Autism Genetic Screening: Can We Test for Autism During Pregnancy?

What is autism?

Autism is a complex neurodevelopmental condition influenced by both genetic and environmental factors. It may affect speech, social interaction and behaviour.

Autism has a strong genetic component. For families with an affected child, the chance of autism in a subsequent child is higher than in the general population.

Can autism be screened for during pregnancy? Unfortunately, no.

Routine prenatal tests—including expanded carrier screening, first-trimester screening or NIPT, and the detailed second-trimester ultrasound—can identify certain genetic, chromosomal or structural conditions, but they do not screen for autism.

There is currently no physical or biochemical marker that can predict autism during pregnancy. Diagnosis is generally based on a child’s development and behaviour after birth, often from two years of age.

What if there is a family history of autism?

Family history is an important factor when assessing the likelihood of autism.

Research has shown that recurrence risk is higher when there is an affected child in the family:

• Family history

• Recurrence risk* (Ozonoff, Pediatrics 2024)

Overall risk with family history - 20%

Risk with older son affected - 22%

Risk with older daughter affected - 35%

Risk with multiple affected children - 36%

Can genetic testing help?

If there is a family history of autism or a child with developmental concerns, speak to your doctor. A genetics specialist may recommend:

* A detailed three-generation family history to look for inheritance patterns.

* Genetic testing such as Fragile X testing, chromosomal microarray or genomic sequencing.

* If a specific genetic cause is identified, prenatal testing may be possible during a subsequent pregnancy to determine whether the baby carries the same genetic variant.

* For some families with a known genetic condition and a high recurrence risk, IVF with preimplantation genetic testing (PGT) may be an option.

The key message

There is currently no routine prenatal test that can predict whether a baby will develop autism. However, when there is a strong family history, genetic assessment can help clarify the underlying cause and provide more personalised information about recurrence risk and reproductive options.

If you have a child or close family member with autism, discuss your family history with your obstetrician or consider a referral to a genetics specialist.