CVS & NIPT

[charlannelouise]

Hello All,

Yesterday I went for my 12 week scan and had some worrying news. The nuchal transparency was higher than the normal rate at 4.2mm. They then completed the first stage of screening by taking a blood test and the result came out at 1 in 11 for Down syndrome and 1 in 280 for Edward's syndrome. We are now waiting for our appointment on Thursday where they are going to do a greater depth scan to have another look at the nuchal transparency. They will then offer us the NIPT or CVS.

I feel extremely overwhelmed by all of the information I have been given and very unsure of how to navigate all of this. I am only 25 and naively didn’t even think about this.

Waiting for the phone call today was torture and I know waiting for the appointment is going to be hard. Just wondered what others experiences were like.

Thank you x

Hello @charlannelouise
I am going through something similar myself so whilst I can’t give you answers I can tell you my experience.
we had our 12 week scan last week and I was measuring 13 weeks. NT was 4mm. It’s was so stressful going from an exciting appointment to it becoming a very scary appointment.
Everyone is different. I opted to go straight to CVS - it gives you a complete and definite picture but NIPT only tests for the most common conditions. I believe that if NIPT is positive the next step is CVS/Amnio anyway. For us the miscarriage risk was much less than the risk of having a genetic condition.
I had my CVS and received preliminary results that ruled out downs, patau, Edwards and turners very quickly. Now we wait for the full microarray which takes about 2 weeks.
Im so sorry you are going through this too. The waiting is absolute torture. Keep yourself busy. Take it easy and allow yourself to rest x