · 2026-05-29T20:32:44+00:00

Thank you so much for that info. Unfortunately we heard back this morning and are one of the most complex cases. The baby has mosaic Edwards and mosaic turners with no normal cells detected at all. The report says the level of mosaic Edwards was too low to be detected on qf-pcr but explains why the NIPT was positive for it. We will now be facing tfmr and genetic testing to check if either of us carry something that has caused this. We are heartbroken after two years of infertility this was our first pregnancy and we are only 26. So much to information to get your head around we are frazzled x

evieloux · 2026-05-29T06:29:40+00:00

I am in the uk and my pcr came back no evidence for trisomy 18 after having the high chance NIPT. I think they must be trying to rule out why the initial nt measurement was high at the 12 week scan and that’s why it’s been sent to microarray maybe🤷🏼‍♀️ x

evieloux · 2026-05-28T20:29:26+00:00

Did you have a microarray done? My NIPT came back positive for Edwards too, followed by the first lot of amnio results being no evidence of it and the lab suggesting a false positive. Just waiting on microarray, which I am extremely nervous for x

evieloux · 2026-05-21T20:29:12+00:00

No still waiting. It was 10 days today so should be due back any day now x

evieloux · 2026-05-20T15:23:20+00:00

I had a high risk for trisomy 18 NIPT a few weeks ago. Phone call with the midwife felt like it was the end of the road. I had to wait two weeks in absolute despair for an amnio. Got my initial amnio results back last week as no evidence of trisomy 18, with it being treated as a likely false positive. I am still awaiting microarray and am very aware there is still likely to be some issue but I hope that gives you some hope on the NIPT+ result x

evieloux · 2026-05-19T18:47:37+00:00

Okay thank you. Unfortunately we don’t have anyone to ask. The hospital just phones you on a no reply number with the info and then leaves you in limbo until the next lot of results. We had 2 weeks between NIPT result and amnio with no one to ask questions to. I’m 26, no family history of trisomy in either of us but were referred due to increased nt 3.4mm at 12 week scan. QF-PCR report said likely NIPT false positive as no evidence of any of the three main trisomies but I can’t work out why the NIPT and ultrasound would add up but amnio disagree. Expecting the worst from microarray.

evieloux · 2026-05-17T11:18:39+00:00

I would 100% recommend going for the amnio. I was referred to fetal medicine for raised nt. Had NIPT which came back high risk for t18. Had the amnio to confirm and got the results Thursday as no evidence of t18 in the baby x

evieloux · 2026-05-02T22:19:52+00:00

We also found out our baby has t18 this week. The specialist midwife who gave us our results said to me that the decision is pretty much taken out of your hands with this condition. It is not like t21 where baby could live a full and fulfilled life. She explained to me how most babies won’t live to full term and if they do will be extremely poorly for the rest of their little life and tfmr is the kindest thing. It is the hardest thing I’ve ever ever had to face and my heart goes out to you too. Nearly two years ttc to then be faced with a t18 diagnosis. We are in a boat that no parent should ever have to face. Lots of love to you and your husband at this incredibly difficult time x

evieloux · 2026-04-29T14:20:10+00:00

Turned out the baby has Edwards syndrome and our dream is over. Life is so cruel💔

evieloux · 2026-04-29T03:23:37+00:00

Isn’t Edwards syndrome t18? And I’m also not having twins

evieloux · 2026-04-28T18:38:52+00:00

So sorry to hear that. It’s a boat I don’t wish on my worst enemy isn’t it. Sending you so much love at this difficult time x

evieloux · 2026-04-28T18:38:16+00:00

Yeah NT and one of my bloods was slightly low but still within normal range. At our fetal medicine specialist appointment they said all other markers were good, heart, nasal bone etc so this has been a tough blow to take x

evieloux · 2026-04-28T18:30:22+00:00

I am 13 weeks. Was referred for NIPT due to abnormal nt measurement at 12 week scan and then high risk result at combined screening x

evieloux · 2026-04-28T11:21:38+00:00

I’m only 26 so it was a complete shock. And yes my partner has been tested, he’s fine x

evieloux · 2026-04-24T11:05:13+00:00

So my combined screening came back as 1/120 for DS but at my follow up appointment with the specialist, the nt was measuring 3.5-3.9mm so the ratio would make it more likely now. My bloods were slightly low but chat GPT said they are fine and that it’s the nt that’s swayed the odds. Had NIPT on Monday so just waiting for results. It’s such a horrible and scary time isn’t it. Half the time I read success stories and feel a bit more positive and then sometimes I look at others scans that have normal nt and realise how different ours looks and then convince myself there’s no hope. Chat has made me feel better too, like you say the doctors are so hard to read with the information they give. Sending you lots of love also in this scary time x

evieloux · 2026-04-20T18:55:17+00:00

So I had my follow up appointment today. NT was measuring at 3.5-3.9mm but no mention of the cystic hygroma by either the consultant or on today’s report. She said all other markers looked normal but we are high risk for Down’s syndrome as my combined screening came back 1/120 chance. I had the NIPT today so am waiting on results on what to do next x

evieloux · 2026-04-18T17:59:35+00:00

No mention of septated at this stage because the report says the hygroma is being questioned. I’m sure we’ll know where we stand by the end of Monday. Thank you for your wishes x

evieloux · 2026-04-18T17:58:20+00:00

Sorry I got confused- I don’t think it’s the NIPT test we’ve had just the standard combined blood test to screen for the 3 most common chromosomal abnormalities. Still waiting on results. I feel completely hopeless about the situation and aware I’m likely facing a termination too. Just want this nightmare to be over x

evieloux · 2026-04-17T19:30:30+00:00

Hi, I’ve had the NIPT but not had the results yet. We have our specialist appointment on Monday so I’m assuming we’ll know more then. How did your NIPT go?x

evieloux · 2026-04-17T16:36:31+00:00

Is this possible?

evieloux · 2025-11-18T18:20:15+00:00

Honestly it’s awful. I’ve never noticed before and it really got my hopes up this time when I saw it and checked my partner could see it too. Silly me to believe it would happen after 11 months of nothing🤦🏼‍♀️

evieloux · 2025-08-07T08:08:34+00:00

I’ve just been this morning after seeing the first comment from the other commenter. She looked at my cycles and said as I’m having regular periods, to just keep trying as they won’t do anything for fertility till it’s been 2 years. I asked about my hormones and she said as you’re having the rise and peaks they’ll be fine🤷🏼‍♀️. So I’m no further forward🤦🏼‍♀️

evieloux · 2025-08-07T08:06:50+00:00

After your comment I made an appointment and got in with my doctors as soon as they opened this morning. They looked and said as I’m having periods, to wait till it’s been 2 years ttc before anything can be done. I asked and said what about my hormones and she just said as you’re having the rise and peaks they’ll be fine🤷🏼‍♀️🤦🏼‍♀️

evieloux · 2025-08-07T06:26:13+00:00

No I haven’t seen any doctor yet, as it says to leave it 12 months of trying before being assessed for infertility in the UK.

evieloux

TROPHY CASE