Chromosome defect - blood testing

[louise2610]

Hi Ladies, as above have many of you opted for the combined screening (blood tests) for Downes, Edwards & Patau Syrndrone? It was offered at my hospital. No risks like amniosinthesis. Got the results back in a week & thankfully I'm low risk. Another little milestone. Xxx

 

[lilcurly]

I did and the only reason was to make sure I knew what I was dealing with. I wanted to make sure I am prepared came back as low risk. My mum said if they had those tests when she had us three, she would have definitely had it done too xxxx

 

[clarew]

Just got my results back , low risk and it's a boy. Glad I paid for it x

 

[mummywanabe]

We didn't do the tests first time round, but I might this time as we already have a son to try and be more prepared for whatever might come our way, no matter the outcome we love our little pea

 

[clarew]

It is a lot of money to pay out if it's just the gender you want from the test . £400 it cost me. But I was soooo convinced this baby had downs that I just needed to get this test done . What a relief now !

 

[CharlieSmartie]

I assume you mean NIPT - ie Harmony test? (There are other companies too).

We had the NHS screening which showed 1 in 5 risk, so we opted for the Harmony test, got confirmed high risk of chromosomal abnormality so went on to have an Amnio, unfortunately an abnormality was confirmed in our situation.

We are now pregnant again, have already paid for the Harmony test privately early so that we know before we get to the NHS scan at 13 weeks.

 

[scn]

I opted out of NHS screening and went straight for harmony test as I've lost a boy before due to chromosomal abnormality. So glad I was fortunate enough to be able to afford it, it cost us £600.

 

[louise2610]

No ladies what I referred to was free by our NHS hospital. It's called combined screening. I'm aware of harmony & was going to have it done if the NHS screening came back as high risk. It's pretty new & from what I've read isn't available everywhere as of yet.

 

[scn]

The combined NHS screening is pretty standard throughout. It's called combined because it combines the results from NT measurement, mothers age, and HCG and PAPP-A in the blood.
What's the difference from that to what your hospital classes as combined screening?

 

[louise2610]

It checks for 3 specific chromosome defects. Downes Syndrome, Edwards & Pattau.

 

[CharlieSmartie]

The NHS combined screening has been pretty routine in our hospital for a number of years, they have extended t to cover the extra syndromes over the last year I think.

We had that anyway at the 12 week scan. But it only calculates your risk as per the previous poster scn has explained. I have known some low risks to be wrong, a friend of mine was given low risk result and went on to have a baby with Down's. I've also known high risk results to be proven all clear via a cvs or Amnio.

I think some of the posters on the thread have got confuddled! The NIPT goes further, actually testing the genetic makeup of the DNA and identifying any chromosome abnormalities identified in the DNA. But still only provides a risk score (though 99% accurate). It can also tell you the babies sex. This you have to pay for.