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Been booked for amnio in 2 weeks after 'bad' nuchal result.

(67 Posts)
pie Thu 17-Apr-03 16:53:52

I just posted this on another thread:


I went through all the usual stuff with the midwife, then they sent me over for an ultrasound. The sonographer umed and ered said there was a raised nuchal growth larger than 14 weeks should be. They sent me for a walk to get the baby to move as she wanted her supervisor to look at the scan. So the supervisor ums and errs. Then they send me up to the Centre for Foetal Care. The doctor asks what they told me down in ultrasound. I say only the raised nuchal fold.. Hes says so they didn't mention a massive growth on the spine?

Er no....

So he hooks me up to a state of the art 3D imaging machine, the only one in the country. After 50 minutes of poking he says he can't see any spinal or brain abnormalities. But as this pregnancy wasn't planned and hence I didn't take folic acid, he want to do another scan in 2 weeks to follow the spina bifida querry up.

Then he says I want to do a CVS and take samples for a Down's test as he has calculated my risk as 1 in 300. I say ok get it over with so that I can have those results when I go back in 2 weeks.

He preps me then stops before the needle goes in. He says that if he isn't happy with what he sees in 2 weeks re:the spine then he would have to do an amnio. So rather than do 2 risk increasing procedures in 2 weeks he'll do one amnio in 2 weeks for the Downs and if necessary spina bifida as well.




My questions are:

Has anyone gone through this nightmare and had a test that showed NO abnormalities?

Has anyone had a test that has shown abnormalities and what did they do?

Is there anything I can do to stop myself going mad whilst I wait for the test and then the results?

pie Thu 17-Apr-03 16:55:11

If this means anything the doctor said that the nuchal fold measured 3.

3 what???

Tamz77 Thu 17-Apr-03 17:30:13

Pie, i have no personal experience of this and am really sorry for the anguish you must be going through right now. However, I just wanted to make a comment about your calculated risk of Down's (1 in 300); it seems really low risk to me..?? In my local health authority area you get a blood test that can show increased risk of Down's and spina bifida, and they don't even give you a calculated risk (1 in whatever) if your assessment is a chance less than about 1 in 250. Similarly on another website I use a mum-to-be has just been given a pre-amnio assessment of 1 in 58 for Down's and she's decided not to have the amnio at all, as it is still only 1 in 58.

As for the rather vague measurement '3', I suggest you call your midwife for a chat about this, or do a websearch, as you might want to compare CVS vs amnio in terms of miscarriage risk and accuracy of results. I'm sure one of the mumsnet midwives will come in to this thread and reply anyway.

Good luck and take care.

tamum Thu 17-Apr-03 18:16:05

Pie, I have no direct experience of this, but have just had a quick look through some published studies of nuchal fold measurements. The 3 seems to be 3mm, which is the borderline they take as possibly associated with Down's. However, there is a significant false positive rate with this test (i.e. fetuses without Down's that still have an increased nuchal fold); in different studies the false positive rate is given as from 5% to as high as 20%. It's not much comfort, I know, but it certainly does look as though it's anything approaching cut-and-dried. Thinking of you.

WideWebWitch Thu 17-Apr-03 19:03:14

Oh pie what a horrible day for you. I don't have experience but 2 friends have. One is a close friend who had high risk results for downs for all 3 of her pregnancies. These were from blood tests with the first 2 and from a nuchal fold scan with the third. Because she was older by the third she went for an amnio which showed he was fine. Although she didn't have amnios with the other 2, all her children are fine, she just seems to always get high risk results. I'll find out what her nuchal fold risk was if I can and let you know. So yes, she had nuchal fold showing a high possibility of downs, followed by an amnio showing low possibility and the result is the 4 month old she has now! Another friend had high risk after a nuchal fold scan, had an amnio which established that there was a problem but *not* downs - he was born with a cleft palate. Her ds was back and forth to GOSH for about a year but is fine now.

I don't know if this helps but although I haven't been in this position I do know these women quite well and it did turn out OK for them. Also, it strikes me that he did say he couldn't see any spinal or brain abnormalities after 50 minutes, so that at least is a good thing, right? I don't know what you can do to stop yourself going mad, it seems so awful that you have to wait to have an amnio and I can't imagine how you're feeling. I agree, maybe have a chat with your midwife. FWIW, and I know it doesn't help, but it doesn't sound as if your scans and the results were handled very sensitively.

ScummyMummy Thu 17-Apr-03 19:21:01

Oh Pie, what an awful nightmare. Poor, poor you. I really hope someone with lots of expertise or experience of this will post soon. As I understand it none of your results so far indicate anything definite whatsoever, so you're in for a horrible waiting and wondering time but everything could still be absolutely fine. The doc didn't see any abnormalities so you don't know that there are any. I guess the not knowing may be the hardest thing? The nuchal fold test combined with your age is what they use to work out the Downs risk, I think, and I agree with Tamz77 that 1 in 300 doesn't sound particularly high risk though I don't know enough about it to say really. There are apparently many perfectly healthy non-disabled babies born who have had nuchal fold measurements of more than 2.5... I guess an amnio is the only way to be sure.
Oh dear, so wish I had answers and comfort for you but all I can say is hang in there. When my babes were in my belly they spotted a kidney abnormality in one of the boys but couldn't tell me what it meant and I didn't really understand- my partner and I were half mad with worry that one boy would be seriously ill but actually it was really minor stuff, completely medically insignificant. These scans really can worry you unnecessarily and I so so hope that is what is happening here. All my love to you, Pie and to your partner. xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

Marina Thu 17-Apr-03 19:40:11

Crumbs, Pie, you didn't get very caring service at your hospital today, did you? I am so sorry to hear of your latest concerns and worries.
I have not been in the same position as you myself, but I don't personally think that a 1 in 300 risk of Downs from a nuchal is that bad - although a lot depends on your age.
I can't really add much to the kind and helpful posts that others have already made here. Early scans, even on specialist machinery, are still an imprecise art and a lot is open to interpretation as the measurements are still so small. A year or so ago we were involved with a study to try and reduce the false positives on nuchal fold tests as there are so many of them. They are now working on a new combination scan that also checks nasal bone size. The nuchal scan is a great invention but does need some more work on it...
Thinking of you and hoping so much that at some point in this pregnancy you will get the peace of mind you deserve. Your consultant was definitely right to spare you two invasive tests within two weeks - and with any luck you might not have to have even one...

ScummyMummy Thu 17-Apr-03 19:42:41

Oh Pie, what an awful nightmare. Poor, poor you. I really hope someone with lots of expertise or experience of this will post soon. As I understand it none of your results so far indicate anything definite whatsoever, so you're in for a horrible waiting and wondering time but everything could still be absolutely fine. The doc didn't see any abnormalities so you don't know that there are any. I guess the not knowing may be the hardest thing? The nuchal fold test combined with your age is what they use to work out the Downs risk, I think, and I agree with Tamz77 that 1 in 300 doesn't sound particularly high risk though I don't know enough about it to say really. There are apparently many perfectly healthy non-disabled babies born who have had nuchal fold measurements of more than 2.5... I guess an amnio is the only way to be sure.
Oh dear, so wish I had answers and comfort for you but all I can say is hang in there. When my babes were in my belly they spotted a kidney abnormality in one of the boys but couldn't tell me what it meant and I didn't really understand- my partner and I were half mad with worry that one boy would be seriously ill but actually it was really minor stuff, completely medically insignificant. These scans really can worry you unnecessarily and I so so hope that is what is happening here. All my love to you, Pie and to your partner. xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

ScummyMummy Thu 17-Apr-03 19:44:31

sorry- was trying to refresh the screen, badly.

Angiel Thu 17-Apr-03 21:09:04

Hi Pie

My situation isn't exactly the same as yours but I do have some idea of what you are going through. When I was pregnant with my ds, I went to my 20 week scan and they found a growth at the end of his spine. Spina Bifida was suspected and I was sent to Kings for further scans.

I was extremely upset and very worried. The scans showed that there was something there but they didn't think it was too serious. My ds was born at home and he had a little bobble on his bottom, nothing too serious thank goodness.

I really hope that everything will be ok for you. I'll be thinking of you.

pie Thu 17-Apr-03 21:26:41

Thanks for all the support...

I'm only 26, so age wise I wouldn't think I'm high risk.

I had asked the midwife if I were to have a nuchal, she said no as it was too late, but she wanted the scan to see if my womb was still retroverted and if the fluid from my burst cyst had dispersed. (Yes to both btw). I know before you have a nuchal they are supposed to council you, give you the leaflets etc, so I was totally unprepared for any of this. My DH stayed home to look after DD so I was at the hospital by myself for the whole 6 hours. They were all very smiley and nice but no one took the time to sit down with me and explain what all this could mean. I just asked questions as I thought them up and I wasn't exactly thinking. They just seemed to be trying to make clinical disicions on the line of investigation.

I just want to know!!!

I'm registered disabled and my mum helps out loads, enough that she is a registered carer. I don't know if I could bring a disabled child into a family that already struggles to cope with my health problems whilst trying to bring up DD in as normal way as possible. But I already think of this baby as a person.

pamina Thu 17-Apr-03 21:52:10

Message withdrawn at poster's request.

Batters Thu 17-Apr-03 23:01:58

Pie, this must be an awful time for you. I went through something similar, when the midwives completely cocked up my test results, then got a letter from the hospital telling me that I had an elevated risk and did I want to discuss it further?

I ended up having an amnio the same day as I received the letter, the hospital were fantastic and the doctor stayed past his shift to give me the test. I then had to wait over 10 days for the results. They were without doubt the longest 10 days of my life. As others have said it was actually the not knowing that was the most terrible thing to deal with.

Personally I don't think the hospital have dealt with you very nicely. They must have guessed that you would be in a state in of shock. I can't offer you any reassurance, but I really hope that things turn out fine for you and your family. Take care and keep posting.

I am sorry that you are going through this terrible time, and

EmmaTMG Fri 18-Apr-03 08:41:19

Hello Pie, I can understand exactly what your're going through as when I was PG with DS2 my nuchal scan gave me a result of 1/16 of Downs and a 1/4 risk of a heart defect. These two results were double checked on the day by a consultant and he agreed with the first scan, giving the same risks. I was frantic with worry, as you absolutely understand.
I had a CVS test the following day and was told the results will take 2 weeks to come through. However the consultant who did the test followed them up and I got them back within about 5 days. There was no sign of Downs, which was the first result they look for, she said the CVS test actually looks for about 20 different syndromes and on first look they are all giving negative result. It took a few more days for the whole test to be completed, but thankfully they all came back with a negative result. I had to go to another specailist hospital for the tests on his heart, and they to all came back fine. In total I had about 8-10 scans between 12 and 20 weeks and each one gave a good result.
The consultant said that they cannot explain why the nuchal scan gave such a high result or why over the weeks the measurement got smaller, they simply said 'it's one of those things'. It didn't feel like that to us though.
The question about '3' you asked is almost definatley the nuchal fold mesurement, as someone else previous posted, as at the time mine was 6mm on a baby that was only 6cm, hence such a high risk.
I could go on and on here but I know you are probably going through all the same thoughts and feeling as I/we did so I stop now and hope I've been of some help.
I do hope everything works out Okay for you, I'll say try not to worry but that's impossible to do in this situation, but do try. Try and stay positive, another hard thing I know, as this really helped me and I felt strong and prepared enough for bad news at each appointmet, even though thankfully we didn't have any.
DS2 will be 2 in June and he's a normal little terror who did all the 'right' things at the right time and who easily gives his 4 year old brother a run for his money in the noise/mess creating competition they have everyday.
Take Care, Emma.

Wills Fri 18-Apr-03 09:44:03

Oh Pie - on top of everything else, I'm so sorry. As for getting through the next few weeks the only thing I can think of is a good book and to immerse yourself in being incredibly busy, but I know that doesn't work all the time. The other thing is of course to take up permanent residence on Mumsnet. Good luck and I'm sending you loads and loads of hugs.

zebra Fri 18-Apr-03 10:05:57

Here's a similar nightmare: friend of a friend had a 20-week scan with FIVE "soft" markers for chromosonal abnormalities. Hospital was so sure the baby had something severely wrong with it they offered termination on the spot. Mother opted for amnio, instead, and....

NOTHING. Well, maybe the baby still has cleft palate & club foot and whatever else they flagged up, but not a chromosone defect.

Try to immerse yourself in the good things in your life while you wait for the amnio test results (might be 2-3 weeks after the amnio, of course!), only advice I can think to suggest.

pie Fri 18-Apr-03 10:40:33

Well things feel a bit better this morning. My husband has actually been fantastic. He pointed out that this whole pregnancy I have been beating the odds. I got pregnant with my IUD in - 1/100 -
I stayed pregnant with my IUD in - 50/50 - I stayed pregnant when they took the damn thing out! - 25/100. This baby wants to be born.

So for the next 2 weeks I'm gonna think about the 299 chances there is nothing wrong as opposed to the 1, although I know its there. Then after the amnio I will still worry about the result and the increased risk of miscarriage. In fact I will probably have my first glass of alcohol for 3 years...

When the doctor worked out my risk calculation he tried to put the statistics into his computer, but they were over the limit as I am 14 weeks and he said this is because the program can't be as accurate after 13 and a half weeks. So he probably pulled the figure out of the bloody air.

I will keep you guys posted, thanks again I feel really supported

pie Fri 18-Apr-03 10:49:21

And please don't stop posting if you've been in a similar situation. Knowing that there are others out there helps SO much!

Ghosty Fri 18-Apr-03 11:39:32

Pie ... good on you for being positive ... you have a good DH obviously who has been able to put things into perspective for you ... keep it up girl!
FWIW ... I was told that the nuchal fold test could only be done between 11 and 13 weeks ...
Keep posting and let us know how you are ...

MrsS Fri 18-Apr-03 14:03:40

Pie - I know the anxiety you must be feeling. We did not have a bad nuchal fold result but two soft markers were found at a 22 week scan. I decided to have an amnio (which was scary but not too painful) and got the results back in 48 hours. Although I'm not an expert, I believe there are a couple of ways of analysing the fluid so that you can get the results back quickly, so it may be worth asking before you have it done.

GOOD LUCK

Marina Fri 18-Apr-03 19:24:43

Pie, I am so glad your dh said what he did. I know previously the pregnancy has been a bone of contention for you both. Please take good care of yourself and keep posting.

Rosy Sat 19-Apr-03 15:14:16

Pie - you must be very worried. It sounds to me like you were treated very unprofessionally by the doctors you saw. I know that you'd want to get a quick result, but CVS is quite a risky procedure, and it might have been better to wait until the next day, or until you'd talked to your partner to carry it out. So, on the positive side, even though you have to wait for two weeks, doing an amnio at 16 weeks keeps the risk to a minimum, and now you can get the result within 48 hours.

On the subject of risk, I think that the "1/200" rating is significant for the doctors because that's about the risk of micarriage associated with an amnio. But hey, statistics - it doesn't matter if you're the one in a million does it? It all depends what you'd do in the event of a bad result, or whether you feel you need to know one way or the other even if you'd continue with the pregnancy whatever the result. But as other people have said, it's overwhelmingly likely that everything's fine, so try and concentrate on that for the next two weeks, and keep busy on Mumsnet. (eg. Do your pants match your bra?) Good luck.

jinna Sat 19-Apr-03 16:37:22

hi pie
i had an amnio with my second boy - we went to the harris birth centre in London and they were brilliant - the actual procedure was quick and i felt nothing - they also did an ultra sound to check the heart - the initial results came back in a week and everything was fine - i now have a healthy 1 year old .
i wish you loads of luck

bundle Sun 20-Apr-03 15:39:00

Pie, how horrible for you to have to endure this. I can't really understand the whole cvs/amnio thing - if you had cvs the results would have been rapid, a couple of days, and you wouldn't have needed an amnio. also 1/300 isn't 'screen positive' even for someone my age (38) let alone a woman as young as you!! I had an amnio when my risk was 1/250 when I was 35 because I just felt jittery, but it was borderline screen positive. this time I had another amnio but for Edwards syndrome risk of 1/30 and would have terminated if it had been positive as it's a fatal conditon anyway. I hope everyone's kind words on here have given you some comfort and you get through this ok
ps both my amnios were in the clear

pie Sun 20-Apr-03 18:03:35

I know that CVS carries a greater risk of miscarriage. Also it can't detect things like spina bifida. As the doctor is concerned about this and Downs one amnio would be the more prudent, and safer.

I swear this board is the only thing keeping insanity at bay.

I read somewhere that about 95% of amnio results are clear. Anyone else hear this?

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