Autism and family history test before birth

Eugenics would be if the test was compelled upon pregnant women, with a forced outcome

Not necessarily — it's the overarching intent that defines eugenics as a philosophy/pseudoscience/practice, not the specific means, though in practice it would generally need to involve some kind of systematic implementation.

(And tho I disagree with ntmdino on right to terminate, I agree that terminating for Down's would be difficult to fit in a classical eugenic framework. But it's clearly part of the same ethical landscape, and in practice, many real-world systems of "eugenics" have tended not to actually give much of a shit about restricting their victims to people who could pass on "undesirable" traits.)

You could have policies that systematically drive low-income disabled people to penury and death and it not be eugenics, as long as it's not about "improving" the human stock, but instead just the belief that we're not worth what we might cost in benefits. Or you could have an actual system of eugenics that might look almost okay on the surface/at first glance — you could plan and carry it out through positive incentives and selective extra support for some, offers of contraceptive help and encouragement to use it for others, with no overt coercion or compulsion, and it would still be a form of eugenics, if the aim was to influence reproductive behaviour towards the goal of "improving" the human population genetically, however slowly.

That definition of eugenics is why I don't believe it's anything to do with eugenics if a woman were to choose TFMR. Even when her society creates conditions that may affect her decision (like availability of medical or financial support, respite, appropriate education, etc.), if the conditions aren't the result of a deliberate plan to genetically "improve" the population, it's not eugenics. Unnecessarily bringing eugenics and all its horrific baggage into someone's deeply personal decision is as irrelevant as it is cruel and disgusting, IMO.

If she lived in a society where her choice might be affected by similar outside factors AND those outside factors had been deliberately designed to try and influence her choices, towards a goal of "improving" overall human genetic "quality", then I'd consider that eugenics on the part of the system (NOT the woman), even if the woman made her choice in exactly the same way as a woman living in a system with the same outside factors but where they're the result of a shitty, callous system. I completely agree with this: a woman, using that knowledge, exercising her legal right to choose to terminate a pregnancy for whatever reason she damn well pleases - not even close to eugenics. A woman choosing TFMR actually can't be eugenics IMO. Even if her choices were to be influenced by conditions created by a system with eugenic goals — and even if the idea of passing down a genetic condition enters into her decision-making — she as an individual can't be carrying out eugenics. She isn't making decisions about a population, but about her foetus, herself, her family.

Essentially, I agree with you on everything else, but IMO it's potentially dangerous to confine the definition of eugenics to forcible testing, termination, sterilisation, because there are potentially more insidious ways eugenic intent can manifest.

Still no.
Eugenics would be if the test was compelled upon pregnant women, with a forced outcome (termination) dependant on results.
Testing for Down syndrome or autism on a individual basis (BTW, as I said before, not convinced by this test to start with so in this sense purely hypothetical) and a woman, using that knowledge, exercising her legal right to choose to terminate a pregnancy for whatever reason she damn well pleases - not even close to eugenics.
But we’ll never agree as you statement above clearly identifies you as someone who does not agree with a woman’s right to choose in the first place.

The downs syndrome test is very unreliable. I know someone who was told her baby had DS and he's a perfectly healthy normal boy.

OK, let me put it another way - with Down Syndrome, the pre-natal test gives a pretty good indication of the likely outcomes for the individual, ie the nature of the disorder. For autism, there's such a massive array of possibilities, ranging from "will never be able to meaningfully interact with the world" to "long, full and NT-equivalent life with the right early years support", that no known test can ever give any useful information for the parents to use to make a decision.

To be clear before the next part: I don't think I'd support termination in either case, personally.

However, another thing to consider is what "eugenics" means - at its core, it's the manipulation of the population's genetic quality (for any given definition of "quality"). Individuals with Down Syndrome are, statistically-speaking, unlikely to reproduce - it's extremely rare, at least - so, as cold and heartless as it may seem, that would not be termed "eugenics" at all because there's an overwhelming likelihood they're already out of the gene pool at conception.

The same cannot be said for autistic people, who do reproduce at nearly the same rate as standard-issue humans.

As I said, though, I don't think "this isn't the child I ordered" is a good enough reason for termination unless there's zero chance of survival past childhood.

Quality of life is something that is mainly judged by the individual, no? I suspect many, many people with Down syndrome, despite the challenges live happy, fulfilled lives - for them. Many, many people with autism have ongoing difficulties that impact their quality of life substantially.
To be clear, this test sounds at best, very early research and as such I certainly wouldn’t be placing any faith in it. But I think you need to examine why you would be comfortable with a parent having a termination for one diagnosis and not others. If one is eugenics, by your logic, surely both are.

This sounds very disturbing in so many ways, you're right to be suspicious of a HCP who spouts nonsense like this. The unethical private 'treatments' I've seen parents sign upto are questionable and playing on people's lack of understanding of autism.

Runs in my family. My niece is the most good natured, intelligent, beautiful souled person you could imagine. Never had an unkind thought about anyone. These tests are bogus.

The friend can't be too bright either if she's 'reassured' by strangers on Mumsnet.
There are Facebook groups for everything these days, I'm sure she can find some people in the same healthcare system, or info online about that specific test.

The OP has also been a bit sneaky. The thread title and majority of posts are about autism but it's not just that! It's 2 tests one for autism and another for 'hereditary diseases'. The detail is important here, what tests are these exactly, what's the prevailing clinical advice on them being offered, what percentage of new parents have them etc etc.

The OP, in her infinite wisdom as a layperson, has decided that because the friend has 'no family with hereditary diseases' she is being scammed into unnecessary testing by an unethical medical professional. Are you aware that some diseases can be dormant for several generations OP?

If you are concerned about the friend get off Mumsnet and go do some real research. Or get friend to do it. Or get a second opinion from an actual medical professional.

But I don't think this is supposed to reassure anyone and if you've talked her out of something that's standard procedure in that country and advised by their governing bodies based on a lot of hot air you're going to be in big trouble if anything happens later.

Yep my son had 16p13.11 micro deletion
Which is bought to eat be underlying cause of his autism but not everyone with the same or similar deletions have autism and it varies massively how the deletion affects peop!e.

Put simply, quality of life - which should be the only question involved in pre-natal tests.

Even the most accurate genetic testing for autism (which are basically a slightly-narrowed-down guess) have absolutely zero indication of the nature of the child's potential autism. 70% of autistic people do not have high support needs, and can live independently with minimal support (if any) and quality of life nearly equivalent to that of non-autistic folk.

Contrast that with Down Syndrome - life expectancy at least 25% shorter than average, less than 20% of individuals living independently, most still with support of some kind and with significantly reduced quality of life relative to the general population.

(these figures are based on what I could find in five minutes of searching for rough consensus - they feel like they're in the right ballpark, but probably aren't completely accurate)

Its a massive spectrum
My 13_year-old is severely autistic non verbal will never live independently etc etc I adore him but its hard work ,really hard work.

I find it interesting that the doctor conducting the research said it could be used to ensure babies get ‘early treatment’ for ASD.
What does this ‘early treatment’ look like I wonder???

That 'research' is making very dangerous leaps.

It would be a TFMR, just like for other conditions. Very interesting research thanks for sharing.

I'm glad this wasn't a thing 27 years ago, I quite like being alive.

No, and they’re not going to unless she actually says what it is. What’s the point of her getting “very stressed” and sending a friend off to post vague info on a website that’s primarily not populated by people in the same health system?

For all we know, this “DNA” test is the very commonly offered NHS blood test for Down’s, Edward’s and Patau’s.

I don’t understand why you’re worried that her anxiety is being exploited just because she has to pay, when paying is a standard part of her country’s healthcare system.

Nobody here can tell you whether her doctor is making money with pointless tests, if you haven’t even asked her exactly what the suggested test is. If it’s the combined test I mentioned above, it’s a personal choice but it’s not exploiting anxiety to offer it.

Yeah, that's no diagnostic use to anyone.

For anyone who's wondering why I think it's pretty pointless for predictions, then I'm thinking of it like this:

Say you had 100 random pregnant women, carrying 100 foetuses. Autism rate estimates vary, but I've seen 1 in 36 floating about. To make the numbers easy I'll assume that on average 3 out of the 100 foetuses will later turn out to be diagnosable with ASD.

If 30% of foetuses which later turn out to be autistic have these anomalies, then chances are that about 1 out of these 3 pre-autistic foetuses will have the anomalies.

In non-autistic foetuses the anomaly rate is about a third of that, so it must be about 10%. 10% of 97 foetuses means about 10 non-autistic foetuses also have these anomalies.

So out of these 100 foetuses, 11 have anomalies.

1 will later be diagnosable with ASD.

10 will not.

2 pre-autistic foetuses will go un-identified.

So there's 10 sets of parents made to worry about autism unnecessarily, and 2 sets of parents falsely reassured, for every 1 correctly-identified pre-autistic foetus. Or, to put it a different way, a positive result (anomalies) means your foetus's likelihood of autism has gone up from about 3% to roughly 9%, whereas a negative result (no anomalies) means the likelihood has gone from about 3% to just over 2%.

I used a generous estimate of 1 in 33 for autism prevalence, but if you run the numbers again with a smaller likelihood of autism, the test gets even more useless for diagnostic or predictive purposes. There aren't any useful prenatal tests for autism that I know of, and this anomaly thing doesn't seem any better.

I think I have the maths vaguely right on this one, but happy to hear any corrections on it — I'm just going by stuff I picked up when we were all trying to learn about sensitivity, specificity, prevalence, and COVID tests a couple of years back 😅

This would be different to pre natal testing for Down’s syndrome how, exactly?

if you could diagnose it with a blood test, people wouldn't be year stuck on waiting lists for ASD assessments but would pop down to the phlebology department to get their bloods taken.

there are various DNA tests to look for all sorts of things. There is no one DNA test.

Most genetic abnormalities are detected by microarray testing but these are not usually done in pregnancy. They can take over a year to bring results (it looks into detail into all the genes searching for missing or extra generic material - it's very different from a standard blood test). They are expensive and usually only done for diagnostic purposes, not antenatal screening. Plus, a test which takes months and months to bring results isn't feasible for a pregnancy which in many cases would be over before results are ready. Why doesn't your friend know what tests she is having? she can always decline. but you absolutely cannot diagnose autism in utero!

There are some pre-natal screening tests, but I would be very wary of anything that doctor is trying to sell, and go ask a reputable doctor if they think any particular tests are indicated.

The blood tests most widely available are screening tests which can use a sample of a pregnant woman's blood. Some measure levels of several different hormones and can compare those hormonal patterns to known patterns associated with higher or lower risks of some serious genetic health conditions. Some look at the small amounts of foetal DNA present in the woman's blood sample and can give an assessment from that of the likelihood of some genetic conditions.

These are non-invasive screening tests, so can only give an estimate of whether there's a risk/likelihood. Some give a number (eg. '1 in 300' pregnant woman with a particular pattern of blood results may find that the pregnancy is affected by a particular condition) while others give risk as either high or low.

That information can then be used to help decide if a woman wants to have more invasive diagnostic testing.

There is no genetic test for autism the dr is a quack end of

There is no reliable pre-natal test for autism. If anyone is trying to sell one, be very wary of them.

Detailed genetic testing may highlight the presence or absence of certain genetic factors which may be associated with autism and other conditions, but their positive predictive value and negative predictive value are both quite low.

She may want to find a new doctor.

Not only is there no reliable test for autism, if there were then this would be the very definition of eugenics, FFS.