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New way to spot autism risk at birth 97.6 percent accurate

Kathleen Blanchard's picture
Autism predicted at birth

What if autism could be detected at birth with more than ninety percent accuracy? Researchers say finding out an infant's risk of Autism Spectrum Disorder is now possible, thanks to a new investigation that uncovered abnormalities in the placenta are an important marker of the disorder's risk.

The findings, published yesterday by Yale scientists, suggest 97.6 percent accuracy for diagnosing risk of autism that also means earlier intervention and better outcomes.

Most autism cases are diagnosed at age 3 or 4, when treatment becomes more difficult. Identifying autism early when the brain is more responsive to treatment has been a focus of researchers.

Harvey Kliman, M.D., research scientist in the Department of Obstetrics, Gynecology & Reproductive Sciences at the Yale School of Medicine, and research collaborators at the MIND Institute at the University of California, Davis, discovered trophoblast inclusions - abnormal cell growths - in the placenta are important markers for infants at risk for the disorder that the CDC reports affects one out of 50 children born each year.

The study

Kliman and colleagues looked at 117 placentas among families with one or more children with autism that were part of a study called "Markers of Autism Risk in Babies – Learning Early Signs".

The researchers compared the number of trophoblasts in at-risk families to 100 controls, finding the presence of 4 or more of the abnormal cells growths predicted risk of autism with 97.6 percent accuracy.

Compared to controls, families at risk had 15 of the abnormal cells, while the controls had no more than two.

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Until now, the most reliable marker of autism risk has been family history, the study authors explain.

The new findings builds on previous Yale research that was published June 26, 2006 online in the journal Biological Psychiatry.

The researchers have continued their studies in hopes of finding a way to tell if an infant is at risk for autism early, which would lead to diagnosis before age 3 or 4.

The 2006 study compared placentas from 13 children with autism to placentas of 61 unaffected children for the presence of trophoblast inclusions.

"Regrettably couples without known genetic susceptibility must rely on identification of early signs or indicators that may not overtly manifest until the child's second or third year of life,” Kliman said in a press release.

Having one child with autism raises the risk of having another with the disorder nine-fold. Having a way to identify the risk allows the opportunity to employ intervention strategies earlier in life.

Kliman said the hope is that the test will become routine. Examining the placenta at birth for trophoblast inclusions could improve quality of life for individuals living with autism.

Yale University
April 25, 2013

Image credit: Wikimedia commons

This page updated April 27, 2013