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The Postnatal outcomES of Fetal Cortical mAlformations (PESCA) Study: A Multicentre Historical Cohort Study
Natalia Abadia-Cuchi1,2, Francesca Felici3, Sophie Arulkumaran4
1Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.
Insights
This study classified fetal malformations of cortical development (MCD) and found over half of liveborn infants had normal or mild neurodevelopmental outcomes. Prognosis varied by lesion pattern and suspected cause, suggesting better outcomes than previously reported.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Imaging
Background:
- Malformations of Cortical Development (MCD) are a significant cause of neurological impairment in children.
- Current understanding of MCD outcomes is limited by data from symptomatic pediatric cohorts.
- A standardized classification system is needed to better predict neurodevelopmental outcomes.
Purpose of the Study:
- To introduce a novel classification system for fetal malformations of cortical development (MCD).
- To provide further evidence on the neurodevelopmental outcomes associated with fetal MCD.
- To correlate specific etiologies and imaging findings with postnatal outcomes.
Main Methods:
- A multicenter retrospective cohort study involving 118 fetuses diagnosed with MCD.
- Classification based on presumed etiology (genetic, hemorrhage, dysgenesis, infection) and imaging findings (focal, diffuse, mantle, sulcation).
- Postnatal neurodevelopmental outcomes were assessed using international performance scales.
Main Results:
- 52/118 (44%) livebirths, 64/118 (54.2%) terminations of pregnancy.
- Of 46 survivors, 54.3% had normal or mildly delayed neurological development.
- Genetic etiology and reduced sulcation were most common; focal lesions correlated with better outcomes than diffuse hemispheric lesions.
Conclusions:
- This study presents the largest cohort of fetuses with MCD, systematically classified by etiology and imaging.
- Over half of liveborn survivors exhibited normal or mildly abnormal neurodevelopmental outcomes.
- Prognosis is influenced by lesion pattern and suspected etiology, with potentially better outcomes than previously suggested.
Objectives:
To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system.
Design:
Multicentre retrospective cohort study.
Setting:
Fetal medicine units of three tertiary centres in the United Kingdom and Italy.
Population:
118 foetuses diagnosed with MCD by ultrasound and/or magnetic resonance imaging included.
Methods:
The cases were classified according to their presumed aetiology (genetic, haemorrhage, dysgenesis, infection) and imaging findings (focal, diffuse, mantle, sulcation). Neurodevelopmental delay was classified as mild, moderate or severe. Cases with missing information on postnatal outcome were excluded.
Main Outcome Measures:
Postnatal neurodevelopmental outcome ascertained from the infant's neurological assessments according to international performance scales, depending on the age.
Results:
There were 52/118 (44%) livebirths, 64/118 (54.2%) terminations of pregnancy (TOP) and 2/118 (1.6%) intrauterine demises. Twenty-five of 46 cases (54.3%, 95% CI 39-69.1) that survived the neonatal period had a normal or mildly delayed neurological development. The commonest aetiology was genetic, and the most frequent radiological finding was reduced sulcation. The best neurological outcome was found in children with focal lesions; those with diffuse hemispheric lesions had the worst one.
Conclusion:
This is the largest cohort of foetuses diagnosed with MCDs systematically classified by aetiology and radiological findings. In this retrospective cohort of liveborn survivors, over half had normal or mildly abnormal neurodevelopmental outcomes. Prognosis varied according to lesion pattern and suspected aetiology. Fetal MCDs in this study had better neurodevelopmental outcomes than previously reported, though findings should be interpreted with caution given selection and follow-up limitations.
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