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.

There is no DNA test for autism. It’s thought that it’s a mixture of the right genes and environmental triggers.

Luck of the draw.

I never knew there was a test because it's epigenetic right?
My son has autism. Perhaps his father has it (to a similar degree, but they're different).

What country is offering the test? And is everybody offered it? Have they said what would come next? I mean, you can't cure it. There are so many degrees of autism. Can they distinguish the degree achild would be affected in a test??? I really didn't think so. Its interesting, but I'm sceptical as to the point of the test.

There is absolutely no way to test for autism before birth, or even in the 3 years after birth. It’s a diagnosis which can only be made following taking a developmental history and assessing the child’s behaviour.

There are genetic tests for various other conditions but in the UK we only test for those if there is a family history. The NHS has its faults but is pretty good at working out what tests are sensible/proportionate/cost effective.

I’d really look for a second opinion, this doctor sounds like he’s pushing for unnecessary tests without a solid basis.

No test exists pre birth for autism.

Also, my wonderful, intelligent, brilliant son has autism. Is this doctor suggesting I shouldn't have gone ahead with the pregnancy if the (non existent) test showed he might have autism?

I was interested so did a quick Google

https://www.autismparentingmagazine.com/prenatal-test-autism/#:~:text=Prenatal%20genetic%20testing%20for%20autism,like%20the%20US%20and%20Taiwan.

A routine prenatal ultrasound in the second trimester can identify early signs of Autism Spectrum Disorder (ASD), a new study by Ben-Gurion University of the Negev and Soroka Medical Center has found.
https://www.sciencedaily.com/releases/2022/02/220209112107.htm

Gosh that research is truly heart breaking

My 17 year old dd is ASD. She’s gorgeous and amazing and fantastic and awesome.

This thread is making me feel sick

What "treatment " for autism could be offered from birth?

I am not a medic or a statistician, but I wonder whether the problems that were picked up were the sort of health problems that often accompany serious levels of LD or ID? I'd be interested to know how severely autistic the children identified by this research turned out to be. Also, what proportion of those foetuses with internal organ abnormalities did NOT go on to be autistic?

I guess if your friend has good insurance and the tests aren't costing her directly, then it's up to her. I wouldn't be bothering myself, though.

30% had signs, 3x higher than those that didn’t so 10% had the same signs and didn’t go on to be diagnosed autistic? Or am I misunderstanding (had a glass of wine!). That doesn’t seem like it would or wouldn’t help diagnose pre-birth.

There definitely isn't an all out autism test, there are however known genomes in dna that if partially deleted or missing are known to cause a high instance of autism in those individuals. However its still very much a wait and see if asd Is present after birth. I know this as my daughter has a deletion on a chromosome (15q 11.2) and in her it is the cause of her autism among other learning disabilities. This is never a routine test and even though I carry it was not something we could test on my 3rd pregnancy we just had to prepare for another child like my middle and decide whether we could give enough support, we decided we could and have our 3rd daughter who is only now undergoing the chromosome testing because she is showing symptoms and delays.

Why do you think your friend would be reassured by information from a bunch of internet strangers, who could claim to be anything? You're better off asking her to seek a second opinion or Googling the exact test from reputable sites/seeing if anyone else has had it done.

@PonyPatter44 I'm also wondering about that. It would be very useful it if could detect severe autism. Especially for people who (like DH and myself) have a family history of neurodiversity.

There is no pre-birth autism genetic test. There is a huge number of micro deletions which can cause autism but these are usually only diagnosed as a diagnostic test via microarray testing. This is not available as pre-natal screening and microarray testing takes many months to bring results (ours came back quickly after 6 months). It often takes much longer and therefore it isn't suitable for antenatal tests.

Surely it's the parent's choice? Same as tests for Down's Syndrome.
The irony is that autism (and other forms of neurodiversity) can be hereditary. But autistic people depending on the severity and type of their presentation can be one of the least able to cope with having autistic children themselves. Or one of the best! The symptoms can be so diametrically opposed or a completely complementary.
Someone who stims loudly would set off someone with misophonia. Similarly a sensory-loving constant hug seeking child would be hell on Earth for an autistic parent who hates being touched.
Of course if both parents and children are identical they 'get' each other.

You don't know which it will be.

They found anomalies in the heart, kidneys, and head in 30% of fetuses who later developed ASD, a three times higher rate than was found in typically developing fetuses from the general population

There's a long way to go before this can be used to reliably diagnose autism!

If both parents have asd and are older etc or already have asd child even with a asd blood test it may be an autistic child or no child as even aborting, the next baby may be affected. It woulsnt necessarily be like downs where unless the mum is high 40s its generally much more likely to have an unaffected child next time.

It might be more useful to post what country it is. There are posters from around the world here, and those who have lived in multiple countries. They may be more aware of the specific tests that tend to be offered - which would help you make sense of a test that you are not sure can exist.

There are tests for known genetic disorders like Fragile X and Cornelia de Lange syndrome which are linked to autism. There is no test just for autism because autism probably has more than 100 different genetic causes and we don't know what they all are.

With any genetic test, if it says there is a risk of a disorder, the option is abortion. If your friend wouldn't consider a termination, then there is no point in having the tests done.

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

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.

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

Thanks for the replies, will be showing to her. Does anyone know about the other test to check DNA?

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 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!

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.

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