Fetal chromosomal abnormality

[Hilli]

Hi,

I'm almost 17 weeks. About a week ago I had amnio after I had a positive result for XYY extra sex chromosome from the NIPT screening blood test. A day after the amnio procedure I got the preliminary Fish result which was consistent with the NIPT showing XYY. It might take another week to get the final result and the waiting kills me.

I'm aware that most likely that the final result will be just the same, taking that two different tests are consistent with each other but I'm still wondering if anyone had the same experience and got a different answer for the final amnio result?

[2Baby2019]

Hi is the amino the test they do when they take a sample from the uterus? Sorry hope u don’t mind me asking you

[Flibbertigibbet]

Hi, Congratulations on your pregnancy!!

I'm not sure what XYY an extra sex chromosome means?

I do know that even though NIPT test can tell you your chances, it has been wrong for some people. The only way to know for definate is to have an amnio, though many don't see the point if they would keep the baby anyway as the test carries a slight risk of miscarriage.

My son has Trisomy21 (Down's Syndrome) we found out when he was born. I though it meant he would have a bad heart and lots of health issues, but he doesn't. He does have a slight learning delay (age 2, learning at 18month level with some things) , but Down's Syndrome is a Learning Disability so it's to be expected. He is Walking and toilet training, goes to mainstream School, lots of parents have diferent experiences. some parents have shared their real life stories on

PositiveAboutDownSyndrome.c...

You can contact them for impartial, balanced advice.

Hope this helped, Cristina. x

[LisaNapoli in reply to Flibbertigibbet]

Hello, was not detected in any way by NT scan at 12 weeks? or other tests?

[Flibbertigibbet in reply to LisaNapoli]

No, It was not picked up on scan in any way! We asked if there were any markers and were told no & he has no health/heart conditions.

We did not have NIPT as it can only tell you the chance of having a baby with Down's Syndrome & can be wrong! The only way to find out for definite is to have an Amniocentesis (CVS), which brings with it a risk of miscarriage & we wouldn't have risked miscarriage.

[LisaNapoli in reply to Flibbertigibbet]

I totally understand...I just had my NT results and came out 1:4200 and the other two 1:100000

[Hidden in reply to LisaNapoli]

Hi Lisa, your results would be low risk right?

[LisaNapoli in reply to Hidden]

Hi, yes it's low risk, the cut off is lower than 1:150