Can somebody who knows something about genetics please tell me what the chances are of something related to chromosome 18 showing up on microarray when qf-pcr showed no evidence of trisomy 18? NIPT showed high risk t18 but qf-pcr ruled it out. Very confused.
Hi all it’s me again, the rollercoaster of this journey continues. We were referred to fetal medicine after the nt was raised at our 12 week scan 3.4mm. They confirmed at FM it was raised and that time measured 3.5-3.9mm. I did the NIPT which came back high chance of trisomy 18. A midwife phoned to tell us the news and made it very clear of the prognosis and subsequent required termination. We’ve spent 2 weeks in devastation waiting to have an amnio. I had the amino to confirm the diagnosis and received a call Thursday to say the amnio has come back as no evidence of trisomy 18,21 or 13. We were absolutely mindblown. We now await the microarray and know that it could very likely be another condition. It was mentioned at the amnio that she suspected a heart abnormality but then the report says normal fetal heart seen before and after the amnio. So much conflicting info to take in. Has anyone else been in a similar situation and what was the outcome? Thank you 🩷
Hi everyone, I suffer with anxiety and just wanted some advice regarding time off work (uk). We had our NIPT result come back 2 weeks ago showing the baby has Edwards syndrome (I know it has a small chance of false positive but the midwife was clear where we likely stand). I took the rest of that week off work (3days) plus the bank holiday weekend. I returned on Tuesday as I decided I wanted to try and return to work in the meantime whilst I await my amnio and tfmr, as I work in a school and felt guilty like I was letting them down if I had a large amount of time off. I have my amnio tomorrow and now feel like everything has just hit me at once and it’s all just too much to contend with work too. I have two weeks left until half term and then likely my tfmr during that last week or during the week half term, meaning I would likely be off the week after half term also. If I went off sick now and had what I’d just mentioned off it would mean I’d have a total of 4.5 weeks off (which includes a week of half term). Does this sound reasonable as I don’t want them thinking I am asking for too much. Life is so cruel, it took us 2 years to achieve a positive pregnancy test and this was our first pregnancy. A dream so wanted and then so cruelly taken out of our hands. Thank you x
Anyone in the uk been awake for their d&e and if so what was your experience? I am 26 and will be facing a d&e in a few weeks due to my baby having Edwards syndrome. I am absolutely terrified of having general anaesthetic because I’ve had a few episodes of strange heart rhythms in the past although nothing has ever been diagnosed, as the symptoms didn’t occur when I was on the holter monitor.
Had my NIPT result back today and it was positive for Edwards syndrome. My partner and I are absolutely heartbroken. We are 26, it took us 16 months to conceive and this was our first pregnancy. It feels like we may never be parents with the luck we are having. Devastated 💔
Anyone actually had a healthy natural pregnancy? I have PCOS and my partner and I struggled massively with conceiving. I do ovulate every month but the doctor said it’s likely the quality of the eggs I do release that’s the problem. We eventually conceived after nearly 2 years and now been told our baby is high risk for Down syndrome. I can’t help but feel like my eggs are just doomed, not good enough to fertilise and now the one that does were faced with this. I have the worry of what if this happens everytime? UPDATE: results show baby has Edwards syndrome💔