NIPT Tested positive for trisomy 21

Pavi

Hi all I am currently 14 weeks 5 days pregnant. I am 29 years old with a 4 year old boy.

This pregnancy started of normal and when I had NT SCAN and blood tests at 12 w they said NT measures 3.3 mm and free beta hcg 3.584 Mom and Papp A 1.271 MoM.

I was given 1:32 risk for trisomy 21.

I got referred to a hospital but it took forever to even get a call that they have got the referral. They told me it takes 4 weeks .

Now I went back to my gp and asked for NIPT. And the results came in yesterday.

It says ANEUPLOIDY DETECTED FOR TRISOMY 21. So once again my gp faxed the fetal maternal unit and told me to visit them on Tuesday because of Easter.

I live in western Australia and the test I have done is NIPT generation from genomic diagnostics.

I literally crying my heart out, I had some hopes reading stories of people whose Nipt came back negative after high risk 1st trimester screening. I'm currently out of my mind and so low. I know it takes time to get used to the news. ..

I have always been wanting a girl and we also found it's a girl.

We really dont know what's in store for us. I am not working , uts just my husbamd and so I don't know how things would go.

We looking for doing cvs / amnio whatever the hospital suggests.

Any positive stories after NIPT???

BUT my gp was like, as soon as I entered his room, " we have got a bad news for u ". He is pretty sure this result is accurate, but also just said it's a screening.

Anybody have any positive stories to share ? Or any information?? I really don't have anyone to talk to and I live very very far from my family.

Thanks in advance friends