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Autism Diagnosis Available At Birth By Examining the Placenta - Autism Spectrum Disorder (ASD)

June 26th 2006

Autism Diagnosis Available At Birth By Examining the Placenta - Autism Spectrum Disorder (ASD)

Placenta Magnified

Yale researchers believe that they can diagnose autism at birth by identifying a placental abnormality, specifically the presence of trophoblast inclusions, which is a marker for Autism Spectrum Disorder (ASD).  Autism is a developmental disorder that has a profound effect on socialization, communication, learning and other behaviors.  According to the researchers, one in every 200 children is diagnosed with a autism.

Harvey J. Kliman, M.D., believes the best time to make the diagnosis is at birth.  Kilman is the senior author of the study, and a research scientist in the Department of Obstetrics, Gynecology & Reproductive Sciences at the Yale School of Medicine.  "By serendipity, at a dinner party I happened to sit next to George M. Anderson, a research scientist in the Yale Child Study Center who had access to many cases of children with ASD. We realized that by working together we might be able to determine if this placental abnormality could be a useful clinical marker."


Previously, Kilman had observed an unusual pathologic finding in the placentas from children with Asperger Syndrome, an ASD condition which, like autism, impairs the ability to relate to others.

Through microscopic examinations, researchers compared placenta tissues from 13 children with ASD to those from 61 unaffected children for the presence of the trophoblast inclusions.  The placentas from ASD children were three times more likely to have the inclusions.

The findings were not completely unexpected, Kilman explains, "We knew that trophoblast inclusions were increased in cases of chromosome abnormalities and genetic diseases, but we had no idea whether they would be significantly increased in cases of ASD. These results are consistent with studies by others who have shown that ASD has a clear genetic basis."


The researchers believe that the inclusions are the product of abnormal folding of microscopic layers in the placenta and appear to result from altered cell growth.  Kilman compares the finding to the automobile check-engine light.  "When the light goes on it simply means that something is not right. If the light is on and there is, for example, steam coming from under the hood, then it is likely that the radiator is leaking. However, if the check engine light is on and there is nothing obviously wrong, then the car should be carefully checked."

The findings are reported in the June 26 online issue of Biological Psychiatry.
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Dan Wilson
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