New research suggests that the biological traces of schizophrenia may be detectable at birth. A large study published in Biological Psychiatry found that genetic risk for schizophrenia is linked to distinct epigenetic patterns—chemical modifications that regulate gene activity—in the cord blood of newborns.
Analyzing nearly 6,000 infants from four European birth cohorts, researchers identified differences in DNA methylation (DNAm) associated with genetic susceptibility to neurodevelopmental conditions such as schizophrenia, autism spectrum disorder, and attention-deficit/hyperactivity disorder (ADHD).
The strongest associations appeared in genes related to immune function, particularly within the major histocompatibility complex, a genomic region long implicated in schizophrenia.
“Genetic susceptibility to schizophrenia leaves a detectable footprint in DNA methylation profiles at birth,” said Charlotte A.M. Cecil, PhD, co-lead investigator at Erasmus MC University Medical Center Rotterdam. “These patterns appear long before clinical symptoms, suggesting a biological embedding of risk during fetal development.”
Investigators calculated polygenic scores—summaries of genetic risk—for each condition and tested their relationships with neonatal DNAm. Newborns at higher genetic risk for schizophrenia showed changes across hundreds of genomic sites, especially in immune-related regions. Associations for ADHD and autism were more diffuse, indicating subtler effects spread across broader genomic areas.
John Krystal, MD, editor of Biological Psychiatry, noted the potential significance: “The ability to detect schizophrenia risk at birth could one day inform early prevention and monitoring strategies, years before symptoms emerge.”
Researchers were particularly struck by the strength of the schizophrenia signal, given that the disorder typically develops in late adolescence or early adulthood. Co-investigator Isabel K. Schuurmans, PhD, also from Erasmus MC, said the findings reinforce the idea that schizophrenia’s origins may trace back to prenatal biological processes.
While the findings open new avenues for early detection, experts caution that translating them into clinical practice will require replication and validation in more diverse populations. Only a small fraction of children carrying these molecular signatures will later develop schizophrenia or other neurodevelopmental disorders.
Dr. Cecil said the results highlight promising directions for future study. “Identifying immune-related epigenetic signatures at birth helps us understand when vulnerability begins and how we might eventually intervene to support at-risk children.”
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