1:20 chance of Downs HELP and Advise please.

(67 Posts)
plumblusher Sat 17-Sep-11 16:08:08

Please help,went for my 12 week dating scan and nuchal test last wednesday. I'm almost 14 weeks, midwife phoned me today (Saturday) to tell me I had a 1:20 chance of DS. She said I can have a CVC on Tuesday or wait til I'm 16 weeks and have an amnio. I'm so shocked and confused DH is at work and I feel I have no-one to talk to about this. She said the risk of miscarriage for the CVC is 1:100 and amnio is 1:150. I am 35 and although I have a healthy 5yr old DD I have had three previous MC's. What do I do? Any advice greatly received. I bled for two and a half weeks at 6wks and presumed I'd already lost it,but an early scan showed a heart beat. I definitely want to know but which procedure do I opt for? HELP HELP HELP.

OP’s posts: |
Truffleshuffler Sat 17-Sep-11 16:14:59

So sorry plum, I think that you should wait the 2 weeks for the amnio as it is less risky, (because if you did have the CVC then MC you would feel really guilty on top of everything else) although that is easy for me to say as you'll be stressing and will want to know one way or the other right now. Maybe do a bit of online research about the procedures before deciding which one you feel comfortable with?
Hope this helps x

plumblusher Sat 17-Sep-11 16:24:39

Truffles I'm so grateful for your reply-I'm actually in tears! I'm torn because I dont know whether I can wait two weeks. If I have the CVC I'll know next week, am I just being selfish?

OP’s posts: |
Truffleshuffler Sat 17-Sep-11 16:40:32

There is no right answer Plum but I think you can wait two weeks, just pretend to yourself that there is no option of the CVC.

DontTellAnyonebut Sat 17-Sep-11 17:01:34

The rates for a miscarriage having a CVS should not be that high. Where are you? Can you get to Prof Nicholaides in London? My doc, who was trained by him has a rate of less than 1 in 200.

I have had 2 cvs for around the same odds as you, one actually a lot worse. There is lots of information, but basically your odds are given by soft markers (NT measurement, nasal bone, bloods and age). They could indicate something is wrong, but certainly do not mean something is wrong. If your odds were 1 in 10,000 you could still be the '1'.

The cvs tests for the main syndromes, DS, Edwards, Pattau (which are fatal) and for sickle cell. It also checks CF (i think) with 85% accuracy.

I would not hesitate to have another CVS. Both my two children are fine.

herecomesthsun Sat 17-Sep-11 18:59:39

Prof Nicolaides told me about a month ago that his risk from CVS is 1 in 500 and that this is lower than the risk for amnio. If he does a CVS on a Weds you can get the result back on a Friday by 3pm. As long as the procedure goes well, you would then know that a significant part of the risk was over. That is to say, if the procedure goes well, the extra risk of miscarriage after that is supposedly 1 in 1000.

I had a risk of about 1 in 135 according to the NHS and 1 in 18 according to the Fetal Medicine Centre. In the end, hubby and I decided not to do through with the CVS despite the low risk, because I very much want this baby, and would have found it very hard had anything gone wrong with the CVS, and he thinks terminating for DS would be wrong, so we are living with the added risk. We are thinking we would go ahead anyway with the pregnancy, so there is less point with incurring added risk. We knew I would be likely to be a bit high risk because of my age (I am 47) so we were living with that anyway, and the chances of another pregnancy are low, we were lucky to have this other chance.

However, if I were to have had a CVS I would have gone to Prof Nicolaides, and I was tempted, as Prof said there would be value just in knowing.

herecomesthsun Sat 17-Sep-11 19:03:33

Oh, also, bleeding can affect some of the blood results (I would have to look it up again though, exactly how) so I wonder whether that could have artificially pushed up your risk a bit?

ghislaine Sat 17-Sep-11 19:23:03

Hi Plumblusher,

This must be a very worrying time for you, and it's not surprising you can't think straight.

I think there are a few things to take into consideration. I've had cvs twice, once with a 1:2 risk for T21 (it was T21) and once with a 1:1896 risk (it wasn't). Neither resulted in a miscarriage. I've never had a miscarriage, so that wasn't a particular fear for me, although I can understand why you would be scared to do anything that would increase your risk of miscarriage.

So, a few things -

Do you know what has led to your risk? As DontTell says, there are soft markers which indicate a higher risk of Down's syndrome: NT measurement, blood hormone levels (PAPP-A and beta HCG), blood flow between the liver and the heart (the flow through the ductus venosus), and the blood flow between the chambers of the heart. Not all hospitals use all these markers so you may not have all this information.

Some of these are more indicative than others eg 85% of babies with tricuspid regurgitation (the heart marker) also have Down's. Reverse flow through the ductus venosus also strongly suggests Down's. My first baby had both of these, which meant the likelihood of him having Down's has probably more than 50% even though his NT measurement was 1.5mm.

Secondly, your risk of Down's is currently 5%, and your stated miscarriage risk is 1%. So the likelihood of your baby having Down's is 5x the likelihood of you miscarrying from cvs. This will only change to 5% vs 0.67% with amnio. Only you know whether that's even of a difference to make the wait worthwhile.

Thirdly, as herecomesthesun says, the quoted rate for cvs (and amnio) is very out of date. In the hands of an experienced practitioner, it is much less. That's why I went ahead with a risk ratio of 1:1896 the second time even though most people will probably think I was a fool to do so. The rate also stems from research done in the 70s when they used to do cvs and amnio blind (no ultrasound, they just palpated the uterus and went in with the needle). I confirmed this with my consultant at the second cvs. So it is much safer now but they can't update the stats because no woman would agree to blind cvs when ultrasound is available! And, if you have cvs/amnio, many miscarriages that do occur, occur not because of the procedure, but because of the underlying health of the baby. But no-one would be able to pinpoint why the baby died, so it is attributed to the procedure because that is the unusual intervening event in the pregnancy.

I wish you all the best in making your decision - do come back and ask more questions if it helps, I know how awful it is to be faced with the prospect of something being wrong with your baby and wanting (and waiting) to know the truth.

ghislaine Sat 17-Sep-11 19:24:17

Sorry, enough of a difference.

RockyRoads Sat 17-Sep-11 20:45:05

Hi Plumblusher

I was in a similar situation about 6 weeks ago (with odds of 1 in 3) and opted to have the CVS. I wouldn't hesitate to have it done again - the procedure itself was fine and it gives you your answers a lot earlier than an amnio. I got an initial 'FISH' result within 24 hours (for the three well known chromosomal disorders) and the long term results for more unusual disorders after 15 days or so. As people have said above, I think mc risk quoted is out of date and, in any event, can be minimised by the practitioner who undertakes the procedure.

If you can think ahead this far, the step after CVS is a heart echo and abnormality scan at 20 weeks or so. This is an extremely long wait (I feel like time has stood still), but the benefit of having had the CVS is knowing the status of any chromosomal abnormality. In my case the results were negative, which is comforting, but if they had been positive, knowing early would have helped me greatly in terms of next steps.

It's such a personal choice, and I completely understand your dilemma, however a lot of people place great value on CVS as an early diagnostic tool so I would not rule it out completely.

Please let us know how you get on, it's such a horrible time and sometimes good to get things off your chest in a safe, anonymous forum.

herecomesthsun Sun 18-Sep-11 03:36:10

Hi again. Hope you have been able to get some sleep tonight. Just a couple of things.

If you went for a different CVS provider - one with a better risk for CVS like the Fetal Medcine Centre - then it seems they would routinely do another scan and bloods 1st. When I went to the FMC they checked for different soft markers and used different baseline odds for age. There are people on mumsnet who came away with a very different set of odds - in my case it was worse but for other people it was very reassuringly better.

I also had had 3 mcs and know I have a tendency to bleed a lot afterwards. That made me more wary of having a CVS because it involves a sample being taken from the placenta and I did not want to risk bleeding. I should say this was more a gut feeling than based on hard scientific evidence. I would discuss the issue that you previously had bleeding though, it does feature in some protocols for CVS as a consideration.

I did discuss the options at length, both with a midwife from the team looking after me and with the ARC which was very helpful. They are open (from 10) Mon - Fri here 020 7631 0285.

Wishing you peace of mind and the eventual results that you want x

LaLaLaLayla Sun 18-Sep-11 03:40:47

Yea, go to Prof Nikolaides. According to his nurse, he has never lost a baby. We were in the same position as you. We spent all our savings on our CVS with Prof N (400 quid!) but it was worth it.

herecomesthsun Sun 18-Sep-11 07:32:28

It was £180 for the scan but would have been another £320 for the CVS, so a total of £500.

EttiKetti Sun 18-Sep-11 07:41:17

I am sorry for your shock, having been there myself, I know the worry it causes.

I hope you've been given a little more than.your OP suggests, in that you were advised to consider what you will do should you end up with a positive result after further testing. You also need to be aware this is a risk factor, and even ladies with a 1:35000 risk factor can be that 1.

I only mention all this as sadly in my experience, I've found these tests are not explained and counselled for clearly. Only you and your DH can make the decision on testing, but I wish you well with your decision and results.

plumblusher Sun 18-Sep-11 09:58:18

Thank you all so much. I did manage to sleep last night,think i'd spent the whole day worrying that it wore me out. I live in Shropshire so the travel down to London is not an easy choice for me. Ghislaine your message was really helpful and informative. When it is put into a percentage number it doesnt feel as scary. Didnt realise also that early bleeding/spotting can affect bloods.I haven't really been told the reason behind the diagnosis just that the baby's measurements my age and my bloods combined produced a 1:20 chance. Having read all the posts here and elsewhere I do feel less scared about a cvs. Just think I'd send my self potty not knowing for 2 weeks, waiting for an amnio. Whatever the outcome I just need to know so that I can deal with it in my head. Honestly I am so grateful to all of you on here for giving me your time and posting it really has helped so very much.

OP’s posts: |
plumblusher Sun 18-Sep-11 12:51:54

Hello again ladies,have just spoken to my midwife and asked for a bit more information about my results. She said that the nuchal measurements from the baby came back normal, the problem was my blood results. I tried to book the appt for the cvs test on Tues but DH cant make it so I'm booking it for Thursday instead. She also said that they may not be able to do the cvs because of how far along I'll be at the time and it may be that I have to have the amnio anyway. Was tempted to go on Tues on my own but DH wasnt keen. It's going to be an agonising few days.

OP’s posts: |
LaLaLaLayla Sun 18-Sep-11 15:36:21

So, if you went on Tuesday could they do the CVS?

plumblusher Sun 18-Sep-11 16:37:55

Not necessarily, midwife said they would give me an ultrasound to see the position of the baby and go from there. The same will apply on Thursday too, they do an u/s then decide whether the baby is in a good/safe position for the procedure i think? The appt is booked Thursday at 10:00 so I will just take it from there. Apart from my DH I've not told any family or friends about my situation so MN has been a god send.smile

OP’s posts: |
BaldricksTurnip Sun 18-Sep-11 20:45:56

No helpful advice but thinking of you and really hope you have a positive outcome x

chipmonkey Sun 18-Sep-11 21:38:55

plumblusher I am wondering if what happened to me may have happened to you?

I had a big bleed in early pregnancy and passed a clot about the size of a plum. I really thought I had miscarried but when I was scanned the doctor found a baby with a heartbeat.

When I went for a further scan with my obs he pointed out a second empty pregnancy sac beside the one with the baby so it seemed that I had originally been pregnant with twins and lost one.

My nuchal result was 1:189 which I know is not as bad as yours but still high risk. Some research seemed to show that twin pregnancies can result in high levels of free beta HcG. which is usually the one which also suggests Down Syndrome.

I opted not to have any further tests.

My dd was born at 28 weeks ( this was due to placenta Accreta, so nothing to do with earlier bleeding or blood results) and although she is very prem and is still in hospital, she doesn't have Down Syndrome or any other trisomy and looks to be healthy. smile

Really hope it all works out for you. My feeling is that because the nuchal fold iteself is good, as it was in my case, the baby is more likely to be OK. All sorts of things can throw the bloods off.

DontTellAnyonebut Mon 19-Sep-11 17:14:08

chipmonkey i don't think your can weight the nuchal fold like that as my measurements were both awful but the babies were fine. The importance of the nuchal fold measurement is already calculated.

I hope your baby is thriving.

plumblusher Tue 20-Sep-11 20:15:21

Feeling very nervous now. I'm wondering just how painful this is going to be? And also should I expect to bleed much if at all afterwards? Also do I need to have a full bladder like you do for a dating scan? Can't believe how happy and excited and full of life I felt last week and how one phonecall can send your life in a spin of uncertainty.

OP’s posts: |
HardCheese Tue 20-Sep-11 20:48:28

Sending every possible good wish your way, plumblusher.

FannyLogan Tue 20-Sep-11 21:03:10

I have been there and it is a horrible time. I expected to be ringing people to tell them I was pregnant, posting on facebook, but instead I was reeling from a 1 in 3 risk of DS.

I had an amnio instead of the CVS. It was no more painful than a blood test, just a bit uncomfortable - I imagine CVS is similar.

I had it on the Wed, fast results were back 8pm on Friday night - DS is fine, were were lucky - wishing the same for you.

All the best for Thursday. xx

ghislaine Tue 20-Sep-11 22:00:25

It doesn't hurt much plumblusher - a prick when the local anaesthetic is given, and then a sort of pulling sensation as they remove the cells. It's not completely painfree, but is more about weird sensations than anything else. Afterwards you might feel crampy for a couple of days.

I think you need to have an empty bladder. I know I was asked to empty mine for the second one. I didn't bleed at all, either time. I know some people have but haven't miscarried. This is a pretty comprehensive guide to cvs (there are pictures on p 6 (not photos) of the procedure if you want to skip over them):

fetalanomaly.screening.nhs.uk/getdata.php?id=11111 (this should work if you cut and paste into your browser.)

All the best. I think the waiting and wondering is worse than the actual cvs, which will be over in minutes.

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