Some questions around high risk test results: age 40, risk is 1:112

[eagleray]

Hi

I'm 40 and had my 12 week scan with screening on Saturday. Was devastated to get a call today to say I am 'high risk'. Right now, I am trying to make sense of the results and work out what further information I need.

The nuchal fold was 1.6mm, which clearly is nothing to be concerned about. As far as I know, background risk based on age alone is 1:85, and the combination of the 3 tests has taken my risk to 1:112. I know that this is high as per the 1:150 threshold, but lots of people have much worse results to deal with.

I have to ring the hospital again tomorrow, to potentially make an appt for the cvs if I choose to do go ahead with that. I know I have a bit of time yet, but I also found out today that my dad is possibly terminally ill will cancer and so it looks like in the next few days/couple of weeks I will be having to make a long journey to see him (and I would rather get any testing first so that I am not having to cope with these two things at the same time, if that makes sense)

So here are the things I think I need help with:

I have a prolactinoma (pituitary tumour) which causes hormonal problems, plus it has also been noted recently I am possibly a thalassaemia carrier. Could anything in these conditions skew the blood test results?

Are there any specific questions I can ask about the results when I phone tomorrow? At present, I don't know anything other than the overall risk, but I guess there are a few results within the overall blood test?

If I did opt for the cvs, what practical steps would I have to take afterwards regarding recovery? DP is abroad til thurs, but currently lives 100 miles away during the week as well, so trying to work out if I need him to be around at hospital to help out.

I read something on a private clinic website about potential bleeding afterwards? Anyone know how likely this is?

Finally, should I be at all concerned about the risk rate of the practitioner/hospital where I would have the test done? I did try to ask the MW today but all she said was that they were regularly audited re mc rates.

Sorry for long post - I know the results aren't dire, but they way they were presented to me was a bit worrying, and am feeling pressure to make the right decision, based on risk associated with further tests, plus the effect not knowing will have on my already slightly dicky health.

Oh, and was already aware of ARC and know they have a helpline, but it's very, very hard to make calls during the day because of where I work. I will see what I can do tomorrow though.

[MsBump]

Hi Eagleray. Sorry to hear you are going through so much. I am having an Amnio today as was 1/70 risk and then opted for the integrated test and came back 1/6. Although this is obviously not great I am glad I waited for the integrated test as was worried about rushing into the CVS for something that might actually be ok. (I also have a subchorionic hematoma so am more at risk) So I can't answer about your questions re cvs. However regarding MC risk rate its very important to grill your hospital on this and they have to be honest. I spoke to ARC who were really helpful in explaining my blood results and they advised that the consultant that performs the CVS or Amnio should do at least 50 a year so average about 2 a week. Make sure they explain to you their MC rate and hopefully it will reassure you. If you can't ring ARC its worth emailing them [email protected] or a nice coordinator emailed me so could try her [email protected]. I think the best advise I have had so far is to take every step at a time and don't google too much!! Good luck and hope you get some good results.

[eagleray]

Thanks very much for replying MsBump - I haven't gone into work today so at least have some time to make phone calls and to think about things properly.

I will also ring ARC today for advice.

Good luck with your amnio today - I will be thinking of you, and keeping my fingers crossed that everything turns out ok.

[mummytoh1]

If you are struggling to contact ARC by phone, could you email them? That's what I did, as I also found it hard to make a phone call during the working day. They got back to me with a very reassuring reply within a few hours.

In terms of the aftermath of the CVS, you may experience some spotting (not sure how common this is though). Some hospitals tell you to rest, others say it makes no difference. In terms of doing all I could, I opted to rest regardless. However, the m/c risk is allegedly much lower than the published average as these were produced a long time ago. Each consultant has their own mc % - my consultant had never knwon of a mc after a CVS he performed. Do you have other children? As I did feel a bit bruised afterwards, and struggled to lift my DS1 (then age 2) for a few days.

In terms of your results, I think your age is hugely skewing it. Your result is better than that of an average lady your age, which means that your other results (NT and bloods) aren't too bad. Do you know the blood results in MoM? You're right, 1.6mm is great. As a comparison, at age 35 I had a 1:15 for down syndrome, with poor bloods and a NT of 2.6mm. My little boy is chromosomally normal.

As for the other conditions, I don't know. There is a link between the bloods and 1) experiencing bleeding during pregnancy, 2) smoking, 3) having IVF, and probably some other things too. Is there a fetal medicine MW you could talk to? Alternatively, I'm sure ARC will throw some light on to your specific questions.

I hope that helps a little bit...

[Daphne78]

Dear Eagleray

I am sorry you are going through this. I hope it will turn out all fine.

I had CVS about 5 weeks ago due to high NT results (3.8mm). The procedure itself was not painful but uncomfortable. Actually it didn't take more than 10 minutes in total.

My consultant told me to take it easy for a few days although he said a bed rest was not necessary. To be on the cautious side, I remained lying on the couch the day of CVS and the next day. I was glad my husband was around for the CVS but also for afterwards. If your husband cannot be around, can you ask a family member or a close friend to spend a few days with you?

I had no pain or bleeding between Friday (CVS) and Tuesday, when I went back to work. I then started bleeding heavily so went directly to A&E. The scan showed that the pregnancy was continuing despite the heavy bleeding. We don't know if the bleeding was caused by CVS or the fetal abnormality (DS confirmed) but the reason I am mentioning this is don't be afraid if you have bleeding after the CVS as in our case it didn't cause a mc. But of course go to A&E immediately if you experience this (very unlikely!)

The consultant that did my CVS is a very well known consultant (I had him on NHS) so I trusted him fully. I think if you get a chance, try to learn about the consultant who will perform the CVS

Don't feel pressured to make a decision without being ready. But also think about what you would do if you received a positive result. If you would terminate the pregnancy, then you should think about the cut-off dates for surgical termination. If you would continue with the pregnancy no matter what, then you can decide to have CVS (or amnio) when you are ready.

I really hope everything turns out alright. Feel free to ask more questions if you have any

[eagleray]

Hi and thank you so much to both of you for bravely and selflessly sharing your experiences.

I rang the MW earlier - she couldn't give me any more information about the blood test results but said that they wouldn't have been affected by any pre-existing conditions.

It's too late to book a cvs for this week but she referred me to the hospital which will do the test, on the basis that I will go ahead for now with the appt but see how I feel closer to the time. The hospital have since rang back to offer me an appt first thing next monday. I also have the name of the specialist who will be doing it. Also, the hospital seem very experienced in these sorts of things so have been reassured on that front.

I was told that I could go along on Monday, see the consultant, have a scan, look at the blood test results and still decide not to have the cvs at that point if I didn't want to go ahead, which was very reassuring. Am hoping DP can get the day off work and spend it with me so that I have someone with me afterwards for the day.

I didn't get round to ringing ARC today as felt a bit exhausted from speaking to the MW and hospital and think I benefited more from sitting in the sun and reading my book instead, and just thinking about nice things for a while. I will probably ring them later in the week though, now that I know I have a few more days before the hosp appt.

Thanks again for taking the trouble to post - glad you had a good outcome mummytoh1 and am very very sorry for what you have been through Daphne78

[minipie]

Hi Eagleray

What a difficult position. Your results are technically "high risk" but better than the average for your age so really your NT and bloods must have been pretty good. 1:112 = 0.9% chance of having downs. The risk of miscarriage caused by CVS is about 1% (though this varies from doctor to doctor). So the risks on paper are about equal.

Are you anywhere near London, and could you afford to pay £180... If so, you could have a look at the Fetal Medicine Centre on Harley Street. They do private NT scans and blood tests and their scan is more detailed than the NHS one (the doctor there pretty much invented nuchal screening) so they will probably give you a different result. I did this as I also had a "borderline" result from my NHS screening (1:104 for Downs). Unfortunately my result at the Clinic was worse than the NHS result (lower risk for Downs but 1:42 for Edwards/Patau). However it made my decision to have the CVS easier.

Just one thing if you do have a CVS - you mention possibly going to see your father in the next few days (very sorry to hear of his illness) - it would be better not to do a long journey within a few days of the CVS, just in case you were thinking of doing this. You would need to take it easy for a couple of days after a CVS though complete bed rest not necessary.

If it is a busy hospital with a large antenatal unit then that does generally mean they are more experienced so that brings down the miscarriage rate. I was also told that if you are not overweight and your placenta is high that also helps reduce the risk of mc.

[brettgirl2]

As minipie says the result for your age is better than average. If you were 2-3 years younger you would have been given low risk. The odds here really are in your favour.

[eagleray]

Thanks for your help Minipie and brettgirl

I went to the unit on Monday with the plan of talking through the results with the consultant and probably would have gone ahead with the test; however, the placenta is posterior/low and she said an amnio would be less risky, and so I am provisionally booked in for that in 2 weeks' time.

It's a little bit of a pain not being able to draw a line under things, but I am not worrying too much about things and feel happy that the amnio is booked but can see how I feel closer to the time.

I did take a look at the clinic in London on the web and did consider it although don't live near London, but it still wouldn't have been 100% conclusive and I am fairly limited regarding the amount of time I can get away from work (am self employed and already have quite a few other hosp appts due to another medical condition!)

Thanks again everyone and hopefully I'll have some good, conclusive news in the next few weeks.

[minipie]

Best of luck eagleray - yes, the clinic scan still wouldn't be conclusive, so not really worth it unless it's close & easy (which it was for me)

[hellymelly]

I had odds of 1-50,000 with dd1 at 40, and then odds of 1-160 with dd2 at 42. The huge jump did worry me, but as I wouldn't have terminated I didn't have amnio or cvs. I have no idea why there was such a difference between my two sets of results. Neither baby had Down's, and your results are not all that bad at all given that they also factor in your age. Are you clear you would terminate for an abnormality? Because if not, personally I think an amnio is too big a risk to take (and that was also the advice of my consultant). If you would, the amnio might make sense, but maybe having another more detailed scan would be sensible first, as the odds are still massively on the side of your baby having no problems at all.