I’m a specialist screening/fetal medicine midwife

[FMMidwife]

Obviously I can’t comment specifically on peoples individual pregnancies or plans of care, and there is a really informative and brilliant AMA below by a midwife. But if anyone had any questions about this specialist area I’d be happy to answer.

Background.... trained in economically deprived area, but have been working in a very middle class (and therefore older mothers, and therefore more issues with abnormalities) area for 11 years. Primarily worked in triage, birth centre and home birth before specialising two years ago.

Tomtom, we still say 1-2% chance of miscarriage and any loss within 3 days of the procedure is put down to the procedure. Obv babies with chromosomal abnormalities are more likely to die in utero so some losses will be coincidental. We have just finished an audit into our invasive procedures and I believe our loss rate was 0.7%.

@53rdWay yes lots of women decline, enough for it not to be remarkable at all. I declined myself! I’m sorry your decisions isn’t being respected. Sometimes it’s the culture of a unit, I have long noticed ours errs more towards the “get what you’re given, what will be will be” in terms of how the midwives generally think. Obviously that’s not great either sometimes.

@elliejjtiny not sure tbh. Women always worry, some are wired that way more than others. The existence of the test means that there are a small cohort of women who cannot be happy with less than a 1:50000 result on an NIPT, but it’s non invasive so there’s no “harm” if makes the process easier for them. NIPT has actually helped w lot in that regard as we have so few screen positives now.

Of all the testing is a double edged sword and obviously we can all think back to a simpler time when our mums were pregnant and tell us they smoked all over the place and sailed through pregnancy happily with no scans, and now pregnancy can be an endless series of anxious surveillances designed to produce a perfect baby. And for sure the tests mean that there are terminations that happen that I don’t think are quite the right choice (for instance a couple with multiple losses and IVF, conceived naturally, tests showed a very minor genetic problem, which would have meant sterility for the child and potential learning difficulties.... couple were devastated and terminated) because if the tests exist then women feel they must “pass”. But on the other hand I feel that they do save lives too, and heartache for those women carrying a baby incompatible with life.

@genome yes we keep really careful and thorough records. However we wouldn’t feedback misdiagnoses per se, scans are screening tests after all and often something can appear on a scan and not be there actually, and that’s not a fault of the sonographer, just a fact of the limitations of scan.

Do you remember some cases years later? I didn’t come across any fetal medicine Midwife’s but the fetal medicine consultant told me my daughter had died and then remembered me the following year when I went back with the same problem in a subsequent pregnancy (mostly because she told be it absolutely wouldn’t happen again so she was as surprised as I was), and in that pregnancy she ended up telling me the baby was very unlikely to survive. My baby was born very prematurely and poorly and transferred to our local hospital 2 weeks later so I doubt she’ll have known the outcome, 2 years later my DD is 100% healthy and normal and I do wonder if i should send the doctor a card to let her no but I’m not sure if she sees that many cases she just wouldn’t remember us at all. She did an amazing job, without her my daughter would absolutely have died. You have an amazing job OP, I’m thankful for all the staff that specialise in this field

I declined myself!

Do you mind if I ask why you declined screening in your pregnancy?

What are the most common reasons families give for terminating pregnancies with down's syndrome, and other similar diagnoses? Is it worrying about medical complications, worrying about once the parents die how the child would be looked after, something else?

Can nipt and CVS/ amnio differentiate when foetus has a mosaic genetic condition?

Hi and thank you for your hard work and for stating this thread

I had a baby a few months ago and my combined test came back high risk for DS (vvv high hcg) I paid for the nipt and it was negative.
I was very ill at the time but I fell to bits really- unable to carry on with normal life until the result care back. I am 37.

Since then I’ve known 4 pregnant women (similar age) and we have all come back high risk. With older mothers and the risk model is it capturing too many women as high risk unnecessarily?
I saw a friends blood test results and they were marginal (just over/ under 1 -NT measurement fine) and her risk slipped into 149:1 which made me wonder.

@Alb1 yes there are many cases that stick with you. I think that consultant would absolutely want to know about your daughter. There is a national surveillance scheme where any major abnormalities are reported by each hospital along with follow up so I would guess the consultant may already know, as we do collect that data.

@themouldneverbotheredmeanyway because I wouldn’t have terminated a baby with DS and I felt confident a baby’s with T18 or 13 would be picked up on scan. I didn’t want to have a high risk result and be worrying about it so just opted out. With DS2 we had introduced the NIPT as standard so I went for it, although still wouldn’t have undergone invasive testing.

Hi OP, my baby was found to have T18 at our 20 week scan. I opted to continue with the pregnancy and received exceptional care from the fetal medicine midwife and consultant. Thank you for the work that you do.

Ah I misunderstood @FMMidwife, I thought you meant you opted out of the 12 week scan entirely, sorry.

Sorry, to answer the other part of your question..... often we don’t go into reasons as such. It’s normally fairly nebulous as in “I couldn’t raise a child with severe problems” “I don’t think I could cope”. Most of our women are very privileged and affluent and it’s my observation that these women tend to opt for TOP, because they have high aspirations and expectation of their children, and obviously DS doesn’t sit with that. The women who don’t opt for TOP are almost always less affluent and tend to be younger, bigger families, more chaotic lives etc.

NIPT and CVS can’t differentiate between a mosaicism, amnio can. If we get a screen positive NIPT with no visible signs on scan we usually recommend waiting for the amnio as a diagnostic test instead of the CVS.

Thanks for this Op .
Do you see amniotic band syndrome much ? And is it picked up on scans now?

I don't have a question but 5 years ago at my 12 week scan and with the combined screening we were given a 1:5 chance of our baby being born with Down's syndrome. I fell apart but ultimately we decided not to have any invasive testing. Our fetal medicine midwife was amazingly supportive (as was our consultant), we were never pushed towards an amino and as far as I can remember termination was never mentioned. My baby was born with Down's syndrome syndrome and I have met and spoken to many people who have had a very different experience from us where they have been continuously pushed badgered to have testing and consider termination.

Anyway really my post was just to say thank you for all you do. I've always wished I had sent a thank you to our midwife so she knew how much I appreciated her but I have no idea how to find her now as we have since moved across the country 🙁

@Passthecherrycoke, yes the the combined screening has a high false positive rate. We have countered this by incorporating the NIPT so if you come back high risk you don’t even find out, the NIPT is automatically applied. It’s bought our invasive test rate down from 5 a week to 3-5 a month.

@Vika1985 I’m so glad you received supportive and compassionate care. I’ve supported five women through pregnancies where the baby has had T18 or T13 amd hope I was able to give them similar care to that which you received.

@WatcherOfTheNight not very often, no. One I can recall in the last six months and it’s always “suspected” rather than diagnosed.

@Cannyhandleit I am always really pleased to hear of women who’ve have good, sensitive care. I hope I provide the same. Once a woman has decided to continue then there is zero negativity from us, in fact we have a “congratulations” goody bag to give out to parents who are continuing with a baby with T21.

Hi op
Can you have a completely normal scan but still have a baby with Down’s syndrome?
Have you ever seen this?

I’m 40 and have 2 DCs aged 9 and 6. We are considering having another baby. I was lucky enough to have 2 wonderfully easy pregnancies and 2 very healthy children. I’d love another child but am worried sick about the increased risks due to being older - how much riskier is it really this time around for me?
Thank you.

@tomtom1999xx yes and yes

@FMMidwife I had diabetes in my last pregnant but so far don't have it this time, DS is on track to be over 9LBs meaning bigger than my first born. Does this mean I just have large baby's & the diabetes didn't effect DD's size?

Why aren't you more honest with people ? My son in hindsight had many issues but as a lay person we didn't know and we were told he was fine ..( I don't believe they thought that for a second ) .. is it because if he did turn out 'normal' then they could be sued? ( but how would they know ?).. I see people on here all the time saying their baby has this and that but the sonographers / consultants say it will be ok when it most likely won't be . ( I've learnt ALOT since my son came along ) .

Can I ask if Mumsnet checks these posters qualifications in the Ask me anything forums?

@Chickoletta honestly yes, it is riskier. Your risk of the baby having T21 is now 1:100 as opposed to 1:800 ten years ago. The risk generally of abnormalities is higher although the exact numbers depend on the condition, T21 is the most common problem so that gives you a ball park. Almost all the woman I work with, for raised NT/chromosomal abnormalities/structural abnormalities are over 40.

However you are vastly more likely to have a completely healthy baby. It’s about your perception of the risk and what it means to you. You could have a perfectly healthy baby and have a car crash on the way home from hospital and end up with a severely disabled baby, or they could get meningitis, or they could have a metabolic disease, or or or..... the list goes on and living life is running risk. Good luck with the decision x