Non-invasive prenatal testing to be offered on the NHS

[TheMshipIsBack]

On the BBC website. I had this done privately and found it very reassuring. It's not clear from this article if all women will be offered NIPT or only those with high risk of trisomies from the nuchal scan.

Risk of greater than 1:150, apparently. I am extremely conflicted about this, especially as the accuracy in detecting Patau's and Edwards' has not been established.

More info here www.stgeorges.nhs.uk/newsitem/safer-test-shorter-wait-as-new-downs-screening-comes-to-st-georges/

So does the test actually show a yes/no to Downs syndrome?

(In which case why still offer the amnio?)

Or is it a "risk" predictor?

I didn't have the blood test (triple test?) when I was pregnant 21yrs ago as I knew that there was no way I would have an amnio.

Sorry, just read the link from Ave which I had somehow overlooked!

Under
In the link that Ave posted, the hospital is claiming 'over 99%' for all three trisomies

The only downside I can see is the potential loss of skills from doing amnios and CVSs. The miscarriage risk quoted for both procedures is very misleading and inaccurate, and the actual risk is very much dependent on the skill of the consultant doing it.
The doc who did mine was required to tell me there was a 1% risk, but then told me afterwards that she wasn't aware of anyone having miscarried after she had done an amnio, and as the head of a fetal medicine unit in a busy London hospital, I suspect she has done several hundred.

Of course it isn't for women to undergo potentially unnecessary procedures in order to keep doctors skill levels up, but that is the only real downside I can see.

Its a screening test. "The test will help expectant mothers to understand the risk of their unborn baby having...". It means that "fewer pregnant women will undergo unnecessary invasive procedures such as amniocentesis and chorionic villus sampling (CVS)". It doesn't replace the amnio/CVS diagnostic tests.

I think it is wonderful that the NHS have decided to offer this. I had the test done privately but at >£500 it was a lot of money so wouldn't be an option for everyone. At 42 the NHS would have referred me routinely for an amnio. I was glad to avoid the risks associated with invasive testing. If the blood test gives a positive for abnormality then an amnio/CVS is recommended to confirm.

Its a screening test. "The test will help expectant mothers to understand the risk of their unborn baby having...". It means that "fewer pregnant women will undergo unnecessary invasive procedures such as amniocentesis and chorionic villus sampling (CVS)". It doesn't replace the amnio/CVS diagnostic tests.

It will essentially replace the amnio/CVS for most cases, won't it, in that it makes it largely unnecessary? (Assuming this is the Harmony/Materniti21 blood test which analyses DNA from maternal blood.)

You used to get an initial, very inconclusive risk factor calculated from the 12-week scan's soft markers, your age, and hormone-related blood tests -- and have to decide, from that, whether to have the invasive testing with a potential miscarriage risk. Now the Harmony will be the logical next step, instead. I'm sure some women will still choose to go on for the amnio, but Harmony has accurate enough results (at least for trisonomy 21) that most will probably stop there and not feel the need for further tests.

I had a 1:150 risk for trisonomy 21 (Downs) which is technically high risk, but since the overwhelming odds were still that it wasn't Downs, I would've felt really conflicted about any test with a miscarriage risk. Very glad to have the Harmony available. It did effectively replace amnio/CVS for me.

I had this privately and found it very reassuring also.

it's "reassuring" with 99% accuracy for the three most common trisomy conditions present at birth, which are Down Syndrome, Edwards Syndrome and Patau Syndrome ...and sex chromosome abnormalities.

it would have helped my 42-year old next door neighbor who lost a baby following amnio - tests on the fetus after showed a "normal" baby. so this would been helpful to her.

however it does not rule out other chromosomal abnormalities or other conditions which are rarer but may be similar to or more severe than down syndrome. though I believe from reading it can also check for Chromosomes 22, 16, and select chromosomal regions including 22q, 15q, 11q, 8q, 5p, 4p, and 1p are also available for analysis.
eg laboratories.sequenom.com/patients/maternit21-plus/

also limitations - While the results of the MaterniT21 PLUS test are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to: placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis.

and as above, cvs/amnio wont rule out some other conditions..my ds has normal chromosomes as per routine testing but actually has a microdeletion syndrome causing many issues.....another friend had all tests possible including amnio but baby was born with unknown (ie genetic tests didnt show anything) neurological disorder and died age 13 months.

I think it is a good thing, to be able to avoid amnio unnecessarily, whter needing to know to prepare or to make different decisions, but it wont provide all the answers, all the time.

Down Syndrome, Edwards Syndrome and Patau Syndrome are not the only conditions out there.

With DD2 I had a risk ratio of 1:10. I was devastated, particularly as DD1 had been stillborn 6 months previously and I was petrified for the entire pregnancy anyway. I chose to have the amnio, and luckily DD was fine. It was a particularly horrible episode in what had already been an incredibly emotionally fraught pregnancy. If a blood test could have ruled out Down's etc without putting me through the stress of a) the ratio and the way I was notified, which was very poorly handled, b) the amnio itself and c) the fear that I would miscarry afterwards, I would have leapt at it. (I didn't know this was an option at all - this was 2011 so it was probably out there, I had just never heard of it.) I think this is a great step forward.

I wish this had been available when I was pregnant. I have a chromosome translocation which carries a high risk of trisomy 22; Emanuel syndrome. It was rare enough that no-one had heard of it, testing for it took forever and enduring an amnio and 3 attempts at a CVS was horrible.

I think that this is great however as a mum of a little girl with Down Syndrome it does make me fearful that more pregnancies will be terminated. I respect it is everyone's right and had this test been available in 2011 when I was pregnant I would have jumped at it and no doubt terminated. I was deemed high risk with a 1: 148 chance of having an affected baby. I opted for an amino that failed as they couldn't get the fluid out so given my odds being not horrific I just left it. Thank god that happened as I wouldn't have my gorgeous girl now. She definitely wouldn't be here had I had this test available as it would be easier to terminate. The doctors are so negative about DS as was I but I realise that nowadays these children have a very good chance of a long fulfilling life, my eyes have been so opened. I don't want to offend anyone and do appreciate everyone has to make the right choice for their family but just wanted to show another side of how medical advancements can effectively make it easier to end lives whilst other medical advancements means that these conditions are not what they once were.

I think it's great if it means that more invasive methods of testing can be avoided for some if not most women, being high risk is stressful enough without adding the risk of miscarriage.

I appreciate that with potentially more women finding out their child carries a trisomy condition that more may choose to terminate the pregnancy . It's a choice that women are entitled to, one which I'm sure is not taken lightly and not something that can be used as a justification for keeping people in them in the dark.

I think it's great that it's being made available on the NHS but it's a shame that it's effectively just one London hospital rather than a nationwide roll out unless you can pay for it - it's only free if you are high risk and referred to St Georges, otherwise you pay. I'm 6 weeks at the moment and will probably pay the £399 it is locally to get it done privately rather than an amnio if I'm high risk (unless St Georges are accepting paid tests from other NHS hospitals by then when it will be quicker - if not cheaper).

Is this the Harmony test?

It is a similar test to the Harmony

Im All for it - I had the panorama nipt test done (similar to harmony, looks at more loci.)

It's technically still a screening test, not diagnostic. I was very anxious during early pregnancy and this really made a difference. Also I'm a geneticist by training so thought it was pretty cool ;)

Ang69, that's exactly how I feel. My DS1 also has Downs and as far as I'm concerned he's bloody perfect. The odds of him having it according to the 12 week tests were 1:1600! If I fell pregnant again I would have the NIPT but certainly wouldn't terminate now that I know Downs is nothing to be scared of. The negativity and assumptions among HCPs is a huge problem and I have written to the Royal College of Obstetriciand and Gynaecologists about this.

Fellow mum with a child with Down's. I agree this just makes it seem even more that it's something dreadful to be feared and eradicated. Even on the news it was "new test for Down's" not the other trisomies.

I fear for the world as we try and eliminate all these people who are not "perfect". Will the same happen for autism, aspergers, Alzheimer's, Parkinson's...

Would like to see this test rolled out everywhere to women who want it. Our soft markers gave a low risk, but we'd discussed what would happen if they were high and the amino terrifies me.

WipsGlitter well said

I was interested by something that was said on the BBC the other day about this, that if testing was being rolled out now(only just starting) for downs it would be classed a eugenics and not allowed.
i wonder where this will all end....

Regardless of people's personal choices, there is never, ever a justification for withholding factual information to try to manipulate other people's choices.

I feel the same when hospitals have a policy of withholding sex lest a mother terminate for that reason. None of us have the right to police other people's decisions about their pregnancies, even if those decisions are in conflict with our own decisions about ours.

Either we believe in informed consent, choice and bodily autonomy for women, or we'd prefer to limit the amount of information we divulge to women in case they make disagreeable decisions about their bodies and lives.

That's interesting Sam, how would it not be allowed? We do embryo selection for IVF and use it to avoid certain conditions. I thought that socially we did lots of eugenics but they ethical issue was coercion and education.

I think that this is great however as a mum of a little girl with Down Syndrome it does make me fearful that more pregnancies will be terminated.
That is perfectly fine if that is what the parents wish to do and is not really your place to comment on it. I presume you are anti-abortion.
I had a TFMR where my DD would have suffered until her very early death. I promote knowledge and don't understand why women would want to withhold information from mothers that could save them heartache and their babies pain.