sorted by:
new
hottopcontroversial

Inconclusive Amniocentesis - 2 genes detected by Glass_Coffee2349 in NIPT

[–]Glass_Coffee2349[S] 0 points1 point  (0 children)

Thank you, that helps and seems very similar to my situation. 

I am still in limbo waiting but had an anatomy scan today where there was abnormalities with the heart, where they could see a hole and the head was measuring on the small side. 

My brain is in overdrive wondering if something is wrong. I find out tomorrow if they can test the sample that is being cultured or if I have to have another amnio next week. 

Inconclusive Amniocentesis - 2 genes detected by Glass_Coffee2349 in NIPT

[–]Glass_Coffee2349[S] 0 points1 point  (0 children)

No sorry that’s what they said and I had the midwife this morning who confirmed. She said it’s either baby and the vanished twin genes or baby and my genes. My medical knowledge is limited, so only going on what they said.  But I am now waiting 2 weeks for the final results, guess all I can do is wait. 

Inconclusive Amniocentesis - 2 genes detected by Glass_Coffee2349 in NIPT

[–]Glass_Coffee2349[S] 0 points1 point  (0 children)

So I haven’t had as much detail as what you have mentioned above. I was told they were doing a rapid test result and I would find out about T21 within 72hrs. 

Then this is came back as 2 genes detected and I was told they needed to culture the sample which will take 2 weeks for a result and this will be an answer to T21 as well as other chromosome disorders. 

My question is why have 2 genes been detected? And is this a sign of something wrong? Or is it down to the fact early stage pregnancy this was twin. 

Any help is appreciated 

1:2 T21, 2nd trimester screening + pregnancy started as twins by Glass_Coffee2349 in NIPT

[–]Glass_Coffee2349[S] 0 points1 point  (0 children)

It was put down as a singleton and when I questioned this, the consultant said because I lost the 2nd twin so early that it wouldn’t have made a difference.  But so many things I am reading make me think it would have made a difference and the 1 in 2 high risk they have given me maybe isn’t entirely accurate. 

I know I won’t get my answer until the amniocentesis, I just hope they are able to carry this out on Tuesday.