Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring.
Mid-pregnancy mom blood shows a chemical pattern linked to later autism, giving us a heads-up before birth.
01Research in Context
What this study did
Ritz et al. (2020) looked at blood taken from moms at mid-pregnancy. They checked every small chemical, not just one or two.
The team compared moms whose kids later got an autism diagnosis with moms whose kids did not.
What they found
The moms of autistic kids had clear shifts in steroid and fat pathways. These paths help build the brain.
No single magic marker stood out. The whole pattern mattered.
How this fits with other research
Heald et al. (2020) did the same kind of scan, but in toddlers, not moms. Their 34-chemical panel caught autism risk with 91% accuracy. Together, the two studies show the signal is there before birth and stays into early childhood.
Bravo-Muñoz et al. (2025) pooled data on moms with diabetes or PCOS. Those moms have a small jump in autism risk. Beate’s work hints the jump may come from the same steroid and fat shifts.
Zhu et al. (2022) found vitamin and amino-acid changes in the poop of autistic kids. Beate saw steroid and fat changes in mom’s blood. Both point to metabolism, just different windows of time.
Why it matters
You can’t run a mid-pregnancy blood test in your clinic, but you can keep an eye on family history of diabetes, PCOS, or metabolic issues. When you see those red flags, start early monitoring and share the info with pediatricians. The sooner a child is watched, the sooner you can begin teaching skills if delays show up.
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02At a glance
03Original abstract
Discovering pathophysiologic networks in a blood-based approach may help to generate valuable tools for early treatment or preventive measures in autism. To date targeted or untargeted metabolomics approaches to identify metabolic features and pathways affecting fetal neurodevelopment have rarely been applied to pregnancy samples, that is, an early period potentially relevant for the development of autism spectrum disorders (ASD). We conducted a population-based study relying on autism diagnoses retrieved from California Department of Developmental Services record. After linking cases to and sampling controls from birth certificates, we retrieved stored maternal mid-pregnancy serum samples collected as part of the California Prenatal Screening Program from the California Biobank for children born 2004 to 2010 in the central valley of California. We retrieved serum for 52 mothers whose children developed autism and 62 population controls originally selected from all eligible children matched by birth year and child's sex. Also, we required that these mothers were relatively low or unexposed to air pollution and select pesticides during early pregnancy. We identified differences in metabolite levels in several metabolic pathways, including glycosphingolipid biosynthesis and metabolism, N-glycan and pyrimidine metabolism, bile acid pathways and, importantly, C21-steroid hormone biosynthesis and metabolism. Disturbances in these pathways have been shown to be relevant for neurodevelopment in rare genetic syndromes or implicated in previous studies of autism. This study provides new insight into maternal mid-pregnancy metabolic features possibly related to the development of autism and an incentive to explore whether these pathways and metabolites are useful for early diagnosis, treatment, or prevention. LAY SUMMARY: This study found that in mid-pregnancy the blood of mothers who give birth to a child that develops autism has some characteristic features that are different from those of blood samples taken from control mothers. These features are related to biologic mechanisms that can affect fetal brain development. In the future, these insights may help identify biomarkers for early autism diagnosis and treatment or preventive measures. Autism Res 2020, 13: 1258-1269. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.
Autism research : official journal of the International Society for Autism Research, 2020 · doi:10.1002/aur.2311