I've been meaning to post this for a while, but waiting until we know for sure!
TLDR - we had a 1:3 risk of Downs Syndrome in the combined screening, with 4.5x beta-hCG and 0.4 PAPP-A. We also had 2 issues flagged in the anomaly scan - heart and stomach. Baby is here and fine! 😍😍😍
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Longer version - my wife and I met and married fairly late in life. She had 1 child already, was 41 when we met and we tried for a baby but accepted it may or may not happen.
She was pregnant twice at 42 and 43, both lost around 10 weeks. We started IVF, with 1 round of egg retrieval and fertilisation - none passed PGT. We were considering what else to do when she got pregnant again, days before her 45th birthday.
As we were under the care of an IVF clinic at that time, and with 2 previous miscarriages they gave her progesterone, aspirin and anti-sickness medicine. They seemed they'd do whatever they could to help the pregnancy along, as opposed to the previous 2 where the NHS just didn't really want to do anything and just basically manage the miscarriage after the fact. She'd also been on supplements containing CoQ10 for ~1 year by then. It's hard to know if 1 or all of those made a difference but this pregnancy continued.
Given our ages we already decided to do private NIPT, and I picked a very comprehensive one - PrenatalSafe Karyo Plus: https://www.prenatalsafe.co.uk/which-test-should-i-choose/
Annoyingly, the nurse at the clinic that we picked to draw blood was completely incompetent and messed up the blood draw, so we had to wait another 3 weeks for a new appointment. In that time, we did the NHS combined screening and were so dismayed to get the results - 1:3 for Downs Syndrome.
We then got the NIPT results about 10 days later, which showed all ok - including the more obscure conditions that tested for. So we were quite torn, but inclined to believe the NIPT given the stats for it. But by then we'd had the 20 week anomaly scan and been referred to fetal medicine for follow-up for an enlarged stomach and enlarged aorta.
The follow-up ultrasounds showed no issue with the stomach but we were referred for more scans of her heart - as this was considered a marker of connective tissue disease. We decided to go ahead with an amniocentesis, which came back clear as well. We had another 3 heart scans and at each one the variation from the normal range of her aorta got smaller and by birth it was at the top end of normal but within the accepted normal range.
Anyway - the rest of pregnancy progressed and she was born last November, perfectly healthy. We did another heart scan at 4 weeks and that was also ok, but we'll have annual follow-up scans I think for a few years just to check.
I thought it was worth sharing as I know how desperately I was trying to find information as we went through the pregnancy, particularly after the combined screening, and with the conflicting NIPT.
Some other thoughts...
We're in London - our day to day care was at University Hospital Lewisham. Not the best part of town or the prettiest and newest hospital but they were fine, and the experience for the birth in particular was excellent. We got lucky - they were very busy, so we had a private room that I'm not sure we'd otherwise have got.
Our follow-ups were at St Thomas / Evelina for the heart scans and the Fetal Medicine Institute at Kings Hospital. We were impressed with how connected everything was in London and we were blown away by the speed and level of care - we'd have referrals and appointments within 1 or 2 days to world-class experts and constant follow-up, support offers, individual contact information for top geneticists, nurses etc.
In particular I'd vouch for the amniocentesis at the Fetal Medicine Institute and I'll share my view on the safety/risks. The public NHS stats are miscarriage risks of 1 in 200. That is 1) out of date and 2) across all providers. The higher volume a certain provider does the less miscarriage risk - as they are doing amnios all day every day. FMI said they had never had a miscarriage that they knew of, and said (off the record) they'd view risks as more like 1 in 1000. Obviously that's not the official line, but I thought it was worth sharing. It checks out with what I'd found from research as well. Another point is that the miscarriage risks include people who would have had a miscarriage anyway - i.e. the stats are for "people who miscarried after an amniocentesis" but they can't separate out "people who miscarried because of the amniocentesis". In some of the information I found, the added risk is negligible or maybe even zero. So of course make up your own mind, but if you are considering getting an amnio, find a specialist who does lots of them, and don't be too put off by the NHS stats.
^ please keep in mind personal thoughts only - the official statistic is the official statistic!
Finally, back to the supplements etc. By the 2nd miscarriage I'd read a few things online and here about use of progesterone to help the pregnancy progress. We'll never know if the previous pregnancies would have gone differently if we'd had more support and some medication in them, but it does raise the question of should we have got them and should we have pushed more. So that may be something to consider.
Anyway - a long post, but hopefully helpful to some.