ArticleBrain and behavior2025
Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.
Article in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Unmetabolized Folic Acid: Biology, Epidemiology, and Clinical Consequences: A Systematic Review.Nutrients · 2026Pooled it
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Review
- Cerebral folate deficiency, developmental difficulties in autism spectrum disorder and the role of leucovorin: a narrative review of mechanisms and clinical evidence.Drugs in context · 2026Review
- Folate in autism neurodevelopment.Frontiers in nutrition · 2026Review
- Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.Brain and behavior · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the association between increased fetal nuchal translucency (NT) and maternal folate receptor alpha autoantibodies (FRAA) positivity, and to evaluate the subsequent risk of non-syndromic autism spectrum disorder (ASD) in offspring.
methodsA total of 3600 first-trimester ultrasounds were screened at a fetal medicine center. Among these, 27 fetuses with markedly increased NT (≥ 3.5 mm) underwent invasive prenatal diagnosis, including karyotyping, CGH array, and postnatally whole-exome sequencing (WES) when standard tests were negative. Maternal serum samples were tested for FRAA using ELISA. Eleven pregnancies with negative genetic testing were followed longitudinally, and neurodevelopmental outcomes in children were assessed up to 36 months using ADOS-2 and DSM-5 criteria.
findingsAmong the 11 fetuses with negative genetic outcomes, 4 mothers tested positive for FRAA. All four FRAA-positive offspring were later diagnosed with ASD, while only one of the seven FRAA-negative offspring received an ASD diagnosis. FRAA-positive cases exhibited markedly increased NT (≥ 3.5 mm) but no pathogenic genetic variants, suggesting an immune-mediated etiology. FRAA levels persisted in maternal and neonatal serum, implying ongoing exposure during gestation.
conclusionFRAA positivity in pregnancies with isolated markedly increased NT may serve as an early biomarker of increased ASD risk in offspring. These findings support the hypothesis of an immune-metabolic mechanism contributing to ASD and suggest potential preventive interventions such as folinic acid supplementation.
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