Older mums: did you have CVS or amniocentesis!

[sellotape12]

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.

OP, you need to look into what exactly is tested for in each type of test, and consider what specific conditions you're worried about. There is no test that will tell you definitively that your baby will be healthy.
The standard NHS pathway in most hospitals is to offer the combined test first, which combines the baby's nuchal translucency measurement, your demographics, and your Papp-A, to calculate the probability of the baby having Downs, Edwards, or Pataus syndrome.
If you receive a high probability (more than 1 in 150) you will be offered the NIPT, a blood test that looks at fragments of the baby's DNA in your bloodstream. On the NHS, this again gives you the probability of the baby having one of the trisomies mentioned earlier, but with greater accuracy than the combined test. The NIPT is also available privately, and different providers will test for more or fewer conditions - generally it can only detect conditions that are caused by an extra or a missing chromosome.
The next "level" of testing is the CVS or amniocentesis, which is the only way of diagnosing anything with certainty, as it looks at longer strings of the baby's DNA. The test will be requested on the basis of specific disorders that are suspected - so if you've had a high chance screening result for Edwards Syndrome, that's what they'll look for in the CVS sample. Or if you have a family history of Muscular Dystrophy, they'll look for that. If you have an older child with a set of symptoms where a mitochondrial disease is suspected, they can look for evidence of mitochondrial disease in the sample. So it's not a test to confirm that your baby is healthy (I realise that's not what you asked, but I've worked in antenatal screening and it's a common misconception). In theory, they could do whole genome sequencing on a CVS or amnio sample, and that would look for a broader range of conditions, but they wouldnt do that on the NHS without very good reason, and I don't know if it's available privately. I imagine it would be prohibitively expensive, and still wouldn't be able to give you the assurance that your baby definitely doesn't have a genetic condition.
How many weeks are you?
(Edited for typo)

Crossposted with @TenThousandSpoons00 whose post manages to be both more succinct and more informative than mine 😅

Gosh, both of those detailed posts were incredibly helpful – thank you so much. I’m only seven weeks and I have an early pregnancy scan on Friday at our NHS hospital. So just trying to think ahead really. We have a friend of a friend whose second child had downs and it wasn’t picked up on the standard NHS test. It’s been a bit of a shock to them although they obvs love her to bits.

i was pregnant at 41 and paid for a nuchal fold scan but wasn’t offered any NHS testing

I did the panorama test in my first pregnancy at around 10 weeks, which picked up trisomy 21 (downs) I took this to my NHS hospital who did a scan (they didn't tell me much, but I've looked at the report since and there were some soft markers) and then did a CVS to confirm the suggested diagnosis. It was pretty traumatic for me to have the CVS done, but not hugely painful. It's not something I would do again without needing to. I have heard (from arc - antenatal results and choices charity) that panorama is more detailed in what they test for, microdeletions I believe, but could reveal something that isn't necessarily a problem but cause anxiety. So something to consider - I don't know much about it, that's just what I was told that they favour the NIPT.

I'm pregnant again now and was told I should be offered a NIPT on the NHS but it's a screened ivf embryo, plus came back low risk.on the combined test, so they said I didn't need it and they wouldn't offer it but I could get I done privately. If it wasn't for the pgta testing I would have done for peace of mind, despite the low risk result, but that's really because of my history, I don't think I would have thought more about it otherwise!

@curliegirlie wow this has worried me a little, I'm 39 and my risk for downs is 1 in 330. It says that's low but doesn't seem it compared to yours!! NT was 1.9 so I'm hoping all is fine but I thought my risk was a bit higher due to age but maybe not the case 🤔

DD’s NT was 1.9. Probably one of the reasons we were so low chance. Also she had no heart or bowel issues, which I think would have been picked up antenatally. I think the fact she had no other health issues, luckily, definitely meant she was more likely to slip through the net. If that’s spooked you a bit, do go and book yourself a NIPT, which will hopefully give reassurance. To be honest, I’m glad her diagnosis was postnatal, I think all the threads you get on the antenatal tests board would have scared me to death, and now she’s a wonderful 10 year old!

@curliegirlie I'm glad your dd is happy and healthy, that's the main thing! ❤️ Can I ask what your risk came out as with her? Also did your Pap A indicate anything? Sorry for all the questions, obviously I'm just a little worried now, thanks x

DD1 was my 1 in 1,900! No idea of the PAPP A score or even if it was in the results. But I guess it must have been a “good” level. I think the age-related risk for age 33 is something like 1 in 206, so the other “markers” must have looked good, even if wrong! I wouldn’t let it worry you too much though, especially as the NIPT is available if you want something more accurate.

I had my DC at 40 and 44. My 12 week scan and blood tests showed no issues so I wasn’t offered any additional tests nor did I request any. Both my children are fit and healthy with no health issues.

Because I was over 40 I had to give birth in the hospital, I wasn’t allowed to go to the midwife led unit. I had extra scans later on in my second pregnancy just to check growth and for both pregnancies they said they wouldn’t let me go past my due date and I was booked in for inductions a few days before they were due. They both came early so the inductions were not needed.

This probably seems nitpicky, but Downs is never "picked up" on the standard NHS test, because that test only gives a probability; it never totally excludes Downs. So even if your screening test comes back at 1 in 5,000, somebody has to be that 1. It probably won't be you, but the possibility is there.
I also have a friend who received a very low chance screening result, and has no risk factors for Downs, but the baby was born with obviously dysmorphic features and the diagnosis confirmed by genetic testing a couple weeks later. A huge shock for them, but their original screening result had been explained to them as "The likelihood is very, very low, but it's not impossible. If 5,000 women with your result were in a room together, one of them would have a baby with Downs", so it was always in the back of their mind as a small possibility.
The other thing to consider of course is that, if you do have a Downs diagnosis, there's no test that can tell you how that will present in your child - how severely their motor / cognitive abilities will be affected, whether they will develop cardiac/kidney problems later in life etc. Some adults with Downs live independently, some require round the clock care, and IME people either have a very romanticised view of Downs or a very catastrophic one, neither of which is especially helpful.

Yes thanks. I have a 10 week scan and NIPT booked next week.

I had amnio - zero pain and didn’t feel a thing. I was so stressed and anxious, but to my surprise I didn’t notice when she started and when she finished, it was performed by a surgeon with yests of experience.

I did this (aged 42) for those reasons

Not an older mum, but had an amniocentesis as had a higher risk come back from the double test (posdibly. I recall it was uncomfortable rather than painful. The thing I remember most was that the room was very hot!

Thanks, my NIPT is next week so we’ll take it from there. Found out a friend had amniocentesis (age 31) due to a suspected issue and she said it was uncomfortable but more nerve-wrecking.

DS is 19 and I was nearly 41'when I had him. I had I think a NIPT (blood test and scan) though by the time I'd had it had decided I would carry on with the pg anyway so just wanted to know

I had decided not to have CVS or amnio, though not sure if the NIPT was high I would of stuck to that IYSWIM

NIPT came out in 2011; unless your DS is 19 months rather than 19 years you probably had the combined test.

I’m 45 and currently 24wks - we had NIPT at 10 weeks which came back less than 1 in 10,000 for Down’s, Edward’s and Patau’s, then the NHS combined screening that came back 1 in 2 for Edward’s/Patau’s.

Straight to fetal medicine for a detailed top to toe scan at 16, 18 and 20 weeks and everything seems to be absolutely fine - we had the option of the amnio but fetal medicine were so confident and reassuring after that first detailed scan we decided not to take the (albeit tiny) risk.