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Miscarriage at 11 weeks with trisomy 21 in February, pregnant again but think it's chromosomal defective again.

(16 Posts)
sebsmummy1 Wed 24-Jun-15 08:53:20

I know you can't take one set of results as proof, however I had my HCG levels tested at 4 weeks 4 days and again at 5 weeks (from LMP). At 4 weeks 4 days they were 3000 and something. At 5 weeks they were 12000 and something. They pulled me in for a scan thinking my dates were off and the scan dated the pregnancy as correct, but HCG is around twice as high as is normal.

No mention of multiples although I know it's still a slight possibility. My gut instinct is I have another trisomy issue, perhaps Downs again as high HCG seems to be one of the early markers. I am upset but due to AMA it's not that surprising.

I am having another scan on Friday and seeing the consultant straight after. Assuming the pregnancy is still showing as progressing should I ask about PAPP-A testing, does anyone know when that usually happens? I am looking at the Harmony and Nifty testing which I know you can get from 10 weeks. Does anyone know when the cut off point is or could I wait for bad nuchal fold measurements and then elect to do the Harmony test after that?

Sorry for all the questions, I just want to figure out what I could be dealing with before I'm in a situation where my head goes blank.

Thank you.

KittyandTeal Wed 24-Jun-15 16:51:33

Oh lovely I'm so sorry you're going through this.

We lost dd2 at 22 weeks to T18 so I can imagine how stressful this must be.

It's worth asking about Papp a. I do know T13 and T18 both have low hcg markers so I'd doubt it's one of those if any (not that that's any comfort really)

We've been told the best time for harmony is 10 weeks. The fmc do a package with a viability scan which I've heard is very detailed and picks up some issues.

The doc from the fmc (who we were under at Kings) said they'd want to see me around 11+6 for nuctal.

It's worth giving them a call.

Have you been in touch with arc?

sebsmummy1 Wed 24-Jun-15 17:38:37

Thanks Kitty. I have heard arc mentioned elsewhere, I tried to log onto their forums but you have to pay a joining fee so I didn't take it any further.

I know it sounds awful but because the last pregnancy ended at 11 weeks I am slightly loathe to spend £400 on a Harmony test and then have the baby die before the results come back. Hence wondering if I could wait till later although I've heard it's then more expensive.

I'm thinking (again assuming we get this far) that I might just get the amnio done if it comes to it as the risk of miscarriage is pretty minimal.

KittyandTeal Wed 24-Jun-15 18:13:13

There's no charge for arc, they ask for a donation but I've not paid. You do have to fill in a fair few forms to stop people trolling I guess.

I understand what you're saying about spending £400 if the baby is not likely to make it much further that 11 weeks.

I think the fmc do a harmony on its own at any time for £500.

I'm not sure how early you can have a cvs or amnio. I guess the cvs is the better option as you have it earlier.

Tbh it could all be nothing, or a multiple pregnancy. I understand it must be really hard not to assume it's all going to go wrong (I think I've already started doing that and were only at the ttc stage)

SaggyAndLucy Wed 24-Jun-15 23:55:07

If you would consider amnio at any point I'd not bother with Harmony.

sebsmummy1 Thu 25-Jun-15 07:59:44

Saggy I think it's easy for me to say at this stage that I would opt for CVS or amnio but I suspect when it comes to it I might opt for the non invasive option. I'm just really REALLY pissed off this is (potentially) happening again. I need to talk to the consultant about these high HCG results and see if she offers any other explanation bar this very depressing one.

Metalhead Thu 25-Jun-15 19:41:44

sebs my old friend - first off huge congratulations on your new pregnancy!

I know you must be terrified after your previous losses, but high hcg levels don't necessarily mean the worst. At our 12 week screening I was given a 1:85 risk of Down's because my hcg was 9 times the normal level! We were absolutely shell shocked as the scan had looked really good. I had the Harmony test at the Portland Hospital in London when I was 14 weeks, and I'm pleased to say it came back low risk for all triosmies. So, that's definitely an option worth considering (if you can afford the £450).

As for the abnormal hcg, no one could give me an explanation for it, the consultant I saw said it just happens sometimes, although she has booked me in for two extra growth scan later on in the pregnancy, just to keep an eye on baby's development.

I've got my fx firmly for you that it's a similar case for you, you deserve a happy ending! x

sebsmummy1 Thu 25-Jun-15 21:53:32

Thanks *Metal flowers. I have already written this one off I think so your words really do help.

I know it's a combination of results that give the risk of Downs but when she first have me my quantitive results I didn't think anything of it. I was just pleased she said they had doubled. It was only when she was very odd at the scan (I think they thought I was further along) and it seemed as though they were quite pessimistic, I researched the results more thoroughly and was really shocked at just how high they were.

I'm just going to take it a scan at a time I think and see if the heartbeat remains. If we get to the 10 week mark I am thinking of getting the Nifty done at Harley Street for around £370.

So pleased your pregnancy is progressing without any problems xxxx

Metalhead Fri 26-Jun-15 07:43:50

Thanks sebs, I'm still worrying and don't think I'll ever fully relax until she's here, but for now everything is looking good. I really hope it will be the same for you.

I think that's a good plan to get the Harmony at 10 weeks, at least then you should be able to get some more or less definitive answers. (I know it's not 100%, but almost as good as).

Just try and hold on to the thought that, even though I'd read lots of horror stories about what high hcg could mean for a pregnancy, all the professionals I've spoken to (including my SIL who's an obstetrician in Germany and all the consultants at her hospital) have said it hopefully shouldn't cause any problems.

Metalhead Fri 26-Jun-15 08:08:25

Oh and one other things my SIL said was that Down's is usually associated with a free beta hcg of 1.5-2.5 mom (the unit it's measured in), anything higher than that is considered low risk for Down's. My Papp-a was also a bit low (0.7 mom) but again I think it's really low readings that are of concern.

sebsmummy1 Fri 26-Jun-15 08:26:51

Thank you! I didn't know that about it being slightly higher not loads higher.

Interestingly I read a PubMed paper yesterday that said the following;

We have measured maternal serum levels of free alpha and beta subunits of human chorionic gonadotropin between 8 and 12 weeks of gestation in 704 women at increased risk for trisomy. This group was studied because of advanced maternal age or a previous birth with chromosomal abnormality. All sera had been collected prior to chorion villus biopsy for prenatal diagnosis. Serum levels of free alpha and beta hCG were determined by specific monoclonal antibody-based immunoradiometric assays. Analysis of chorionic tissue showed that in 38 of 704 (5.4%) pregnancies the fetus had a chromosome abnormality. There were 8 fetuses with trisomy 18 (1.1%) and 9 (1.3%) with trisomy 21. In all pregnancies carrying a trisomy 18 fetus, we observed either high levels of free alpha hCG or low levels of free beta hCG or both. More importantly, the calculated ratio of free beta hCG/alpha hCG was less than 0.25 multiples of the median (MoM) in 6 of 8 (75%) trisomy 18 cases. Only 21 of 666 mothers (3.2%) carrying a normal fetus had a ratio less than 0.25 MoM (P less than 0.0001). There was no difference between this ratio in trisomy 21 and normal pregnancy. Thus, when adjusted for gestational age, a low free beta hCG/alpha hCG ratio in maternal serum indicates a pregnancy at high risk [RR = 72 (95% CI 32, 162)] for trisomy 18.

It seemed to indicate that low hcg was a soft marker for a chromosome issue but not higher hcg as a stand alone thing. Yes when combined with other levels, but not as a thing by itself.

I think because it's happened once I can't help but think it's likely to happen again. I think it puts my risk up very slightly but we both me and DP had genetic testing, along with a myriad of other things, and everything came back clear. So I guess it's a bad luck thing exacerbated by my age of course.

I'm off for my scan this morning so I'll update when I get more news xx

KittyandTeal Fri 26-Jun-15 19:36:54

Our doctor at Kings in their feral medicine centre explained t13 and t18 as both low hcg and low Papp a. T21 was low Papp a and high hcg but that whatever the MoM measurements the hcg was usually double that of the Papp a with t21. He was explaining tours why I was very high risk for t13 and t18 but very low risk for t21.

It's hard to say don't worry, I'm sure there will be something I will worry myself insane about in my next pregnancy. However, as an outsider without any medical knowledge but possibly a bit high laymans knowledge of hormones and trisomies I would say try not to focus on the hormone levels yet lovely, it is more than likely to be absolutely fine.

I don't know if it will help but our doc at Kings who also works at the fmc (so sees lots of women with feral abnormalities) told me he has never come across a woman who has had a trisomy abnormality go on to have another baby with the same issue. (I know statistically we're higher risk that the 'normal' population)

I try really hard to keep this in mind whenever I'm freaking out about ttc and having another baby.

Metalhead Sat 27-Jun-15 09:29:32

Any news on your scan sebs? Hope you're ok. x

sebsmummy1 Sat 27-Jun-15 09:56:02

Hiya, I did try to write a reply last night but it got lost when I dropped my phone!!

The scan was fine thank you. Heart beat still evident and measuring slightly ahead for dates. The consultant didn't recognise the hcg as particularly high, she just said she was so happy it had doubled in the way it had and had had a little dance around the office when she got my results lol.

I know they are higher than they should be though so we are going to get the Harmony done through the hospital (if we get that far obviously). I really couldn't ask for more support from everyone who is treating me so even if it fails it certainly won't be from want of them trying. Mentally I am going to assume the worst as it's just easier. Thanks for asking about me Metal xx

Kitty that info was really helpful, thank you flowers

Metalhead Sat 27-Jun-15 10:36:09

Well that's good news, and I'm glad they're looking after you properly! I know the next few weeks will be really hard, just take it one day at a time. I'll be thinking of you.

KittyandTeal Sat 27-Jun-15 12:11:13

That's wonderful news sebsmummy!

Sounds like you're on track.

I've always said we would do a harmony test with out next pregnancy, simply because it in non invasive, it's the earliest chromosome test and it will (hopefully) put our minds at rest, or help us make a quicker decision as to what to do next. I'd say that's worth the money, although I know it is a lot.

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