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.

I paid £350 for my NIPT at the lab that supplies the NHS and that’s the cheapest I could find so it must be much more expensive. It’s a DNA test, it needs specialised equipment etc

Makes sense!

@FMMidwife sorry, I didn't realise you had replied.

My dd was born with a significant heart murmur. I had GDM and was insulin resistant from end of second trimester/all of 3rd trimester. Scanned every 2 weeks and it wasn't discovered until she was born. I was just curious if an ultrasound could pick this up.

Fascinating thread

DC1 was born after we had several miscarriages (were under recurrent miscarriage clinic and our testing came back to show no reason for the losses. Which is most common outcome)

DC2 showed echongenic bowel at 20w scan so we were followed up with regular scans / genetic testing (E.B can be a marker for CF) and bloods to rule out toxoplasmosis etc... baby was born healthy and this echongenic bowel was never mentioned again.

DC3 was low risk pregnancy but I developed GD at 29 weeks. I had regular consultant appointments and extra scans. Planned induction for 39 weeks. Growth scan at 36w was repeated at 37w and due to deep pools of water (not deep enough to diagnose polyhydramnios) and reduced flow from me to placenta I was induced at 38w. Baby was in Neonatal from 3h and diagnosed with rare genetic condition at 11 days.

Wondering if it's all interlinked? My miscarriages / echogenic bowel / gestational diabetes / DC3 condition?

condition type DC3 has is random / deletion on a specific gene and not hereditary BUT* I cant help but to wonder? DC3 is also a carrier for another condition, meaning me or DP are too and our older kids will need to be screened at school bearing age.

Waiting to meet with gentecist to discuss.

It’s a very interesting thread OP. Thank you for what you do. I have had a firsthand experience with fetal medicine unit 6 years back after I had a very high risk DS scan at 12 weeks (53:1). I did NIPT privately and it was negative. Then went on to have IUGR and severely premature baby (latter due to an early onset of preeclampsia). The list of her conditions took an entire page and included very high likelihood of CP (based on her brain scan). But now at 5 she is a healthy and a very happy child (no CP). The only thing that reminds us of her difficult start is that she has always been on the bottom of the growth charts - but then she is a fussy eater and very active. And just been diagnosed with ADHD - but my DH has that as well, so she might have had it anyways. I received an exemplary care from NHS, the consultants and nurses alike. It was so very important for me at that difficult time. My question is how often do you see women in your unit having complicated/high risk pregnancies with a second child after it happened once? Of course in our case the doctors could give us no assurances if we were to have another child, and a perspective of a child with disabilities is really scary. My daughter spent 3 months in NICU and that’s the scariest place on earth.