Autism and family history test before birth

[wherearemywellingtons]

Hello! Looking for reassurance/advice.

I’m British but living and working abroad and my friend (native to the country I’m working in) is having a baby. She’s very stressed because she has been advised to have a (pre birth) autism test and a (pre birth) DNA/family history test for diagnosing hereditary diseases. I’m very skeptical because she knows her family and isn’t adopted and they have no known hereditary illnesses - she knows her parents, cousins, aunties, grandparents etc and they have no hereditary illnesses so I am worried that the doctor is exploiting her anxieties and making her pay for an unnecessary test (where we live, all health care is paid for so of course these tests will be paid for by her). I’m also very skeptical, having an autistic brother, that there is a pre-birth autism test that can be conducted and even if it could - why? She doesn’t necessarily feel it’s necessary but is worried having being told by the doctor that she should have this.

I am writing this thread to show her the answers and ease her anxiety about not needing them/maybe finding a different doctor as I’m concerned about the morals of this one, so please be kind and informative.

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 😅

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.

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

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

That 'research' is making very dangerous leaps.

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???

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.

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)

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.

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.

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.

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.

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.

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.

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.

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.

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.

Sorry, I've realised how long that was. My medications make me so bloody wordy 😖 Hope the gist is there, anyway.

And I don't mean "classical", do I? My head is struggling to find the right words tonight. It took me a good minute to work out that the word I needed was "influence", at one point. I'd better go and sleep and stop inflicting myself on innocent people 🤨😒

No, you’re right, I was being too reductive above about how it could manifest. I think we are clearly on the same page.
I tend not to be as articulate or thought through as I’d like when people draw comparisons between women having a legal medical procedure and Nazi policy.

The condition my daughter had will be accompanied with various levels of Autistic Spectrum tendencies and can cause significant distress in many of the children who have are experiencing the more medically complex aspects of brain anatomy that have not been created during conception, the size and shape and ability of brain structures and the endocrine system and how it functions. As in our case and a few others we know of, unless it is severe at birth the challenge was knowing if she was producing enough to not cause problems
But the condition isn’t seen until after the true sight had developed as the first thing we noticed was her lack of vision

Two days later she had dangerously altered chemical processes within her body. She had been compensating and had made strange patterns in the endocrine systems that suddenly became a huge snowball of problems as she began to crash
if the sight situation had not been the obvious sign then she would never have survived
the lag of optic nerves instantly pointing to one condition

The asd diagnosis was also expected

They explained that a child is born with it and many have trouble with gastric problems and sickness and if I had been given the diagnosis that it was there that would have helped Horowitz manage as she was unable to cope with milk

also early help with developmental milestones is hugely beneficial in children with ASD

IIs the person having to have the genetic and heridatary factors done due because certain cultures have a higher risk of developing genetic problems that can lead to serious complications in children.

I had read that Ashkenazi Jews and Jews from that region have some genetic compatibility tests first?
I only heard of this when it was apparent that there was problems in our family
I developed Crohns a while ago, this has developed into more autoimmune conditions, Them my Dads two younger sisters - he was oldest of 9. So my aunts were 5 and 6 years older than me so we’re all close. They both separately 4 years after me, but slightly different presentation were diagnosed as having Crohn’s, the youngest had also been diagnosed with Arthritis and had been diagnosed as primary problem of diabetes,
I have now also started to follow their own disease path.

Due to the complexity of the disease and that we struggle to find treatments. Within 6months we all had separately received letters from a new hospital that had been sent referrals as they were part of most of research
We each had a different doctor, so we all went together for each person

That is when it had been mentioned that the solid link they knew of was from that specific area.

we are waiting for some more tests

But in the past and people who have decent connections are tested before dating

is that what happens happens in this case

Medical advances that detect serious issues have made a huge possitive difference to many people. The fact that more will become mainstream is to be expected and celebrated.

I have no idea about any of these new tests and suggest that your friend should get a second medical opinion until she fully understands the benefits (or not) of any tests that are being promoted.

I believe there was a great deal of opposition to the Spectrum 10K project, which would collect DNA from 10K autistic people for research, because there was a lack of clarity about what exactly would or could be done with the DNA. One of the arguments was that a test could be developed that may 'indicate' autism in a foetus, and the parent could then be offered the option of terminating the pregnancy (similar to the test for Down's syndrome). Irrespective of any argument, when we talk about selective viability, we are talking about eugenics.

There is a strong familial history of neurodiversity in my family, this includes autism of Level 3. This history means that we know how to access early support, and there is a ready made informal network of people who are experts by experience. One or two of my family members made a decision not to have children. But this was a very personal decision, made on the basis of their own support needs and their own preferences.

There is, at present, no genetic test for autism and I hope there never will be.

@HelenTudorFisk

Whoa there - I don't disagree with a woman's right to choose, quite the opposite. I was talking about it from a personal standpoint; that's all. My wording could probably have been better.

Also, I made no reference to Nazi policy at all; eugenics is not exclusive to them in the developed world. The US, UK, France, Sweden...all had official eugenics policies at various points during the 20th century (under most of which I would never have been born), all the way up to the mid-70s in some cases.

In Sweden, for example, it was couched as a choice in a lot of cases - it was a condition for release from mental institutions (among other things).

‘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.’
Sounds a lot like disagreeing with a woman’s right to choose to me, @ntmdino .