1: 189 for Down syndrome. Is this considered to be high risk?

[chipmonkey]

Just got this in the post today. I had the nuchal scan and bloods done weeks ago but my bloods went missing. Nuchal measurement was 2.0 and the obs was very happy that the baby looked normal. The free beta HcG seems to be very high. Is it significant that this started off as a twin pregnancy? At 9 weeks there were two sacs, one empty, one with the baby in it. The bloods would have been taken at 12 weeks. I know the odds still look good but my result with ds4 was 1: 2000 at age 38. so this seems a lot worse.I am now 42.

[Isthreetoomany]

I'm certainly no expert on downes testing (posted my own first post in this section of MN shortly before you!), but have been online doing some googling relating to my own query. But I happen to have just been reading that 'vanishing twin syndrome' (which sounds like what you have had?) can throw the results off.
I will see if I find the link to post. Hopefully someone more knowledgable will be along soon.

[Latteaddict]

Another one who is no expert, but I was told that I had a very high DS risk with my second pg. I have no idea/knowledge about "vanishing twin syndrome", sorry. However, what I can remember is being told that they called anything with odds of 1:250 down "high risk". Which in many way really isn't that high odds - I know it feels scary, though, looking at the numbers and hearing the words "high risk". (my odds were in double, rather than triple figures, and no, an amnio showed all ok).

Were they able to see a nasal bone? If so, that's a really good sign.

The only other thing I can think of to give you some comfort is that of everyone I know who has had "high risk" results (think 1:3, 1:19, and several like me in double figures), all turned out not to have DS. I know that isn't the factual info that you need right now, but hope the general positives help a little until someone who knows their stuff spots this!

[chipmonkey]

She didn't mention a nasal bone but tbh, even the nuchal result was hard to get due to the baby's position. I am not sure if I want to risk an amnio/CVS due to the risk of miscarriage when the risk of Downs is actually lower than the risk of MC after an amnio.

[Katiebeau]

Waves to Chip. Re amnio risk many women have quoted much lower odds for specific specialists. Not sure about your neck of the woods Chip but perhaps someone can advise if you post for comments on this specifically from people nearer to you. I wish you were having a less stressful time. Hugs xxxxx

[Katiebeau]

Oh and you can have another Ultrasound now to look for other markers than nuchal fold.

[lktoday5]

also waves to chip. As you know I posted some of my story on our board. If you can find the cash I thoroughly reccommend Dr Maxwell at the London Ultrasound Centre (others also speak highly of Professor Nicolaides, also on Harley / Wimpole St). I cant tell you how reassuring it was seeing the person who actually invented CVS (I understand Nicolaides did the same for amnio).

Also they can re-do your nuchal tests to see if they would class the results as high risk and I have no doubt that both of them will know the answer re 'vanishing twin syndrome'. So even if you dont do the amnio with them, a consultation maybe worth its weight in gold. Sandra the clinic coordinator at LUC is also well versed in stressed out hormonal women and can also help you decide a plan of action .....(and no, Im not on comission!)

[Riveninside]

Thats pretty low really, and lower than the chances of something else happening.
Good lucj

[chipmonkey]

lk, I'm in Ireland so don't think I'll be going to London for testing although I am tempted!
Riven, you are right but I think for me, the shock is more that the result is so much less reassuring than the one I got for ds4. If I didn't know that people got odds of 1: 15,000, I would be much happier. Tbh, although Downs is not the end of the world, it doesn't help that my cousin with Downs died aged five and my cousin's little guy (6) has been hospitalised most of his life and still needs 24/7 care.
I really should just phone the doctor and talk to her, I suppose!

[drivingmisscrazy]

I think the fact that you had a twin pregnancy to start off with, combined with your age which will send the results up means that it's actually a pretty good result. If you are in Dublin, Fergal Malone at the Rotunda has a very good personal record on cvs (1:300 mc rate) - he did ours, baby is fine (after 1:11 risk mostly due to high hcg), DP had some cramping, but no problems. Mostly 1:200 is considered the cut-off.

[chipmonkey]

driving, that's good to know. I may give him a call although do I dare to defect from Holles St? Does the risk of MC decrease the longer you are pregnant, I wonder?

[drivingmisscrazy]

well I'm amazed that Holles Street didn't talk you through the results - the cvs has to be done before 14 weeks iirc, and then after that it would be amnio. I don't know what his stats are for that; his clinics are Tues and Thurs, but he also does consultancy at Charter Medical (don't know what your circumstances are). We paid for the nuchal test, but when the odds were bad went straight for cvs which as it was clinically indicated will be covered by VHI [this post will make no sense if you are not in Ireland!]. It takes 3 working days for results for the 3 main trisomies (but you pay for this express service) and then about 2-3 weeks for the full karyotype. Feel free to pm me if I can help with anything.

[chipmonkey]

The trouble is, the bloods actually went missing. I had been given the impression that if I didn't get a call, then I could assume all was OK. It was only when I went back to my own obs that I realised that the blood results had not been sent to him, he was to chase it up with the nuchal fold person, heard nothing since and then I get this in the post at 19 weeks! I am wondering why I bothered to have it done at all now.

[chipmonkey]

Charter Medical are in Smithfield, are they? Going privately wouldn't be a problem. I would leave on baked beans rather than do without VHI!

[drivingmisscrazy]

yes, Smithfield - or you can go to the Fetal medicine unit at the Rotunda (RCSI); you can self-refer if you pay! at 19 weeks I think amnio is your only option. It sounds like Holles St made a bit of a mess of it.

[applechutney]

I had an amnio done with fergal malone in the Rotunda last August. He is highly regarded, and quotes a miscarriage rate of 1 in 1000.

There is also someone highly rated in Holles st, whose name i cannot recall . So even if you stick with Holles St, the one in 1000 miscarriage rate should still apply.

You really need to think through what you would do if you got a less than favourable result. I found the irish family planning association incredibly helpful when I got the result of my amnio, which sadly was positive for trisomy 21.

[drivingmisscrazy]

I would second applechutney's point (hello again!) about thinking through what you would do if you get a positive result; it's not easy and I wish you well whatever you decide to do next

[chipmonkey]

Had a chat with dh and we have decided not to opt for any more testing. We probably wouldn't terminate for Downs, although I have to say, I would for trisomies 13 and 18, which I'm still low risk for. And I am fairly certain the bloods are off because of the lost twin so probably the risk should be lower in reality. Thank you all so much for your help. Holles St did mess up for sure. Annoying thing is that I don't know my my obs didn't send me to Merrion Fetal Health as they charge less and SIL got a much better service when she went there.

[drivingmisscrazy]

chipmonkey I'm glad you have reached a conclusion; good luck with the rest of the pregnancy!