NIPT testing

[mustardpumpkin]

I wonder if anyone might be able to explain things re: NIPT testing please? The NHS website claims that they carry out several rounds of screening, including a blood test to find out the likelihood of various genetic disorders. Is this the same as the NIPT blood test you can have privately, or are they different things? Unfortunately most of the information online is either several years old or marketing material and I'd like to be able to make an informed choice.

I did find several articles dated from around 2016 which said that the private NIPT blood test was becoming available on the NHS in the next year or so which is why I wonder whether that's the blood test they refer to on the website.

Thanks.

Nipty looks directly a fetal dna from your blood sample. So they are directly looking at the chromosomes to detect downs etc. It is 99.9% accurate.
Nhs testing is nuchal translucency (scan of the babies neck) plus blood tests which look at certain hormone levels to give you an estimation of risk.
In some places if you have a high risk NHS screening they will then do a NIPTY on the nhs.

My understanding is that the standard NHS blood test looks at the level of certain hormones (specifically Papp-A and HCG) to factor into their calculation of your risk for downs, Edwards and Pataus.

Generally if your hormones and other factors suggest you have a high risk they'll offer an invasive test like amnio or cvs to check the genetics. I'm sure I read that some trusts were adding in the NIPT as well/instead of amnio and cvs - so not everyone would get it, only if your initial blood test and other factors suggested a higher risk.

That's really helpful - thanks both!

NIPT is not a diagnostic test so you would need a CVS/ amnio if you showed up as high risk to confirm the result. I think BUPA has a fairly good fact page and this page gives you the statistics for how accurate the test is for each of the trisomies it tests for. northsurreymidwives.co.uk/what-we-do/antenatal-screening/harmony/

NHS wise, If you fall into a high risk category, you can have NIPT done by the NHS otherwise you’ll be offered the Nuchal test which involves a blood tests plus the Nuchal fold measurement the 12 weeks (ish) scan. They combine these results and then give you a risk factor. If you fall into a high risk category you’ll need an amnio/ CVS should you wish to get definitive results.

In my experience (welsh NHS) if you agree to screening they will carry out the traditional style testing at your 12 week ultrasound. This is a combination of NT measurements and a blood test for HCG and PappA. They combine these results together to give you a risk rating. Mine for example were NT 1.5mm and the blood results gave me a low risk rating of

DS - 1 in 2900
Edwards and patau - 1 in 48,000

If I had come back high risk for either of these (not 100% sure of the numbers and I believe trusts differ) but around 1in 150 for both/either - the next step is NIPT test through the NHS, from there - dependant on the results you can opt for the CVS or amniocentesis.

I'm an older mum so my my risk rating was naturally higher to begin with, we toyed with the idea of paying privately for NIPT. You can then opt out of NHS screening. It's around £400 but can be done around 10 weeks - so would have found out the results a lot earlier than on the NHS. However we decided against it.

Hope this helps!

Again, thank you - that's all really helpful and I appreciate you taking the time to answer.