Older mums: did you have CVS or amniocentesis!

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This might be the wrong thread to post in but just wondered if any Mums over 40 did additional genetic testing? This is my first time in the over 40 bracket. I’m quite paranoid about everything because one of my colleagues kids has a very, very rare genetic disorder. Did you do CVS or Amniocentesis and if so, was it horrendously painful?

Or if you didn’t what were the reason you decided against it?
I have a chat with the GP next week, but just thought I’d scout on here.

I was 40 when I had DS. The only tests I had were routine scans. At 43 I was pregnant again, had the 12 week scan and the results weren't within the normal range. I went on to have CVS testing. Unfortunately the results weren't good. I went on to have a termination.

I did the NIPT blood test. less invasive, less risk, more things screened for. If it had shown something then they would have investigated further.

However, nothing is 100% & it doesn't cover everything. Both my kids have ASD. Which I've since realised is generic in my family & not age related.

I’m 38 and plan to have the NIPT after 10 weeks. You get the results earlier (don’t have to wait for the 12 week scan and any follow ups) and there’s no risk to baby as it’s a blood test.

I’ve had two CVS tests - not because of being an older mum but for genetic testing. Just to reassure you neither time hurt particularly at all, it’s more uncomfortable. I didn’t watch what was going on.

Okay, that makes sense, an NIPT blood test first. I think I would rather know.
@MrsBeltane I’m so sorry it wasn’t the news you were hoping for. That must’ve been quite traumatic…hugs

I refused amnio, as I wasn´t going to have an abortion, so what´s the point. Everything went fine so happy ending. I had all the other scans, including the extra ones booked for being over 40, none flagged anything of concern. My husband was slightly concerned about her having a heart complaint, as he has congenital heart disease, but she was fine. It was explained to him that the problem with his heart was random. If you are concerned have the non invasive tests. I would not do amnio, but each to her own.

Not an older mum but I had a CVS test done when I was pregnant with DD and while it was uncomfortable and a little sore for a few hours it was nothing that resting up on the day it was done didn’t sort out.

I think the NIPT is accurate enough for it to be the default, without needing further tests unless you get a high chance and want confirmation. I’m 43, have an elder child with Down’s Syndrome (born when I was 33), so was referred straight to the NIPT on the NHS, got low chance for all 3 trisomies, but was also asked to do the combined test anyway for the PAPP-A analysis. I was amazed to discover my chance for DS there too was 1 in 2,157! I was fully expecting that to come out as very high chance given my age and history (both on their own would give chances of around/less than 1 in 100), so I have to assume my PAPP-A and HCG results must have been exceptional to counterbalance those!

Would CVS or amnio pick up on any of the rarer disorders anyway? I thought they also just caught the main 3 trisomies…

I was 41 when I had my dd. No extra tests and she is now a healthy 3 year old. I was 39 when I had my ds. He had an incredibly rare genetic disorder. After he was born the testing took over a year to identify his syndrome. There were some indicators that there was a problem as the pregnancy progressed but I don’t believe the genetic testing would have identified it. The geneticist said his genetic disorder was unlikely to be age related - maybe he was just being kind to me, I don’t know, but that is what he said.

Is NIPT what used to be called the nuchal fold measurement? I had that both times but nothing else.

No, it’s something else entirely (a test of your blood that can reveal genetic abnormalities in the foetus).

Depends what they test the sample for. They could test it for anything.

I got pg at 41 and had the NIPT, which showed high risk of Patau's so I had the CVS to confirm. Then I went on to have a tfmr after it was confirmed. The cvs was uncomfortable, yes, but it felt necessary in my case as I would have wanted to terminate if it was confirmed, and the NIPT isn't diagnostic. I had to have 2 attempts on separate days to do the CVS, as it was tricky (with a very highly regarded consultant). I can't remember exactly why, it might have been related to me having a retroverted uterus?

I would definitely recommend getting the NIPT as early as you can, as that's quite simple and low-risk. I don't believe it's common to get the CVS or amnio as a routine procedure unless other tests/background history are showing a higher risk, because there's a small risk of miscarriage. If you would proceed to a tfmr in the case of severed disability, it's best to get the tests done as early as possible, because the tfmr procedure gets more complex and unpleasant the later it is done.

Thank you. Is nuchal fold not a thing any more? Nobody seems too be mentioning it.

@Loneate thanks so much for the detail. I’m so sorry you had to go through that and I hope everything is settled in your life now.

Okay all of the information on these posts makes sense, thank you. I’ll try and get the NIPT blood test done at 10 weeks which I guess I’m gonna have to do privately. And then we’ll take things from there.

Yes they still do the nuchal fold, mine was very high, but it was already clear something was wrong from the NIPT results which came back at the same time. I think on its own the nuchal fold is less reliable and sometimes gives a higher result when nothing is wrong.

Nuchal fold measurement is one of the factors that go into the combined test (together with age and the bloods that look at HCG and PAPP-A). So yes, definitely still a thing!

Worth asking at your booking appointment whether you can get the NHS NIPT rather than the CT given your age. I don’t know whether age alone is enough of an argument to get parachuted straight to the NIPT, but worth asking the ask and it might save you a few quid!

I was just under 40, but the NIPT didn’t work for me. I tried it three times and they ended up refunding me!! I just had the normal NHS tests and all came back very low risk, so there was no need for further testing.

Trouble is, some of us have very little faith in the accuracy of the combined test. I was 1 in 1,900 with my daughter for Down’s syndrome and she ended up being that one and diagnosed postnatally. After that, ironically I was more concerned about the CT giving exaggerated high chance results (as apparently having had a child with DS automatically increases your chance to 1-100), so I went straight to NIPT for subsequent pregnancies, as it looks at the actual DNA rather than the proxy variables that feed into the combined test. Still non-diagnostic, but much more accurate.

Twenty years ago I had a CVS because I don't like "chances of", or likelihoods, I like facts. I didn't have an amnio because I wasn't worried about spina bifida. Also you have a CVS earlier than an amnio.

(I looked into the risks and it seemed to me that there was no real raised risk of miscarriage with an invasive test, it's just that riskier pregnancies are measured. So perhaps a correlation, but not a causative link.)

I watched on the screen as the doctor did it, it was fascinating. Felt a little bit sore but just took it easy for the rest of the day. Oh and I had to have a delightful anti-D jab, as I'm rhesus negative. The jab hurt more than the CVS 😆

@curliegirlie thanks, just so I’m understanding correctly are you saying that you believe that more modern NIPT is okay?

There’s a couple of NIPT options at various London clinics because I know Harmony isn’t in the UK anymore. It’s hard to tell what the difference is:
• Prenatal Safe3
• Panorama
• Illuminia

none of them bloody say what the difference is. Maybe they’re just a brand name by separate labs?

Congratulations on your pregnancy :)

Agree with lots of what has been said already. Just wanted to clarify a couple of things:::apologies for the essay!

• common trisomies (eg Down syndrome) are age related. Rare genetic disorders in general are not.
• NIPT is an excellent screening test for common chromosomal differences (>98-99% pick up), and it will pick up rarer variants, but only those where there is a chunk of chromosome missing or doubled up - it doesn’t check for single gene differences (ie small spelling mistakes in the DNA code). I believe it is possible to check for some of these in a targeted way on NIPT now, but not routine and not available where I am. bonus as PP say - no risk to baby from NIPT
• nuchal translucency is the measure that is done for screening at 12-14 weeks.it should still be checked as part of a detailed first trimester scan even if you are having NIPT, but instead of being plugged into a calculation (with the combined first tri screening) it is used as a simple cut off - >3.5mm gets further assessment
• this is different from nuchal fold which is similar but measured in a different plane at the 20 week scan. NF is much less useful for screening purposes but can be considered a soft marker for DS/other abnormality. Cutoff at that gestation is 6mm.
• a CVS or an amnio can be done for advanced maternal age, reassurance only; but it does carry a small risk of miscarriage (in the range of 1/300-1/1000). It would not typically check for all genetic differences, (AFAIK in U.K.) layer of testing is called a microarray where it would be checked for all whole chromosome disorders, as microdeletions/microduplications (which are a chunk of chromosome missing or doubled up). it is possible to check all possible genetic differences which is called a whole exome sequence, but that is very costly and has some drawbacks, I would not expect it to be publicly funded in the absence of fetal abnormality unless you’re in specific locations (I believe some countries do do this, Israel possibly)
• ANY type of genetic testing carries risks of its own with regard to the information you receive. The more detailed the test, the more likelihood of an uncertain result. This can be something called a “variant of uncertain significance” where there is a difference but no one really knows what it means. Or it could be a definite abnormality, but where we know that there is a huge range of possible outcomes, from normal/near normal through to more significantly affected. You can end up in a really tough spot with information you might rather not have had.
• there is the option for carrier screening if you thought that might be helpful to you. Essentially you and your husband/partwr/FOB would both do a blood test, they’re analysed together for a panel of known important disease-causing genes. If the results show that you’re at risk of passing something significant on to your baby, then you’d have the option for targeted CVS/amnio for that condition. Worth some thought perhaps?

sorry this got very long! As you may well have gathered, I work in this area. I’m also similar to you in age. My approach for all my pregnancies has been to do the NIPT, and the scans, and to only consider extra testing if there were differences on those screening tests. Some women do feel differently though so it’s just important you’re able to make an informed decision :) all the best

Yes, absolutely! Have a shop around, as I think some brands test for some conditions outside the main 3, but if it’s it’s just the trisomies you’re concerned about, as I said, ask at your booking appt if you can leapfrog the combined test based on age risk, and if not, you’ve still got time to book an NIPT privately, as they can’t do it before 10 weeks anyway.