Early Second Trimester Maternal Serum Steroid-Related Biomarkers Associated with Autism Spectrum Disorder.
Deborah A Bilder, M Sean Esplin, Hilary Coon and 8 others
PMID 31410696WHAT IT FOUND
In a small pilot study, higher maternal estradiol and lower SHBG levels in early pregnancy were associated with autism in offspring.
A calculated marker for fetal steroid activity showed strong statistical prediction, but the authors warn these findings are speculative and require expert scrutiny.
Key findings
01Autism case status was significantly associated with increasing estradiol and decreasing SHBG levels in adjusted models.
02A novel calculation estimating fetal steroid activity (EF-DHEA) was associated with an 8.0-fold increase in the odds of autism for every standard deviation change.
03The authors state that although the fetal steroid activity findings are intriguing, the exploration is quite speculative and needs expert scrutiny before conclusions are drawn.
STILL TO COME
How it was doneWhat they found
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What it does not show
The sample size was very small (72 participants) and derived from a pilot study, limiting generalizability. The population was racially and ethnically homogeneous, reflecting Utah's demographics. The study used immunoassays, which require caution regarding absolute steroid values. The PNMS definition collapsed heterogeneous conditions (e.g., hypertension vs. diabetes) into a single category, preventing analysis of individual conditions. The authors explicitly state the EF-DHEA findings are speculative and require scrutiny from fetal endocrinology experts. Estriol, a common screening biomarker, was not measured, which the authors note as a limitation.
Declared interests
The study was approved by multiple oversight committees including the Utah Registry of Autism and Developmental Disabilities and the University of Utah. Funding availability determined the sample size, but specific funding sources or author conflicts of interest are not detailed in the provided text.
The easy way to misread this
Do not interpret the high predictive accuracy of the EF-DHEA marker as clinical evidence. The authors explicitly label this calculation as speculative and note that the small, enriched pilot sample and broad confidence intervals mean these results require replication in larger, more diverse populations before any conclusions can be drawn.