Scan at 13 +6....1 in 5 chance of downs....amnio test booked...advice please

[Piper0804]

Hi. I am looking to get advice please.....my partner and I are still in a state of shock after our scan yesterday. We were told that the NT fluid on the back of the babies neck measures more than 3.5mm (which was confirmed with a specialist and another scan later the same day) - its measuring at 3.8mm. It was explained to us what this could mean and we were then offered the amnio test, which I have booked for next Friday (when I will be over 15 weeks). I havent had any issues like this before...and it all seems to be happening so quickly, but I also feel like I am in limbo land.

I am worrying about whether I am doing the right thing with the amnio....given the risk of miscarriage. But from what I have read on the nifty tests they are not diagnostic tests and they also take a lot more time to get the results....has anyone got experience or advice they could give?

Thank you

[gina999]

Hello. I am sorry to read what you have written and I have no actual advice to give you as this has not happened to me. I have written back because i see nobody has responded. The only think I can say is that I know how it is to feel completely helpless and not in control of your little loved one in your belly. I had 2 miscarriages in a row, the last in April, one at 11 and one at 13 weeks. Have they explained to you what the risks are, e.g. the chances of the amnio test causing miscarriage. I can tell you that I have a friend who was told that their unborn child could have downs. they were given 20 minutes in the canteen of the hospital to make a decision ( I don't know why it was so rushed, maybe a late scan) but they decided to keep the baby and he was absolutely fine and perfectly healthy. I hope this helps? x

[firsttimer08]

Hello

I could be making a similar decision as you soon, so can relate to it. Do you think you would keep the baby irrespective? If so then the amnio does carry a risk. Otherwise do the amnio. How many more weeks do you have till the amnio?

The nifty takes 2 wks so if you do it immediately you may have results just in time? However nifty is also not definitive - there is an error margin unlike the amnio , as I understand.

I like to know things beforehand so I would probably do the amnio myself but after 3 miscarriages and this being the only so far successful one where I have made it to 12wks, it will be a difficult decision.

[KittyandTeal]

I'm sorry you are in this situation.

The amnio is totally diagnostic. You should get rapid results for the three major trisomies within 3 days (48 hours usually).

They give you a 1:100 chance of mc but different consultants have different rates and it is suggested the chance of mc is actually much lower. When I had mine I was scanned at Kings and they found 5 soft markers plus dodgy bloods before the consultant would do the amnio.

For us the decision was as simple as it gets. Our dd2 had Edwards which is incompatible with life, she had major heart and brain defects meaning that they gave us a very low chance of her making it to term then she would likely die very soon after birth if she made it that far (they were astounded that she'd made it to 22 weeks) so we opted for a tfmr.

With T21 I imagine the decision is harder as some forms are compatible with life.

Personally I would ask for a very detailed scan at a fetal medicine specialist hospital (we were referred to kings who were fantastic) as well as the amnio so you have an idea of other soft markers and possibleother issues if the amnio comes back positive.

I am happy to answer any questions about the amnio and termination if you want. I won't tell you until you ask though as every persons decision is different and right for them.

[sparechange]

I'm so sorry you are in this position.

I also had abnormalities picked up at a scan and opted for an amnio. As Kitty said, the miscarriage rate they quote isn't really accurate, and it is down to the skill of the consultant doing it. Mine was carried out under ultrasound, and they checked the baby's heartbeat afterwards, which was fine.

Good luck

[Piper0804]

Thankyou for your messages. ....it helps to be able to talk about it on the forum.....will have a proper read once I get my daughter to bed......

[Piper0804]

Apparently the Mc rate at derby royal is 0.5%.....so very low but I am still worrying. I think it is the right decision as both me and my hubby want to know. Hopefully this is just a blip. ...and then I can get back to enjoying being pregnant!

[mrscookie78]

I was in a similar situation a couple of years ago now, my ratio was 1 in 130 and the neck measurement was a little high (still within the normal rate) we chose to have the cvs done. My dh and I knew that was what we wanted. The cvs went well and there was a heartbeat after, but I was so worried for the next couple of weeks in case we had caused a mc by going through that test. My results took ages to come back as they weren't growing and then ages to culture. All was clear and he is now 17 months. Good luck and hope all goes well x

[NonnyBunny]

Hello, so sorry to hear you are going through this. I just wanted to offer you some reassurance. At 12 weeks we had 4.5 inch nuchal and were given a 1 in 3 chance of a trisomy, and were told that if not that, the baby could have a heart condition. We were totally devastated and expecting the worst.

We went for a harmony test privately - while is is not completely conclusive and cost £500, it is non invasive (just a blood test) and they will tell you if you are high risk (99.5% chance for one of the trisomies) or low risk (only 1 in 10,000 risk). After a grim 2 week wait where the hospital told us to expect the worst, the results came back low risk for all 3 trisomies. We then decided we'd take those odds and decided not to have an amnio. We are being closely monitored and have a heart scan in 2 weeks just to be on safe side but now at 28 weeks and everything now looks totally normal.

The consultant now says that in most cases with increased nuchal, things do work out fine (it's an indicator that there could be problems but it's by no means a certainly) and the extra fluid is just one of those things - they'll never know why it was there but it could have been caused by a heart defect that corrected itself very early on.

I'm thinking of those of you going through this right now and keeping my fingers crossed that your stories turn out like mine - its a miserable wait but there really is every chance things will turn out fine. I found some of the forums on here really useful- while there are sad endings -so sorry for what you went though, kitty, must have been horrendous- there are more stories like mine where things worked out fine, so hopefully you'll take some comfort from them. Good luck xxx

[SaggyAndLucy]

Hey. My dd has ds and like you we were told 1 in 5 at the 12 week scan.
I had a cvs which confirmed the diagnosis.
For me, there was only one course to take, she was staying around, but I needed to know.
For me it was the best choice I could have made. by the time she was born we were primed and ready and everybody new.
I know there is a small risk involved but as others have said it is small, some doctors have never had a loss, but you will know. soon. And I know well how hellish the waiting is.
on a positive note, my girl is 15 months now and she totally ROCKS! She's the best child I've ever had and I'm totally glad I made the choice I did. Even of the 'worst' happens, this can be an amazing thing.

[offbeatgirl]

Hello OP,

I had a cvs test for a pregnancy back in 2014, and read all the literature on miscarriage risks that I could. My understanding is that the miscarriage risk given for the procedure is very overstated, because it relies on out of date statistics. Amnios and CVS are now carries out while watching the procedure on ultrasound: back in the 1980s doctors didn't have ultrasound to guide them so there was a risk of the needle hitting things it shouldn't. That risk is virtually nil now.

The other thing to consider is the difficulty of distinguishing between miscarriages caused by the procedure, and miscarriages that would have happened anyway. Doctors now recognise that the rate of miscarriage in early pregnancy is, sadly, higher than they previously thought. So a certain proportion of babies unfortunately die in early pregnancy in any case. However, if a baby dies in a short period after a CVS/Amnio, it it attributed to the procedure, even though that's unlikely to be the cause. My baby was clearly very sick when I had my CVS, and I was running a really high risk of miscarriage in any case (although I didn't miscarry). Quite a lot of the babies undergoing a CVS or amnio are sick, so it doesn't surprise me that the miscarriage rate in the cohort of women undergoing a CVS or amnio is slightly higher than the average. This is probably why CVs has a higher quoted miscarriage rated than amnios - it's carried out at a slightly earlier stage of pregnancy when miscarriages are more common.

I hope that all makes sense, and helps you. Personally, I considered a CVS a small price to pay to find out what was going on with my baby (although there are some conditions that a CVs or Amnio will not pick up). If you go through with the amnio, I hope it gives you good news.

[mrsjskelton]

I'm going through something similar at the moment. I was asked to call the screening midwives immediately and was told that I was in the high risk bracket for Downs. My risk factor was 1/80 and I was just wondering what yours is? I sought the advice of a colleague who's risk factor had been 1/7 and after amniocentesis, her boys are healthy and happy. I have booked a CVS for Tuesday because I can't wait another 3 weeks for an amnio. The risk of MC is about 1% - less than my chance of Downs so I'm feeling confident. It definitely spoils the news and puts a dampener on things, my family are worried sick for how we are feeling and all my colleagues had to find out the news I was pregnant after discovering me in tears in my classroom before school started. I have my doubts about the risk factors because I can't believe as a white, 26yo healthy woman, I fall into the same bracket as the complete cross section they will have gathered their statistics from ... I.e. All races, heights, weights, genetic backgrounds... There must be room for error xx

[Piper0804]

Hi.....thanku to everyone for sharing your stories....It really helps. I am currently lying on my sofa at home after having the amino this morning.....having period like cramps but other than that I am fine. Hopefully set to get intial results next Tues if they are ready. We are feeling positive as the consultant and specialist midwife said there are really positive signs from the scan.....so fingers crossed.

[Piper0804]

My risk was 1/80 overall.....but because the fluid measured over the guidance it automatically put us at high risk anyway