The Postnatal outcomES of fetal Cortical mAlformations (PESCA) study: a multicentre historical cohort study

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Objectives : To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic pediatric cohorts, providing a new classification system. Design: Multicenter retrospective cohort study. Setting: Fetal medicine units of three tertiary centers in United Kingdom and Italy. Population: 118 fetuses diagnosed with MCD by ultrasound and/or magnetic resonance imaging included. Methods : The cases were classified according to their presumed etiology (genetic, hemorrhage, dysgenesis, infection) and imaging findings (focal, diffuse, mantle, sulcation). Neurodevelopmental delay was classified as mild, moderate or severe. Cases with missing information on pregnancy or 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 (44%) livebirths, 64 (54.2%) terminations of pregnancy (TOP) and two (1.6%) intrauterine demises . 24 of 46 cases (54.3 %, 95% CI 39.01 -79.10) that survived the neonatal period had a normal or mildly delayed neurological development. The commonest etiology was genetic and the most frequent radiological finding was reduced sulcation. The best neurological outcome was found in children with focal lesions, and those with diffuse hemispheric lesions had the worst one. Conclusion: This is the largest cohort of fetuses diagnosed with MCDs systematically classified using etiology and radiological findings. Fetal MCDs have a better than previously expected postnatal neurodevelopmental outcome that is related to both the etiological classification and radiological findings: these results should be considered when counselling for a prenatal diagnosis of MCD.

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