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Prenatal Ultrasound-Detected Structural Anomalies Associated with Autism Spectrum Disorder: A Narrative Review
Insights
Prenatal ultrasound may help identify early Autism Spectrum Disorder (ASD) risk by detecting fetal anomalies. However, these markers are not specific and require integration with other data for accurate diagnosis.
Area of Science:
- Neurodevelopmental Disorders
- Medical Imaging
- Biomarkers
Background:
- Autism Spectrum Disorder (ASD) prevalence is rising globally, necessitating earlier detection for effective intervention.
- Current diagnostic methods for ASD often lead to delays in identification.
- Prenatal ultrasound-detectable anomalies are being explored as potential early predictors for ASD.
Purpose of the Study:
- To review and synthesize existing research on prenatal ultrasound findings associated with Autism Spectrum Disorder.
- To evaluate the potential of these anomalies as early indicators for ASD risk.
Main Methods:
- A comprehensive literature search was performed in PubMed, Scopus, and Google Scholar (2007-2025).
- Keywords included "autism spectrum disorder", "prenatal ultrasound", "fetal anomalies", and "biomarkers".
- Systematic reviews and large cohort studies were prioritized, with findings summarized narratively.
Main Results:
- Associations were found between ASD and anomalies like ventriculomegaly, increased biparietal diameter, hyperechogenic kidneys, and congenital heart defects.
- These findings are not exclusive to ASD and exhibit inconsistent predictive accuracy.
- Wide variations in sensitivity and specificity were noted, alongside ethical considerations.
Conclusions:
- Prenatal ultrasound shows promise for early ASD risk identification but is insufficient for standalone diagnosis.
- Integration with genetic and postnatal data, standardized protocols, and further research are crucial.
- Improved predictive value and clinical utility necessitate a multi-faceted approach.
Background:
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a globally increasing prevalence. Early detection is crucial for effective intervention, yet current diagnostic methods often result in delays. Emerging research suggests that prenatal biomarkers, including structural anomalies detectable via ultrasound, may offer opportunities for earlier identification.
Aim:
To synthesize current evidence on prenatal ultrasound-detectable anomalies associated with ASD and assess their potential as early predictors.
Methods:
A comprehensive literature search was conducted across PubMed, Scopus, and Google Scholar for studies published between 2007 and 2025. Keywords included "autism spectrum disorder", "prenatal ultrasound", "fetal anomalies", "preeclampsia", "neurodevelopment" and "biomarkers". Priority was given to recent and high-quality studies, including systematic reviews and large cohort analyses. The selected articles were read in full, and their key findings were summarized in a narrative form. The synthesis focused on describing the scope of the existing evidence, the prenatal ultrasound findings reported in relation to ASD, and on highlighting recurrent patterns or notable differences between studies.
Results:
Several studies report associations between ASD and prenatal anomalies such as ventriculomegaly, increased biparietal diameter, hyperechogenic kidneys, and congenital heart defects. However, these findings are not specific to ASD and show inconsistent predictive performance. Sensitivity and specificity vary widely across studies, and ethical concerns about overdiagnosis and disparities in access to care persist.
Conclusion:
Prenatal ultrasound may contribute to early ASD risk identification but lacks the accuracy required for standalone diagnosis. Integrating ultrasound findings with genetic and postnatal data, along with standardized protocols and further research, is essential to improve its predictive value and clinical application.
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