Autism Tests

In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

Azeen Ghorayshi at NYT:

Academic research labs across the country are working to find biological markers that can predict whether a child is at risk of developing autism. And companies are rushing to turn the findings into commercial tests, despite limited evidence to back their validity, raising concerns that their results could mislead desperate parents.

They include one test that examines a strand of hair to rule out an autism diagnosis in babies as young as one month old. Two other tests just entered the market. One promises to predict autism risk based on skin cells collected as early as days after birth. Another looks for the presence of certain antibodies in a mother’s blood to determine whether her children, or babies that she might have in the future, are at risk of developing autism.

All the tests are based on autism research by scientists at academic institutions... But the new tests, largely aimed as a screening tool for the general population, are not yet reliable enough to be offered commercially, outside scientists familiar with the tests say, especially in a landscape where families are already inundated with incorrect or unverified information about autism. None of the tests has gone through large experimental trials or had its validity evaluated by a regulatory agency.

...

The new antibody test, which is based on the work of Judy Van de Water, an immunologist at the University of California, Davis, has perhaps the most research behind it of any of the measures.

The test looks for specific antibodies, known as autoantibodies, that mistakenly attack normal cells in a person’s body as if they posed a threat. Dr. Van de Water’s research group has identified eight autoantibodies that cross the placenta during pregnancy and can target proteins involved in fetal brain development.

...

Michael Paul, chief executive of MARAbio, the company selling the new antibody test, said that Dr. Van de Water’s research was based on “a very, very robust data set.”

“I would feel unethical to not bring it forward,” Dr. Paul said, “because we believe this is a test that families should have.”

Dr. Paul said the company hopes to limit the number of false positives by making clear to doctors and patients that the test is not intended as a screening tool for the general population. Instead, the company is marketing the test only to women who already have a child with an autism diagnosis and are deciding whether to have more children, or those who have a child who is exhibiting clinical signs of the disorder. The company is currently validating the test for use in the general population, Dr. Van de Water, who also is the founder of MARAbio, said.

The risk of false positives is also one reason the company is not yet making the test available to pregnant women — a group that Dr. Van de Water said has been asking her for a test like this for years. But the restriction, she added, also allowed the company to sidestep thorny debates about abortion and autism.

“We do not want to go there. And we don’t have to,” Dr. Van de Water added, noting that, unlike common prenatal tests that rely on detecting fetal cells, the antibody test needs only a sample of the mother’s blood on which to base predictions.

Controversy Over a DNA Study

In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

Liam O'Dell at The Independent:

Autistic advocates have expressed concerns over a University of Cambridge study, over fears that the research into “genetic and environmental factors that contribute to the wellbeing of autistic individuals and their families” amounts to “eugenics”.

Branded “the largest study of autism in the UK”, Spectrum 10K – which also involves researchers from the Wellcome Sanger Institute and the University of California Los Angeles (UCLA) – looks to collect questionnaire responses and DNA samples from 10,000 autistic people.

Professor Simon Baron-Cohen, director of Cambridge’s Autism Research Centre and project leader, said there is an “urgent need” to “better understand” the needs of autistic people.

...

However, while the team behind Spectrum 10K repeatedly insist that they are “not searching for a cure” for the condition and that they are “ethically opposed to any form of eugenics”, concerns have been raised over the security of genetic information and the views of those involved.

Speaking in April 2019, Baron-Cohen told Spectrum News that “there’s no way we can ever say that a future political leader or a scientist won’t use the research for eugenics”.

The "eugenics" fear is that if DNA testing shows that a couple with a high probability of having an autistic child, they will decide not to have children at all.  And more specifically, there is concern that it could lead to selective abortion

Genetic Testing and Autism

In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

Sarah Zhang at The Atlantic:

For those with the money, the possibilities of genetic selection are expanding. The leading edge is preimplantation genetic testing (PGT) of embryos created through in vitro fertilization, which altogether can cost tens of thousands of dollars. Labs now offer testing for a menu of genetic conditions—most of them rare and severe conditions such as Tay-Sachs disease, cystic fibrosis, and phenylketonuria—allowing parents to select healthy embryos for implantation in the womb. Scientists have also started trying to understand more common conditions that are influenced by hundreds or even thousands of genes: diabetes, heart disease, high cholesterol, cancer, and—much more controversially—mental illness and autism. In late 2018, Genomic Prediction, a company in New Jersey, began offering to screen embryos for risk of hundreds of conditions, including schizophrenia and intellectual disability, though it has since quietly backtracked on the latter. The one test customers keep asking for, the company’s chief scientific officer told me, is for autism. The science isn’t there yet, but the demand is.

The politics of prenatal testing for Down syndrome and abortion are currently yoked together by necessity: The only intervention offered for a prenatal test that finds Down syndrome is an abortion. But modern reproduction is opening up more ways for parents to choose what kind of child to have. PGT is one example. Sperm banks, too, now offer detailed donor profiles delineating eye color, hair color, education; they also screen donors for genetic disorders. Several parents have sued sperm banks after discovering that their donor may have undesirable genes, in cases where their children developed conditions such as autism or a degenerative nerve disease. In September, the Georgia Supreme Court ruled that one such case, in which a sperm donor had hidden his history of mental illness, could move forward. The “deceptive trade practices” of a sperm bank that misrepresented its donor-screening process, the court ruled, could “essentially amount to ordinary consumer fraud.”

Prenatal Testing and Abortion

 In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

 In Burlington, NC, Elizabeth Pattman reports at The Times-News:

LabCorp has received a patent on a method for diagnosing autism spectrum disorders.

The method, invented by David Michael Margulies and Mark Firman Bear of Massachusetts, involves taking a tissue or body sample from a subject and then conducting a test to identify variant sequences in the subject’s genetic code, which may signify “the presence or an increased risk of developing autism spectrum disorders.” Testing can be done on children and fetuses, according to the patent.

The method is stated to aid in the diagnosis of five autism spectrum disorders, all of which fall under the umbrella of pervasive developmental disorders: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s disorder, and nonspecific pervasive developmental disorders.

Patent approved for gauging autism risk in fetuses. This makes me nervous. https://t.co/sBgazigZy4

— Steve Silberman (@stevesilberman) January 7, 2018

I tweeted about this yesterday, but to be very clear, this kind of testing (it's certainly not a "diagnosis") lays the groundwork for eugenics, and that's horrifying - and already going on with Down syndrome. https://t.co/sBgazigZy4

— Steve Silberman (@stevesilberman) January 8, 2018

Abortion and Iceland

In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

At CBS, Julian Quinones and Arijeta Lajka report a dramatic drop in Down Syndrome births in Iceland.

Since prenatal screening tests were introduced in Iceland in the early 2000s, the vast majority of women -- close to 100 percent -- who received a positive test for Down syndrome terminated their pregnancy.

While the tests are optional, the government states that all expectant mothers must be informed about availability of screening tests, which reveal the likelihood of a child being born with Down syndrome. Around 80 to 85 percent of pregnant women choose to take the prenatal screening test, according to Landspitali University Hospital in Reykjavik.
...
Using an ultrasound, blood test and the mother's age, the test, called the Combination Test, determines whether the fetus will have a chromosome abnormality, the most common of which results in Down syndrome. Children born with this genetic disorder have distinctive facial issues and a range of developmental issues. Many people born with Down syndrome can live full, healthy lives, with an average lifespan of around 60 years.

Other countries aren't lagging too far behind in Down syndrome termination rates. According to the most recent data available, the United States has an estimated termination rate for Down syndrome of 67 percent (1995-2011); in France it's 77 percent (2015); and Denmark, 98 percent (2015). The law in Iceland permits abortion after 16 weeks if the fetus has a deformity -- and Down syndrome is included in this category.

The story quotes a pregnancy counselor:

"We don't look at abortion as a murder. We look at it as a thing that we ended. We ended a possible life that may have had a huge complication... preventing suffering for the child and for the family. And I think that is more right than seeing it as a murder -- that's so black and white. Life isn't black and white. Life is grey."

Republican Platform on Autism and Disability

In The Politics of Autism, I discuss the issue's role in presidential campaigns.  

GOP Platform:

We reaffirm the Constitution’s fundamental principles: limited government, separation of powers, individual liberty, and the rule of law. We denounce bigotry, racism, anti-Semitism, ethnic prejudice, and religious intolerance. Therefore, we oppose discrimination based on race, sex, religion, creed, disability, or national origin and support statutes to end such discrimination.
...

We support the appointment of judges who respect traditional family values and the sanctity of innocent human life. We oppose the non-consensual withholding or withdrawal of care or treatment, including food and water, from individuals with disabilities, newborns, the elderly, or the infirm, just as we oppose euthanasia and assisted suicide.

...
We call on Congress to ban sex-selection abortions and abortions based on disabilities --discrimination in its most lethal form. 

..,.  

[The] Workplace Innovation and Opportunity Act — modernizing workforce programs, repealing mandates, and advancing employment for persons with disabilities — is now law. 

... 

American medicine is poised to enter a new era of technological advance. Federal and private investment in basic and applied biomedical research holds enormous promise, especially with diseases and disorders like autism, Alzheimer’s, and Parkinson’s. 

...  

Under the last two Republican presidents, landmark civil rights legislation affirmed the inherent rights of persons with disabilities. Republicans want to support those rights by guaranteeing access to education and the tools necessary to compete in the mainstream of society. This is not just a moral obligation to our fellow Americans with disabilities. It is our duty to our country’s future to tap this vast pool of talented individuals who want to work and contribute to the common good. For that reason, Republican leadership led to enactment of the ABLE Act (Achieving a Better Life Experience) and the Steve Gleason Act. The former, for the first time, lets people with disabilities maintain access to services while saving to develop assets. The latter, bearing the name of the former NFL player with ALS, provides access to speech-generating devices. In addition, our Workforce Innovation and Opportunity Act will make it easier for students with disabilities to pursue competitive employment. 

Persons with disabilities are nearly twiceas likely to be self-employed as the general population. To encourage their entrepreneurship, it makes sense to include them in the Small Business Administration’s 8(a) certification program, which opens up federal contracting for emerging businesses. Any restructuring of the tax code should consider ways in which companies can benefit from the talent and energy of their disabled employees.

The Individuals with Disabilities Education Act (IDEA) has opened up unprecedented opportunities for many students. Congressional Republicans will lead in its reauthorization, as well as renewal of the Higher Education Act, which can offer students with disabilities increased access to the general curriculum. Our TIME Act (Transition to Integrated and Meaningful Employment) will modernize the Fair Labor Standards Act to encourage competitive employment for persons with disabilities. We affirm our support for its goal of minimizing the separation of children with disabilities from their peers. We endorse efforts like Employment First that replace dependency with jobs in the mainstream of the American workforce.

We oppose the non-consensual withholding of care or treatment from people with disabilities, including newborns, the elderly, and infirm, just as we oppose euthanasia and assisted suicide, which endanger especially those on the margins of society. We urge the Drug Enforcement Administration to restore its ban on the use of controlled substances for physician-assisted suicide. 

...
Precisely because we take our country’s treaty obligations seriously, we oppose ratification of international agreements whose long-range implications are ominous or unclear. We do not support the U.N. Convention on Women’s Rights, the Convention on the Rights of the Child, the Convention on the Rights of Persons with Disabilities, and the U.N. Arms Trade Treaty, as well as various declarations from the U.N. Conference on Environment and Development.

An Indiana Abortion Law, Disability, and Autism

Chelsea Schneider, Tony Cook and Shari Rudavsky report at The Indianapolis Star that Indiana Governor Mike Pence has just signed an expansion of the state’s abortion restrictions.

Pence, a social conservative with a long track record of opposing abortion, described the new restrictions as a “comprehensive pro-life measure that affirms the value of all human life.”
...
The measure, House Enrolled Act 1337, would make Indiana only the second state to prohibit a woman from seeking an abortion because her fetus was diagnosed with a disability such as Down syndrome. It also would prohibit abortions when they are sought based on the gender or race of a fetus, and would require the remains of miscarried or aborted fetuses to be interred or cremated.

Last week, Sandhya Somashekhar reported at The Washington Post:

The fetal anomaly provision is particularly troublesome, said Patti Stauffer, vice president of public policy for Planned Parenthood of Indiana and Kentucky. It prohibits a provider from knowingly performing an abortion sought because of “a diagnosis or potential diagnosis of the fetus having Down syndrome or any other disability,” according to the bill digest.

Clinics would need to ask women why they want an abortion. It is unclear, Stauffer said, whether the woman would be compelled to provide an answer. The bill digest says doctors could face “disciplinary sanctions and civil liability for wrongful death” if they knowingly abort a fetus because of the diagnosis of a fetal disability.

Supporters of the fetal disability provision say it is critical to prevent discriminatory selective abortions, especially in light of new tests that can tell with a high degree of certainty if a fetus is at risk of developing Down syndrome or another disorder.

What does any of this have to do with autism?  In The Politics of Autism, I explain:

When a pregnancy is under way, doctors can detect certain kinds of disorders, but neither amniocentesis nor any other prenatal test can currently tell us whether a fetus will become autistic. Suppose that such a test did exist. “The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80 percent likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioral approach,” says leading autism scientist Simon Baron-Cohen. But would the “best case use” be the most common? When amniocentesis indicates Down Syndrome, most mothers choose abortion. A study of autism parents in Taiwan found that just over half would abort if a prenatal test indicated that their next child would be autistic. We cannot be sure what the figures would be if such tests were available in the United States, but it seems likely that a large share of autism pregnancies would end in abortion.

The politics of the issue would be complicated, to say the least. For decades, the broader disability-rights movement has had an uneasy relationship with the movement to curb abortion. On the one hand, selective abortion angers disability rights activists, with some using terms such as “eugenics” and “genocide.” On the other hand, many of these activists also believe that the right to control one’s own body is a thread that connects disability rights and abortion rights. The growing ranks of identified autistic adults could be as conflicted as their elders in the disability rights movement. But it is also possible that they could change the issue’s political landscape by coming down heavily on one side or the other. Expect pro-life and pro-choice groups to vie for their support.

Down Syndrome, Autism, and Abortion

In the last chapter of The Politics of Autism, I discuss the vexing question:  what if a prental test for autism leads to abortions?  Tamar Lewin writes at The New York Times:

Opening a new front in the abortion wars, abortion opponents are pushing Ohio to make it illegal for a doctor to perform an abortion if a woman is terminating her pregnancy to avoid having a baby with Down syndrome.

The legislature is expected to approve the measure this fall because lawmakers endorsed by the National Right to Life Committee, which supports the bill, make up more than two-thirds of both houses.

Gov. John R. Kasich, a Republican who is running for president, opposes abortion but has not yet taken a position on this bill. Since his election in 2010, he has signed a variety of abortion restrictions, including a law requiring women to have an ultrasound and be offered a chance to see an image of the fetus before undergoing the procedure.

Mike Gonidakis, the president of Ohio Right to Life, said his group had made the bill here a legislative priority because Down syndrome is so recognizable, so easily diagnosed in pregnancy — and so likely to lead to abortion.

“We all want to be born perfect, but none of us are, and everyone has a right to live, perfect or not,” he said. “You go to any supermarket or mall and see these families who just happen to have a child with Down syndrome, and they will tell you how fortunate they are to have those children. Pretty soon, we’re going to find the gene for autism. Are we going to abort for that, too?”

Blood Test to Market

Bradley Fikes reports at U-T San Diego:

In a potentially major advance in diagnosing autism spectrum disorder, San Diego's Pediatric Bioscience is preparing to sell a blood test later this year that would detect risk of one of its most common forms 

The company's test detects antibodies in a woman’s blood that can cause what it calls “maternal autoantibody-related” autism, which the company says, based on clinical studies, represents 23 percent of all autism cases. 

The test delivers a false positive response just 1.3 percent of the time, said Jan D’Alvise, the company's president and chief executive.

...
A positive test in mothers of infants or young children could expedite referral for assessment, she said. Also, if given before a planned pregnancy, the test could help women decide whether they should turn to parenting alternatives such as surrogate pregnancy or adoption. 

Children of those who test positive would be sent to a specialist for a final diagnosis, expediting therapy. 

Pediatric Bioscience plans to start selling the test in the third quarter of this year, D'Alvise said at the Biotech Showcase conference in San Francisco, an annual meeting of biotech investors and companies held concurrently with the JP Morgan Healthcare Conference. The company is now raising funds for that launch. 

The test will cost about $1,000, and the company will partially subsidize the test for the women who aren't able to pay. Insurers are expected to reimburse for the test once they're familiar with it and have received recommendations from clinicians. 

The market for such a screening method could be worth $1.8 billion annually, D’Alvise said.

As a previous post noted, however, there are serious scientific questions about this blood test.
And testing of the mother's blood also raises the specter of abortion.

Defying Multiple Stereotypes

A letter in Live Action News defies a number of stereotypes:

Hello, everybody. I’m 19 years old, and 100% pro-life.

I’m also an atheist.

But before you decide to stop reading this, you deserve to know a few things about me.

I was born and raised in a Catholic family. I was baptized a month old, went to Sunday school, and went to church every Sunday. Okay, I went most Sundays. I also know that there are other divisions of Christianity, as well as other religions, and I respect your spirituality, what ever it may be.

I stopped breathing twice the day I was born. They doctor didn’t think I would live very long, but I did. I have ADHD, High-functioning Autism (also known as Asperger’s Syndrome), Gastro-Esophageal Reflux Disease, a thyroid disease, and, for the first four years of my life, was born deaf. I’m not asking for your pity, I’m just letting you know.

I was a Girl Scout for 13 years, which is the max. I’ve earned the Bronze Award, the Silver Award, and I almost earned the Gold Award, the highest honor you can receive. I have even earned a religious award, as well.

With all of those things, you would think that I would be very religious, but that’s not the case. Over the years, my views have changed, and I eventually became an atheist. But what hasn’t changed is my belief that abortion is wrong. It’s completely cruel, no doubt there. Everyday I grieve for the millions of lives that have been taken by the abortion industry.

You might be wondering why I’m telling all of this to you. It’s because I’ve been needing to get this off of my chest for a while, now. So thank you for taking your precious time to listen to what I have to say, and let’s keep on fighting for the lives of the unborn!

Down Syndrome and Abortion

There is currently no prenatal test for autism.  If there were, as in the case of Down Syndrome, the issue of abortion would come up.  The Guardian reports:

The scientist Richard Dawkins has become embroiled in another Twitter row, claiming it would be “immoral” to carry on with a pregnancy if the mother knew the foetus had Down’s syndrome.

The British author made the comment in response to another user who said she would be faced with “a real ethical dilemma” if she became pregnant and learned that the baby would be born with the disorder.

Dawkins tweeted: “Abort it and try again. It would be immoral to bring it into the world if you have the choice.”

He faced a backlash for his comment, with one mother, who has a child with the genetic condition, saying: “I would fight till my last breath for the life of my son. No dilemma.”

Dawkins later defended his view, saying he would not apologise “for approaching moral philosophic questions in a logical way”. He went on to point out that Down’s syndrome foetuses are aborted in many cases, and that abortion was a woman’s choice.

Prenatal Testing and Ethics

At The Guardian, David Cox writes:

Once a conclusive biological trace has been identified, be it at the gene or protein level, this could be used at any point in development from before birth right through to adulthood. But unless the current diagnostic accuracy improves, there would be profound ethical concerns.

A large percentage of parents would almost certainly use a prenatal autism test to make a decision on whether to terminate the pregnancy – if the statistics for Down's syndrome since the introduction of prenatal screening are anything to go by. It is believed that around 90% of pregnancies in England and Wales that receive a diagnosis of Down's syndrome are aborted.

The existence of a prenatal screening test would also have implications for potential treatments. There are currently no drugs for treating autism disorder but in the near future, various hormonal treatments may become available. If clinicians were tempted to start medical intervention very early, there would be concerns about side effects in the unborn child. If the diagnosis proved to be faulty, the consequences of these decisions could have lasting effects.

"The best case use of a prenatal test at the moment would be if you could say to a parent, your child has got an 80% likelihood of autism and so once the baby's born, we would like to keep a close eye on that child in case they need extra support like speech therapy or social skills training or some sort of behavioural approach," Baron-Cohen says.

"That would mean that there were no potential side effects and you might be able to intervene at a much younger age. So from an ethical point of view, if there was a screening test, using it for early intervention via a psychological approach would be quite risk-free and could carry a lot of benefit."

Autism and Sex Selection

From the Sydney Morning Herald:

Parents are increasingly asking to choose the sex of their children in an attempt to lower their baby's risk of diseases and disorders ranging from cancer to autism, IVF doctors say. 

Figures from one of Sydney's top IVF clinics show about one in 20 parents seeking embryo screening are looking to have a female baby to reduce their risk of autism.

The question is, what is the best thing for that woman: continuing to try on her own and miscarrying versus doing IVF and testing the embryos? We can't know for sure that everybody definitely benefits.

Fertility experts say the issue is the tip of the iceberg with a huge range of tests becoming available. Some clinics in the US now offer testing for up to 600 different genetic markers. 

The medical director of the fertility company Genea, Mark Bowman, said his organisation had done more than 100 cycles of what is known as "pre-implantation genetic diagnosis" this year, mostly for conditions such as cystic fibrosis, where family members have the condition and a gene mutation is known to be responsible.
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"In a way these tests are the ultimate preventative medicine," Associate Professor Bowman said.

Read more: http://www.smh.com.au/national/health/why-ivf-parents-are-choosing-girls-over-boys-20131225-2zwrf.html#ixzz2ogZACupc

Sex Selection and Autism

A number of posts have discussed the ethical issues surrounding the potential for prenatal testing. At Forbes, Emily Willingham writes:

Health authorities in Western Australia have reportedly given the go-ahead to a fertility clinic to perform sex-selection of embryos for families at a “high risk” of having an autistic child. According to The West Australian:

There are no genetic tests for autism, so instead of looking for a gene mutation, the screening identifies the embryo’s sex because boys are at least four times more likely to develop autism.

The test, says the report, would be done in pre-implantation embryos, presumably from in vitro fertilization. In this case, “high risk” apparently means families who have two or more boys with “severe autism.”

No existing genetics testing can confirm or exclude most causes of autism. The rationale for this test is that because autism is diagnosed four times more often in boys than in girls, male embryos would not be selected for implantation. Some research has suggested that being female might be “protective” against autism. But other studies indicate that girls and women with autism present very differently from boys and might go undetected because existing criteria skew toward the manifestations in boys.

According to The West Austrialian, “chief medical officer Gary Geelhoed said it was a sensitive area.” That’s putting it mildly. Some autistic people are not happy and view the decision as eugenicist. At the least, given how multifactorial the causes of autism appear to be and the questions of how real the sex bias in autism is, the rationale being used appears flimsy. Certainly, selecting a female embryo does not guarantee against having an autistic child.

Placentas, Early Diagnosis, and Abortion

On the Ivanhoe Newswire, Dr. Harvey Kliman talks about his research on abnormal folds in the placenta as a way to identify children who are at risk for autism.

How significant is this in helping with the early detection of autism?

Dr. Kliman: Before this test, the PlacentASD test, as we call it, there is no method at birth to know this at all. There is zero method, so parents would normally, if they do not have a child with autism already, not notice this until the child is two or three years of age. The CDC, the Centers for Disease Control, who looks at the frequency of autism and the ppolrevalence; how many families have it, they recently came out in March of this year with an estimate of 2%; 1 out of 50 children now born in this country are diagnosed with autism. They have actually shown that sometimes families do not know until their child goes to school in kindergarten.
...
So, just help me here, how significant is that because there is no cure for autism. People, who are diagnosed, if that is the correct term with autism, live with that for their life and there are obviously therapies, etc. to try and help them. So, what is the significance of this?

Dr. Kliman: That is a great question and while it is true that the genetic basis for what causes autism is in these people, if we have early intervention, we can help these children become socialized, so they can fit in to the point where we cannot even tell that they have any condition. Let me also point something out, people have said to me, ‘can this test be used for prenatal diagnosis, diagnosis before delivery, because maybe a family would want to terminate a pregnancy.’ And I am completely against that. [emphasis added] The reason is, is that these children are exceptional. Many of them are very smart. There are many professors with autism at MIT right now. When we look at Google and Facebook and Microsoft, and maybe even Apple computer, we are talking about people who are brilliant; who are very creative, but they are not quite adapted to social interactions. They are not as empathetic as a normal person might be for example. If we can train children early to respond to someone being upset, or someone being hurt, we can take someone who is exceptional, and actually very smart, with spatial recognition and mathematics, and things like that, and have them be happier. That is why I think it is so important to make this diagnosis early to give these children, and then adults, the best chance possible to be productive members of our society.

Dr. Kliman's objections notwithstanding, it is highly plausible that a prenatal test would indeed lead to abortions.  In the majority of cases where amniocentesis indicates Down Syndrome, the pregnancy ends in abortion.

A Step Toward Prenatal Testing?

Time reports:

Would you want to know if your unborn baby is at risk of autism?

Researchers wrapping up a 4,406-patient study say that a new genetic test that analyzes fetal DNA in more detail than current prenatal tests, can detect additional abnormalities, including those associated with autism and other intellectual disabilities, making them a potentially more accurate way of predicting disease risk.

Chromosomal microarray analysis, which compares specific regions of an unborn baby’s DNA to that of a normal genome, should be offered to all expectant mothers, say researchers at Columbia University who led the study. The current method of prenatal testing for genetic diseases, known as karyotyping, involves a cruder analysis of DNA as it is packaged in chromosomes in fetal cells. Karyotyping can identify broad abnormalities such as changes in the number of chromosomes or structural aberrations; it is used to diagnose conditions such as Down syndrome, for example, which results from an extra chromosome. Microarray testing, which uses the same invasive methods as karyotyping — by sampling the chorionic villus cells from the placenta, or amniocentesis, which extracts cells and fetal DNA from amniotic fluid—can do that and more, says Dr. Ronald Wapner, director of reproductive genetics at Columbia University Medical Center and lead author of the study published in the New England Journal of Medicine.

“Karyotyping has been the gold standard for 60 years,” he says. “Microarray identifies everything a karyotype identifies and more, so why wouldn’t people want more information?

The article merely describes current research and does not suggest that prenatal testing is in the near future.  But the possibility of such a test, of course, could raise the issue of abortion.

Emken, Autism, and Abortion

At The Los Angeles Times, Patt Morrison interviews Elizabeth Emken, autism mom and former vp for government relations at Autism Speaks:

Abortion rights is one clear difference between the parties.

You have to know my personal story. My son is a blessing in every way. He's one of the hardest-working, happiest children you'll meet. The genetics of autism are real, but there are also environmental triggers. If we can identify that you're vulnerable for something [like having an autistic child] and that becomes enough of a reason not to take a risk [of giving birth], that's a slippery slope. And it stops us from addressing what I think is the true culprit — changes in our environment that have led to a huge increase in not just autism but a lot of auto immune disorders and mental disorders. So my view on life comes from an angle that we sometimes take the easier path rather than the more difficult one.

What do you mean by an easier path? To have an abortion?

Yes. My view on valuing life is very broad for the disabled, for anyone where we can start saying, I really don't want [a child with] red hair.

 Women choose to have abortions for very serious reasons, including the health of the fetus. Shouldn't they be able to do that?

I reject the premise of Democrat and Republican, you can't paint me in a narrow box.

But ultimately, women can get an abortion, or they can't.

 I personally believe it will remain legal. I'm not interested in turning the clock back 30 or 40 years. Let's talk about what it is to value all human life and why we want to rethink how we're using abortion [as] birth control.

New Findings: Knowledge and Risks

David Weber writes at ABC News [Australia]:

A new study has discovered there are different biological types of autism, with genetics, the immune system and the environment all thought to be factors in causing the varied forms.

A study of 350 children in the US found two biologically different types of brain development in autism and concluded that there are likely to be more.

Dr David Amaral, the head of the Autism Phenome Project at the University of California, says the study found the brains of some boys with autism "get too large, too soon".

"We don't see it in girls, and even in boys we see it only in a subset of children with autism," he said.

He says in biological terms there are different types of autism, but they all have similar symptoms.

"That's one of the mysteries at this point. We know that there are different biologies but that the behavioural symptoms of children with autism all look basically the same," he said.

"Many, many people now are trying to figure out whether all of these various biological causes are focusing on one final common pathway."

He says as research progresses, one form of autism might be more easily treated than others.

"As one example, about 12 per cent of women who have children with autism have antibodies that are directed at the foetal brain," Dr Amaral said.

"We're doing research now to determine whether that really is a cause. And if that's the case, that leads directly to a diagnostic marker for a subset of families that are going to go on to have children with autism.

Fox quotes Dr. Amaral:

Amaral predicted there would be many more biological subtypes of autism identified just as there were many forms of cancer. "If we were trying to cure all cancer at the same time, it would be hopeless," he said. "Well, the same is true for autism. My guess is that there just isn't going to be a single diagnostic marker for autism -- there's going to be a whole panel."

The West Australian reports:

In a world first, Perth researchers will screen unborn babies for autism risks in the hope children can be treated earlier.

The team, headed by Telethon Institute for Child Health Research senior research fellow Andrew Whitehouse, will monitor 100 pregnant women who have a child with autism and 100 women who have a child with normal development.

At an international autism conference in Perth today [last Thursday], Dr Whitehouse will present research from another study showing abnormal levels of the hormone testosterone in umbilical cord blood are related to language impairment, a symptom of autism. In the next study over five years, his team will check foetuses for biomarkers linked to a higher risk of autism, including abnormal brain growth.

"Some of the genes linked to autism are responsible for aspects of neurodevelopment that happen very early on," Dr Whitehouse said.

Judi Barrett-Lennard, who is 32 weeks pregnant with her third child, is in the study. She and her husband were keen to support research that might find a cure for the condition that affected their seven-year-old son.

More on the conference at LeftBrain/RightBrain

At Autism Key, Susan Moffitt writes:

In the future, I can see different strains of autism being treated like cancer – powerful drugs attacking the problem. Except autism isn’t cancer and many people feel it to be an alternate reality rather than something to be eradicated.

Which brings us to the in utero screening for autism. How can this not spell pregnancy terminations for worried would be parents?

My conclusion is that we are perched on top of a very slippery slope in which “progress” will be judged subjectively by all the autism stakeholders.

Abortion and an "Autism Test"

Back in January, the Deseret News reported:

Against the backdrop of a dramatic increase in the incidence of autism, a Utah company today will formally launch genetic testing and related counseling to help family doctors and pediatricians with early diagnosis of some autism spectrum disorders (ASD).

Lineagen's FirstStepDX testing looks for genetic factors known to be associated with ASD and developmental delay, said Michael Paul, president and CEO of the company. He said studies have shown that autism treatment, called "Early Intensive Behavioral Intervention," is effective in children as young as 18 months, so early diagnosis is critical.

..

Autism's heritability factor is estimated at about 70 percent. Breast cancer heritability is around 30-40 percent, Paul said. Most diseases also have an environmental component. But the strength of that genetic component in autism is why genetic counseling is so important for families, and Paul said that is why Lineagen built it into the test in the report that explains the results, guidance for the local doctor and the ability to talk directly to one of Lineagen's genetic counselors as part of the testing process.

Consumers cannot buy the test directly but must go through a physician. Many insurance policies will cover its cost.

Lineagen also offers an on-line version of the Modified Checklist for Autism in Toddlers (M-CHAT) at www.m-chat.org , a developmental screening tool for toddlers 16 to 30 months old, and plans to add other free Web tools.

At The Age of Autism, Kevin Barry takes a darker view of the development:

Lineagen, a biotech company based in Utah, is now marketing a blood test which identifies "new genetic variants associated with ASD (Autism Spectrum Disorders)" . (See Lineagen HERE) At this time, Lineagen positions its product as a post natal early intervention tool - not as a prenatal test. However, with autism rates conservatively affecting one in every 70 boys born today, expecting couples are rightfully concerned about autism. FirstStepDX is an easy, single draw blood test that could be added to routine prenatal OB/GYN appointments.

Lineagen's website explains this simple process of their FirstStepDx blood test:

What does the testing process include?

Lineagen’s FirstStepDx combines two state-of-the-art genetic tests: whole genome chromosome microarray analysis (CMA) and fragile X testing.

Two blood samples are taken from the person undergoing testing and are obtained during a single blood draw. From these samples DNA is extracted, which is then used for genetic testing.

The FirstStepDx test comprises a comprehensive service that includes pre- and post-test genetic counseling and a detailed report delivered in an easy-to-read format, suitable for both physicians and families. Lineagen Our Services HERE

The Lineagen site also describes the test's use of new genetic variants:

Over the past several years, powerful research possibilities have emerged, particularly related to the identification of new genetic variants associated with ASD, MS, and COPD. Furthermore, Lineagen has in-licensed best-in-class genetic research data from notable establishments, including the Children’s Hospital of Philadelphia (CHOP) to form the most extensive proprietary data set on ASD in the world. About Lineagen HERE

...

The NIH Office of Autism Research Coordination proudly displays its work on "genetic risk factors." Some autism non-profit groups, in support of the 2011 Combating Autism Re-authorization Act, put the identification of "several autism susceptibility genes" on the short list of the top reasons to continue supporting millions of dollars of government funded autism research each year.

Blood tests are now available to test for genetic variants associated with autism. Universal Family Church believes it is outrageous that the fruit of past government research have been used to create tools that could be used today for selective abortions - abortions potentially performed based on only a slight probability that a child might develop a disability or disorder.

A couple of items from the comments section:

I just complained to the FDA (you should too) because, while this company is and should be free to market government approved tests for Fragile X to anyone they want, conflating the broad term "autism" with Fragile X appears to me to be highly misleading and unethical. Unlike many here, I support genetic research because I think it'll uncover therapies for SOME subtypes on the spectrum.

Unfortunately, allowing companies like Linagen to make overly broad and misleading claims about autism testing will set back genetic research. The folks at ASAN are going to have a field day with this one.

...

If they have the DNA of autism families collected and catalogued in a genomic database then they can just screen fetal tissue even embryos against this DNA. So whether or not a child has Fragile X or some other purely genetic condition, as long it as show similar DNA (meaning a risk for autism) to that in the autism genome database then that might frighten new parents enough to abort or select Pre Implantation Genetic Diagnosis (PGD).

What is PGD?

http://www.reproductivegenetics.com/pgd.html

Who will survive? It'll come down to the fit vs. unfit.

Just makes me sick.

Autism and Abortion

Pro-life advocates have pointed to a recent study of "changepoints" in autism trends to point the finger at vaccines containing fetal cells. One of the authors of the study has a different view:

The statements made on the website incorrectly represent, and far overreach, our study findings. Our study draws no causal linkages with anything and the recent increase in autistic disorder, and certainly not to the use of fetal tissues in vaccines. Our research serves as a screening tool to direct future research to a potentially more productive time frame for additional study. Without additional screening approaches there are potentially a huge number of possible exogenous factors and explanations that could be associated with autism. The data we used suggest that the timing would be similar in Denmark and in California (the Japanese data may be earlier in occurrence, but we were not able to determine a change point from the study we used), suggesting that something similar may have been occurring in at least developed countries at this time. Autistic disorder increased in California and Denmark beyond the time frame of our study, but at different rates. If we assume a dose response relationship, then exposure to whatever exogenous factor or
factors, that might be associated with AD, would have had to increase in parallel to the AD levels in different places. But, the levels of exposure may have been different. However, in no case is a correlation with any of these things, including with the timing of the change point, with some other occurrence any indication of causation.