Amniocentesis NHS - what does it detect?

[rambosion91]

Hi, we have recently had an amnio on the NHS. I wondered whether this can detect Sickle Cell & Cystic Fibrosis?

Hi, my understanding is that they typically test for Downs, Patau and Edward’s syndromes, but they can test for other genetic conditions too. Are you at particular risk?

It can but they won’t unless that’s specifically what you are looking for.
If you are having an amnio for abnormalities found on scan, they will do a full karyotype
For a screen positive result for one of the screened for chromosomal abnormalities they will look for T21/13/18 and sex chromosomes
To detect Cf/sickle cell/thalassamia they will look for that specifically along with 21/18/13 and sex chromosomes
For other very rare and unusual conditions it will be same as above

It can be used for cystic fibrosis and sickle cell, but I don't know if they target the testing done with the fluid they extract.

I had it done to test for trisomy issues - they initially screen for downs, Edwards and patau's, then would have extended to the rarer trisomy conditions if they hadn't had a result from those.

Sickle cell and cystic fibrosis weren't mentioned to me as being included in the screening, so I assume they target it where necessary.

Have you had a fetal medicine department appointment? If you'd had a referral, give the department a call and ask someone to call you back to discuss what they're testing for.