Just wondering if anyone has been through anything similar and what the outcome was?
On 14/08, I had my first scan at 13 weeks. During the scan we were told the NT was high at 5.2mm but everything else looked good. The sonographer referred me to the Fetal Medicine Unit and advised they would be in touch with an appointment. I had my bloods done for the combined test and we left
On Tuesday 15/08, I received a call asking if I could come for an appointment at FMU the following day. I met the consultant who did a scan and told me that everything looked good but my bloods had come back with a 1 in 5 chance of Down Syndrome and a 260 chance of Edwards and Patau- I am 25 so my risk before this was something like 1 in 1300 and < 1 in 5000
My results were
bHCG 0.51 MoM
NT 2.86 MoM
PAPP-A 1.58 MoM
He went through our options and came up with a plan that I would do the NIPT & Torch test that day, he would refer me for a fetal cardiac scan and he suggested to do an amniocentesis when I reached 15 weeks
The next few days of waiting on the NIPT results were torture and I was an anxious/crying mess- it felt like a lifetime of waiting! When the midwife finally called and told me the results came back low risk, I felt so relieved but it was onto the next hurdle
I then had the fetal cardiac scan and was told everything looked good but (there always seems to be a but...) she noticed tricuspid regurgitation which can be a sign of genetic abnormalities regardless she would like to see me at 20 weeks
I am going to go ahead with the amnio as I need to know for sure but I just wanted to know if anyone has been through this? I have probably read every inch of google but am trying to prepare myself for the worst. It is such a lonely and worrying time