"Very abnormal" nuchal biochemistry results, CVS result currently unclear.

[Mallory1980]

Hi all, this is my first post on Mumsnet and I wondered if someone might have some advice.

Basically I had my nuchal screening done at 11+5. The sonographer had no concerns at all - she described the baby as "perfectly shaped" with a nuchal fold within the normal range and a strong heartbeat.

However my biochemistry results came back all up the creek. While I am considered low risk for Down's Syndrome my results were described by the screening midwife and everyone else involved as "very abnormal, very unusual biomarkers". My hCG was at 0.19, and my PAPP-A was at 0.19. Not only is this very low, but apparently it's also unusual that BOTH values are low. So another, more severe chromosomal abnormality was suspected, namely either Trisomy 18 (Edwards Syndrome) or Trisomy 13 (Patau's Syndrome). Both are "incompatible with life" (there's a phrase I don't ever want to hear again).

So at 13+4 I had a CVS done. Not much fun, but bearable. The consultant did a scan beforehand and again I was told that thus far the baby looks normal. I was also told to expect the test results within 3 days. However, after three working days (and a weekend - agony) had gone by I was told that my results are "not clear-cut" and that I have to wait another 2-3 weeks for a full karyotype. Ahahahahasob. I was told that Trisomy 18 (Edwards) is definitely present in my placenta, but they have reason to believe that there might be a very small chance that the baby is unaffected. The lab report mentioned Confined Placental Mosaicism (no, me neither) as a possibility, but there's no way of telling for sure yet. The screening midwife told me she isn't optimistic.

So I am basically spending the 2-3 weeks I have to wait by googling (I know I shouldn't) and going deranged. Google isn't yielding much - it would seem that my particular situation is indeed quite unusual. So I wanted to find out if anyone on here have been in a similar situation? If so, what was the outcome? If the baby did turn out to be normal was the placental function affected? I basically just want to find out as much as I can, if someone been through something similar?

So very grateful for any advice.

No advice but so sorry you're going through this. What a complete nightmare.

I work in antenatal screening and have heard of similar cases, some turning out very positive, others not so. The thing that strike me here is the good nuchal and scan results - with the more severe abnormalities (ie, Edwards) it would be very unusual (though not impossible) not to see some structural abnormalities, even at this stage.
I'm not sure if something like the harmony test would be useful here or not (ie. not sure if it would be able to distinguish between placental/foetal dna) but if I was in your situation I might consider visiting the FMC at Harley Street and get Prof Nicolaides to take a look. Certainly the continuing good health of your baby is incredibly positive. While rare, you DO hear of positive outcomes in these situations, and there's good reason at this stage to think you might be one of the lucky ones xxx

Really sorry to hear you are dealing with this. I'm guessing you will end up with an amnio at 15-16 weeks to test the fetal karyotype perhaps, in case the T18 is only present in the placenta?

This is an interesting thread if you haven't found it already: community.babycentre.co.uk/post/a24814379/confined_placental_mosaicism......anyone_our_there_had_this It's T13 but I'm sure there's not a lot of difference.

It's promising if baby does turn out to have Confined Placental Mosaicism - I guess at this point it is the best you can hope for but it does mean baby may have a normal life. This thread is an example of that: community.babycenter.com/post/a48161419/false_positive_placental_mosaicism_trisomy_18

I've not experienced it myself, but I've spent a lot of time on prenatal testing boards after screening very highly with two pregnancies (and waiting it out with one of them so spent four months obsessing!) so I've seen a lot of stories in that time. Even though it is rare, Confined Placental Mosaicism does indeed crop up from time to time and there are good outcomes.

Normally I'd never advocate anywhere other than MN for posts, and this forum is brilliant for most things especially moral support in particular. However given what you have is so rare and you're looking for people with similar situations, you might get more luck somewhere with more traffic. Babycenter has a lot of high traffic prenatal testing boards where you might get a lot more responses. There's "antenatal scans and tests" and "MaterniT21, Harmony, Verifi Discussion" boards for starters - even if you didn't have those particular tests, people on them may have similar diagnoses. It's mostly US-based but not much differs really in terms of how these particular situations are handled and the outcomes.

It is promising that baby looks otherwise good. Most babies with T13/T18 show something on ultrasound, whether that's soft markers and/or increased nuchal fold and/or measuring wrong. It's very unusual to have a baby with T13/T18 that looks fine especially with a detailed scan. I'm guessing due to the fact your baby does look perfect is why they're considering it as a possibility rather than just assuming it's a full-blown case of T18.

Good luck with future testing (and the loooong horrible waits..) and if you are able, it would be good to hear how it goes.

x-posted with diege

I second the Fetal Medicine Centre (as always!!) - the professor is the gold standard on this sort of thing, there is nobody in the world better qualified.

Ignominious, thank you so much for your kind words. I appreciate it more than I can say.

Diege, thank you for taking the time to reply. I know I shouldn't even dare to hope for a positive outcome when it's so desperately rare, but I can't help it. Your words, especially considering your experience with antenatal screening, help a lot.

And trust me, had I the money I would be banging on Professor Nicolaides door as we speak :)

CrispyFB, thank you for your long note. I don't think an amnio is on the cards, I got the impression that they will consider the results of the CVS karyotype as the definite diagnosis. Not sure if they would give me an amnio if I requested it, especially if they consider it cased closed.

Thank you so much for the links to other threads and the suggestion to post on other boards. I will do just that. America is a big old country and hopefully I'll find someone that might have been in a similar situation.

I have decided that even if they come back with a definite diagnosis of Edwards I will wait until I've had the 20 week scan before making a decision about how to proceed. Not because I'm hoping for a miracle/that the syndrome to magically disappear. I'm not deluded. But considering that thus far the scans have been normal I think it would make my decision so much easier to make once a detailed anomaly scan has been performed. If they baby does turn out to have severe abnormalities, well, that would make the decision to have a medical termination a tiny little bit easier. And if not, well, then I guess I will have to think long and hard what to do. I suspect the midwifes won't be too impressed with that decision - they are already pushing quite hard for a termination if it's confirmed to be Edwards (the one that called me about the initial CVS results even said "I understand you're keen to terminate should it be Edwards" which, lady, 1) I don't think the word "keen" should ever be used about a wanted pregnancy having to be terminated for medical reasons and 2) I've never said that. Her saying that upset me a bit).

I just feel horrifically guilty. This would be my third child with the pregnancy an accident and not at all planned. I spent the first few weeks after finding out about it furious with the situation and being very vocal about my displeasure at being pregnant again (of course, a few weeks after that I'd come around to the situation and was really looking forward to a third child). Now I just feel that because I was such a cow about it initially I basically MADE THIS HAPPEN WITH MY MIND. And yes, I know that's really irrational and stupid.

Once again ladies, thank you so much for your replies. I will definitely keep you updated.

Hi Mallory - I'm very sorry you are going through such worry. It's excellent news that all looks normal with your baby, so please hold on to that. I hope all the other tests are just a false alarm. Do get in contact with ARC if you haven't heard of them before. They specialise in supporting parents to be in situations like this. They aren't there to tell you what decisions to make, so you won't get the attitude you've had at your hospital so far by the sounds of it. I rally hope you get good news with your baby. Take care

Arc are fantastic Mallory I found out my baby has downs syndrome two weeks ago I'm still waiting for the rest of my results back please pm if you want xxxx

Mallory, thinking of you. Just remember if you are NHS it is your right to have a second opinion

Hi Mallory

I have nothing to add except that I bet they would do an amnio if you pushed. (If they won't, tell me and I'll ring up and argue for you!)

Whilst it would be unusual to have a CVS and an amnio, you have a a rare and exceptionally good reason to do both - because an amnio would not come up positive if the Edwards is confined to the placenta. Amnios can be done from 15/16 weeks so that would give you an answer earlier than waiting for the 20 week scan (and a more definite answer too). Of course there is an additional risk of miscarriage however.

Huge sympathies, what a difficult situation. And you did not make this happen - please don't think that.

All my best wishes.

10 years ago I held my best friend' s go hand physically and metaphorically through the same situation.
In two weeks time her daughter will be 10 and is tiny, but otherwise developmentally normal.
My friend was cared for by Silver Star at the John Radcliffe her daughter was delivered by section at 35 weeks and was discharged 2 weeks later the day she weighed 4lbs.

Thank you ladies ever so much for your kind and encouraging words. I've been told to expect my results at the earliest this Thursday or Friday, so fingers crossed they come through then, or the wait through the weekend will be agony. I just need to know.

Lonecatwithkitten, I am so glad to hear that your friend had such a good outcome. I can only hope for something similar for myself, but with the professionals telling me they're not optimistic and bringing up termination at every opportunity...well, it ain't easy. But I'll take it one step at a time. Results first, then work out what I will do.

Again, thanks to all of you.

Fingers tightly crossed for you to get quick results (and of course, hopefully good results).

What I'm a bit confused by is that - as I understand it - the full karyotype won't make it any clearer whether it's a confined placental issue or whether it also affects the baby. The full karyotype, just like the initial results, is done from placental cells only, so I can't see how they would be able to tell you from that whether it's just placental or not. Maybe something to ask them?

That's the "benefit" of an amnio - it takes its results from foetal skin cells floating in the amniotic fluid, so it really is giving you a result from the baby not the placenta.

I'm sorry the medical staff are being so leading - they really should leave the decision entirely to you (having given you the best info they can).

Best wishes for your very difficult situation.

That's what confused me too, and I'm still confused. I made my partner call them as well and he came away with the same as me: the results are not clear-cut, they require further analysis but T18 is definitely present in my placenta.

I never got a clear idea what it is in the initial results that make them believe there's a small chance that the baby is unaffected. I mean, then what's the point of doing a CVS test at all? It didn't help that it was the assistant screening midwife calling me (the other lady is on holiday) and she'd never seen anything like this before (she said she'd read the lab report five times, then called the lab to clarify, then spoke to a consultant for further clarification before calling me) and it seemed like she struggled to explain it because she herself wasn't quite sure what's going on. Not reassuring.

Only thing I can do is wait for the full karyotype and see what they say. I really hope they agree to an amnio because at the moment there's just too many maybes and we don't knows for me.

As I say I can't believe they wouldn't agree to an amnio, having told you there is an indication of confined placental mosaicism.

As to why they think this: I presume that what's happened is that some placental cells have come up showing T18 and some have come up normal. So, mosaicism. From what I have read about mosaicism (which is not a lot) it seems that it is quite possible to have placental mosaicism but an unaffected baby. In fact I've come across quite a few stories from people who had a "false positive" from a CVS, because of the mosaicism - like the babycenter link above. So I guess that may be why they think there is a chance it's confined to the placenta. But, no way to know for sure unless you test the baby in some way - which means an amnio.

It sounds like you'd do best speaking to the consultant directly - guess it would be best to do this once the full results are in. Can you ask to have an appointment scheduled with the consultant for once the full results are in?

If the consultant is still not very clear, the only other thing I can think of is to ask if you can be referred to (ie have your CVS results sent to) Prof Nicolaides or a similar expert in the field of antenatal testing. Nicolaides does NHS work at Kings as well private work as his FMC clinic. As you are clearly in a relatively rare situation, I would think that justifies referral to an expert in the field. (Though I may be being optimistic...) If you can get this referral, the Prof/other expert may be able to tell you more about what your results show (or at the very least they may be better at explaining it).

But yes, I guess there's not much more you can do right now till the full results come in.

Just posting to second everything minipie said. It sounds like you need to be talking directly to people who know this stuff, not through third parties with something this complicated and rare. Whether that's your consultant - who may well not be an expert - or a referral elsewhere (totally second the prof at Kings of course!) - just anyone other than the poor confused midwife who likes things textbook!

Lots of luck!!

Urgh, no news this week. My cells haven't grown enough. They want to give it another week. I'm going slowly insane. At this stage are there any other tests, private or NHS, that I could do that would yield quicker results? I don't think there is but hope springs eternal....

Ah sweetheart, sorry to hear you have yet more waiting to do. I really feel for you

The only quicker "test" I can think of is to have another scan - as Edwards/Patau would usually show physical markers even at this early stage (and you're a couple of weeks on from your 11+5 scan so could see more) - but of course scans are by no means definitive. Also most of the private scan providers aren't that great at looking for markers afaik, they're more about reassurance and photos, so you'd need to go somewhere which is properly medical like the FMC... Any other test I can think of (amnio, harmony etc) also involves growing cells and takes c 2 weeks.

Mallory just to share my story I unfortunately lost a baby due to trisomy 18 . My baby had very distinctive markers at my 20 week scan (although nothing was picked up before this) and an amino confirmed this. But in my case the amnio was only confirming the scan which is not the case for you so I would Definately take hope from this. My next pregnancy I had a cvs at 12 weeks this came back with turners syndrome in the placenta but like you couldn't confirm wether it was confined to the placenta or also the baby . Only way to confirm was to have an amino which I declined as either way having read up on Turners which is not life threatening we had decided to keep the baby. Like you there were no other markers or indicators that the baby was anything but normal (and I had a lot of scans!) before she was born. After she was born perfect a blood test confirmed she was fine and the turners syndrome had just been confined to the placenta only so I hope this gives you some hope for a happy ending Good luck and I will be thinking of you

Would amnio not give preliminary results within about 3 days?

Thanks Minipie, that's what I thought. I'm sixteen weeks today so would've thought some soft markers would show on a scan. Will investigate options.

My OH just came home from work. It was he that spoke to the midwife today, and when he recounted the conversation he said that the midwife told him my cells "haven't grown". Sounds a bit like they're just laying there doing nothing at all, I would've thought that since they've had my sample for 14 days now SOMETHING should have happened. Maybe there'll be an amazing cell growth-spurt over the weekend :/

Thanks for sharing your story, Jumpingjuly. I am so sorry you lost your first baby, but so happy for you that your second pregnancy had such a happy ending. I'm approaching my anamoly scan (in three weeks - booked at the time of my nuchal scan) so I guess if nothing else happens before then at least that might give some answers.

Concernedabouttheboy, yeah, think amnio would give quick prelim answer, though doubt they will agree to do that on me while we're still hoping for a CVS result so will investigate private options.

In fact, had I known then what I know now about CVS results sometimes coming up inconclusive I would have opted to wait for an amnio.

It just seems daft to insist you wait on the results of what in your case is going to be a screening rather than a diagnostic test, IYSWIM.

I would imagine that if the cells do grow the results will mean revised odds (up or down) of a chromosomal abnormality but surely until they have cultured cells from your actual baby there will be no definitive karyotype??

I am so sorry you are going through all this worry and hope you get some answers.

Personally I dob't see why you shoukd have to pay for an amnio. You should get it on the NHS...

What I mean is, CVS results are only going to tell you about placental cell lines aren't they? You need fetal cells -from an amnio - for diagnosis don't you? Or am I minsunderstanding the whys and wherefores of the tests here?

I don't know, Concernedaboutheboy :( It's my understanding that in the vast majority of cases CVS is a very accurate diagnostic tool. It's just that, as you say, it increasingly looks like my case is not grouped in with the vast majority. Initial result inconclusive and nothing like the screening midwife ever seen before, then the bastarding cells won't grow (or haven't grown enough). If they do manage to tease a final karyotype result out of this can I trust it?

It's all just so frustrating and upsetting. If they want to wait another week before either getting a result or giving up on the CVS avenue I'll be 17 weeks. Things feel not so awesome.

(Sorry to whinge)

Hang on in there Mallory. Culture failure (ie, the cells not growing) is more common than you might think and doesn't relate at all to whether the cells are 'normal' or 'abnormal'. Just one of those things. I had a culture failure myself with dd1 though so do know how frustrating it can be , alongside everything else that you're going through too and sneaky