Maternal metabolic profile predicts high or low risk of an autism pregnancy outcome

Kathryn Hollowood, Stepan Melnyk, Oleksandra Pavliv, Teresa Evans, Ashley Sides, Rebecca Jean Schmidt, Irva Hertz-Picciotto, William Elms, Elizabeth Guerrero, Uwe Kruger, Juergen Hahn, S. Jill James

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background: Currently there is no test for pregnant mothers that can predict the probability of having a child that will be diagnosed with autism spectrum disorder (ASD). Recent estimates indicate that if a mother has previously had a child with ASD, the risk of having a second child with ASD is ∼18.7% (High Risk) whereas the risk of ASD in the general population is ∼1.7% (Low Risk). Methods: In this study, metabolites of the folate-dependent transmethylation and transsulfuration biochemical pathways of pregnant mothers were measured to determine whether or not the risk of having a child with autism could be predicted by her metabolic profile. Pregnant mothers who have had a child with autism before were separated into two groups based on the diagnosis of their child whether the child had autism (ASD) or not (TD). Then these mothers were compared to a group of control mothers who have not had a child with autism before. A total of 107 mothers were in the High Risk category and 25 mothers in the Low Risk category. The High Risk category was further separated into 29 mothers in the ASD group and 78 mothers in the TD group. Results: The metabolic results indicated that among High Risk mothers, it was not possible to predict an autism pregnancy outcome. However, the metabolic profile was able to predict with approximately 90% sensitivity and specificity whether a mother fell into the High Risk group (18.7% risk) or Low Risk group (1.7% risk). Conclusions: Based upon these measurements it is not possible to determine during a pregnancy if a child will be diagnosed with ASD by age 3. However, differences in the folate-dependent transmethylation and transsulfuration metabolites are indicative of the risk level (High Risk of 18.7% vs. Low Risk of 1.7%) of the mother for having a child with ASD.

Original languageEnglish (US)
Pages (from-to)72-82
Number of pages11
JournalResearch in Autism Spectrum Disorders
StatePublished - Dec 1 2018


  • Autism
  • Fisher discriminant analysis
  • Folate
  • Metabolic profile
  • Pregnancy
  • Transmethylation
  • Transsulfuration

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Clinical Psychology
  • Psychiatry and Mental health


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