A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Spring, 2023 | Number 2, Volume 37

Molecular signatures may point to later diagnosis of autism

Altered levels of certain molecular compounds in maternal blood collected during pregnancy and in cord blood samples taken after delivery may point to an increased likelihood of a later diagnosis of autism spectrum disorder (ASD). 

Xiaoyu Che and colleagues measured levels of 1,208 different chemical compounds in blood plasma samples collected from 408 mothers at mid-pregnancy and in cord blood taken from 418 children at birth. They also identified children in the cohort who received an ASD diagnosis by three to five years of age. 

The researchers found 12 chemical compounds in maternal mid-gestation (MMG) samples of girls with ASD, 3 compounds in MMG samples of boys with ASD, 8 compounds in cord blood (CB) samples of girls with ASD, and 12 compounds in CB samples of boys with ASD that were linked to autism. These included compounds associated with inflammation, disruption of membrane integrity, and impaired neurotransmission and neurotoxicity. Machine learning analyses indicated that the compounds—especially those in cord blood—could be useful as biomarkers for ASD. 

The researchers also detected several differences in levels of biomarkers between boys and girls, including a disruption in ether/non-ether phospholipid balance in MMG in girls but not boys. This finding, they say, may provide insight into the higher frequency of cognitive impairment in girls than in boys with ASD.


“Metabolomic analysis of maternal mid-gestation plasma and cord blood in autism spectrum disorders,” Xiaoyu Che, Ayan Roy, Michaeline Bresnahan, Siri Mjaaland, Ted Reichborn-Kjennerud, Per Magnus, Camilla Stoltenberg, Yimeng Shang, Keming Zhang, Ezra Susser, Oliver Fiehn, and W. Ian Lipkin, Molecular Psychiatry, April 10, 2023 (online). Address: W. Ian Lipkin, [email protected]


“Molecular signatures in maternal and cord blood linked to autism risk,” news release, Columbia University Mailman School of Public Health, April 12, 2023.