1 in 5...

[shrinkingbee]

Afternoon All,
We've had some news this week following 12 week scan (dated at 13+1) or raised NT of 3.9mm. We were sent the following day to another hospital to be scanned at fetal medicine , rescanned to get raised NT of 3.8mm.

Consultant and screening midwife said 1 in 5 chance of DS/Edwards//Patau syndromes, another genetic condition or a structural problem.

Physically on the scans, baby appears to be developing normally with 4 heart chambers, normal bone measurements, nasal bone present, 2 halves of the brain apparent which is hopeful.

I/we are beside ourselves with worry and have an amniocentesis booked for end of next week. Personally I am really anxious about this procedure itself. We have also been advised to have an NIPT test although this hasn't been booked in or mentioned just yet.

I have been researching as many medical/scientific papers as I can to educate myself - avoiding the horror stories where I can. There are some historical posts here on MN that have also given us hope.

Has anyone any advice? Any questions to ask when I next speak to midwife/consultant?

I know we can't do anything to change the outcome but this wait is torturous!

Thank you for reading.

Oh bless you. I am absolutely not here to give you false hope etc, but I’ve seen an awful lot of 1:2. I know 1:5 sounds very high, but it IS reassuring that the scan is structurally normal. Sending you all the love x

Hello, I didn’t want to read and run as I was in an almost identical situation a few weeks ago.
went for 12 week scan and was also dated at 13+1.
scan found a Nuchal measurement of 4mm.
we were given 20% chance of chromosomal problem, 10% chance of structural problem.
I went for a CVS a few days later. Fetal medicine advised us there was no point in the NIPT blood test as the CVS is diagnostic. The procedure was uncomfortable but more than manageable, and extremely quick. Rest of the day in bed with chocolate and trash tv.
We got initial results within a day ruling out Edwards, Patau and Down’s syndrome.
it took a little longer but our microarray has also come back negative.
The next step is a detailed anatomy scan at 18 weeks - next week.
i know exactly how you are feeling right now, it’s the most awful limbo. Watch lots of rubbish trashy series, be kind to yourself and take time off work if you need to. You have good reason to be hopeful and the odds are in your favour.
this is all still raw for me and I’m still going through it to an extent so I’d be more than happy for you to ask me anything.
Take care.

Thank you both for your kind comments. Everyone has been lovely around me and understanding but nobody quite gets it?
Everybody is just saying, Ahh let's just be positive! But the facts of 1 in 5 infront of you on the scan report it's kind of hard to bypass.

I am so glad @Shortcake06 your results came back with negative results and quickly - and thank you for reassuring me about the quick amnio procedure. I think I have just scared myself by researching too much, and seeing the length of the needle. It's funny as I'm not phased by blood tests or similar.

Please could you explain what you mean by microarray? Is that the genetic testing for the other conditions after ruling out Downs/Edwards/Patau?

Keeping everything crossed for you for your 18 week scan also - have they found anything out of the ordinary on previous ultra sounds? And have they said what monitoring after your 18 week anomoly scan will consist of?

Sorry for all the questions, it is just reassuring to know others are also going through this nightmare.

Ooh forgot to mention, they said because I am 13w 1d today, it'd be more realistic to have the amnio as opposed to the CVS as finding availability to do it at such short notice would be hard.

@shrinkingbee i felt the exact same as you with those odds. I was terrified and convinced the baby had a genetic condition. But he definitely doesn’t. I wanted to share that with you because I know exactly how you feel.
Please feel free to ask any questions, I will try my best to answer. I had the CVS done 4 days after my 12 week scan but I’m sure nhs areas differ.
I think the two procedures are pretty similar and honestly it’s a relief afterwards as you know answers are on their way. You get a scan before and after so it’s nice to see baby.
when you have the CVS and I’m assuming the amino too, you have to consent to two types of testing. The first is a rapid test that gives you fast results for the most common genetic conditions. The second is the microarray which looks at the genetics at great detail and can pick up tiny changes and more rare conditions. This one takes longer to come back.
my husband and I were also required to provide blood samples in case something unusual showed up in baby’s genetics, they could test our blood to see if we have the same.

Other than the NT our scan looked normal. After the 18 week scan we would get a detailed heart scan at 22 weeks, I will hopefully get more info on that when I go next week.

i have everything crossed for us both, and it is good to feel less alone. I don’t know ANYONE else in real life who has been through something like this.

@Shortcake06 thank you so much for helping answer those questions - please update the thread after your heart scan if you remember, take care of yourself.

This is such a good, clear summary. Every antenatal testing thread should have you on it! Sending you very good wishes x

So sorry you are going through this, the waiting is awful.

We had a raised NT of 5.6mm, they advised 50% chance of chromosome syndrome, 25% chance of baby being healthy and 25% chance of a heart defect. They gave us very little hope. We went with the NIPT which only tests for the 3 main chromosome syndromes and that all came back low risk. Not as exact as the amnio but I think it is still about 99% accurate. I chose not to have the amnio. I had scans at 12, 16 and 21 weeks - all looks well and no issues found. We also had the genetic blood tests on ourselves which came back clear. Also had the heart scan and that was perfect. I am now 22 weeks and will still have regular scans under Fetal Medicine. I still have worries as understand there are certain things that may not be picked up on the scan but am happy that everything looks as it should so far.

I know it is different for everyone but just wanted to say they don’t always find something seriously wrong with a high NT. Look after yourself xxx

Hi I just wanted to pop on to hopefully give you some reassurance about the amnio
(I just had one today as my risk is 1:2)
It was a really weird feeling but not painful, little uncomfortable but more strange than anything. The procedure was done quickly and they showed baby before during and after on the scan so can see everything us fine and the needle is nowhere near.
Slight aches from it now but nothing major, like a super light period pain.
Wishing you the best of luck with your tests and results!

Thank you all for your kind comments and sharing your experiences.
I had the NIPT test at lunchtime on Monday so I'm hoping I get the first lot of results at some point today.
We still have the amnio booked for Friday 27th and have kind of pushed the anxiety to the back of my head, and accepted it's just a test that has to be done, my mum is also coming along with me for support.
I'm feeling a lot better this past week, and less sick which helps.
I hope you're all keeping well.

@Sherlock30 have you had your results back yet from the amniocentesis? 🙏🏼

@shrinkingbee I had it done yesterday afternoon, they said it's 72hours to results once it reaches the lab which it will probably arrive today or tomorrow so expecting results early next week.
Going to be a looooong few days
How are you doing? The waiting, and not knowing is driving me loopy

@shrinkingbee i hope you are holding out in this waiting period. It’s coming around fast and I promise the procedure is very quick and not that bad. Stay hopeful as the odds are in your favour
@Sherlock30 you might get your results quicker, we got the pcr within 24 hours and the micro array within a week. Keeping everything crossed for you.

We have had our first anatomy scan with fetal medicine and everything so far looks normal. One more scan with them at 21 weeks to recheck the heart and visualise the things they couldn’t see because of baby’s position.
Hope this gives a little comfort to other people in this position.

Hi @Sherlock30 sorry for the late reply.. we've had a busy weekend with family birthday celebrations so it has been good to keep my mind busy I guess! I have felt so tired this week, I think as the morning sickness and nausea has worn off a little I do feel better but I certainly need an early night much more than before falling pregnant!
I am glad the results come in quickly for the amnio (although I guess never quickly enough!) and 72 hours sounds better. I am just looking forward to the appointment being over, so I know I have done what is needed & just wait for the results.
Over the weekend, I have spoken to a few people who have been through similar, and all things have turned out ok, but I can't help but wonder if it's us who sadly is the 1 in X chance, as it must happen to someone.
Please update the thread when you have you results, keeping everything crossed for you.

Hi @Shortcake06 thanks for updating, I'm really glad everything is looking good from your recent scan. I think once the genetic testing is over with (with hopefully good results) then it's a whole other worry to start investigating for structural problems.
I think how the consultant explained it, it was very matter of fact, and said if it isn't genetic gor us, then they will look to seek a physical problem as there must be a reason why the NT measurements were high. So I have felt all along, that even if genetic results come back well then we aren't out of the woods as surely there must be a physical problem - it's awful just like I'm constantly waiting for confirmation of the bad news.

In a more positive light; our NIPT results for Downs/Edwards/Patau came back as Low Risk which is great. But again this feels strange just being given a low or high risk, with no percentages or numbers to look at.

Sending positivity to you @Shortcake06 and please update when you can.

not me personally but my sis had the exact same 1.5 and I think the n.t was 3mm.

she didn't do the amnio and couldn't do nipt as results wouldn't of been accurate sadly due to vanishing twin .

my nephew was born in July and he doesn't have ds .

Hi, just wanted to update for anyone in the future

I have just had a call, the first lot of results from Fridays Amniocentesis is clear for the main 3 genetic conditions - good news so far.

Excellent news, OP, you must be cautiously relieved. Any idea how long to wait for other results?

Yes @BeachRide that's exactly how to describe it. Cautiously relieved!
The screening midwife said up to 10 days for further results. X

@shrinkingbee thats fantastic news 😃 every positive result is another big step in the right direction.
we have our second scan with fetal medicine next week.

@Shortcake06 how is everything going?

@shrinkingbee i had my second scan with fetal medicine. Baby looks completely normal and we have been discharged back to normal maternity care.
how are you getting on?

Oh @Shortcake06 that is brilliant. I am still staying at the bigger hospital still under fetal medicine. No other scans until 19th December (which I think may be just a growth scan ?) and a meeting with my consultant.

I also have a blood glucose test on Monday 23rd December! - beats the last minute Christmas shopping 😂

Are you having the glucose test?

@shrinkingbee did you get all the final results from the amnio? Sorry if I missed that earlier.
it’s good they are keeping an eye on things, I hope you are well supported!
No glucose test for me. Just back on the low risk midwifery led pathway, it’s all a bit weird after all the worry and stress!