Autism Screening in Fetuses Now A Reality

Researchers from Harvard have just diagnosed autism in fetuses while still within the womb.
They scanned unborn children to differentiate features in their brain that may indicate the later
emergence of autism after birth. The study has performed the earliest known possible diagnosis
of autism.

This development shows promise in enabling early diagnosis of infants, which also makes early
treatment possible. Early treatment means significant improvement in their chances of being able
to reconnect with their surrounding environment.

What is Autism?

Autism spectrum disorder (ASD) is a disorder of the brain that affects children’s capacity to
communicate and interact with the people and things around them. The condition can be severe
enough to cause an overload of sensory information and shut them down, which cuts them off
and isolates them.

There is currently no cure. Cognitive therapy is being conducted on patients in the hope of
improving their skills for communication. Success of such treatments depend on the severity of
the condition and early diagnosis. To date, autism can be diagnosed as early as 18 months old.

According to the research team’s abstract in the American Association for Anatomy, the cause of
this disease – which is diagnosed in one child out of 68 in the U.S. – is still not known. It is
believed that ASD is caused by environmental and genetic factors that influence pre- and post-
natal development.

Diagnosing Autism using MRI

The team believed that magnetic resonance imaging or MRI may detect structural anomalies and
diagnose the condition. Their study used MRI to scan the brains of fetuses within the womb at
the stage of approximately 25 weeks.

The results showed significant differences in the brain’s insular lobe between neurotypical
children and children who were subsequently diagnosed with the disorder after birth.

The insular lobe region is far larger in children who were later diagnosed with autism. This
section of the brain is believed to be involved in social behavior, decision making, and
perceptual awareness, which are important in enabling social awareness and intelligence.

The study’s first author, Massachusetts General Hospital’s Dr. Alpen Ortug, says that earlier
detection would enable doctors to better treat ASD. Their study, he says, suggests that the insular
lobe’s increased volume could be a strong pre-natal biomarker which can predict ASD’s
emergence later in life.
The study scanned 39 brains of children while still within the womb and after birth. Nine of the
subjects had ASD while 20 had normal brain structures. The remaining 10 children were not later
diagnosed with ASD, but were seen to have health conditions that ASD patients are known to
have.

The scans also showed a more prominent junction between the hippocampal and the amygdala in
the autistic children, which is not seen in the aforementioned 10 children with health conditions.

According to the authors, their fetus screening method shows potential in predicting ASD’s
emergence while still in the pre-natal stage. This can enable the earliest possible diagnosis and
treatment for this disease.