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Postnatal outcome of fetal cortical malformations: systematic review
N Abadia-Cuchi1,2, F Felici1,3, P Frassanito3
1Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.
Insights
Parental counseling for fetal malformations of cortical development (MCD) is challenging due to limited postnatal data. This review found that about one-third of liveborn infants with MCD showed normal or mild neurodevelopmental delay, suggesting potential overdiagnosis of severity.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Imaging
Background:
- Parental counseling for fetal malformations of cortical development (MCD) relies on postnatal data, which may not accurately reflect prenatal diagnoses.
- Existing studies often focus on children and adults with abnormal neurodevelopment, limiting applicability to prenatal cases.
Purpose of the Study:
- To review existing data on the postnatal neurodevelopmental outcomes for fetuses diagnosed with malformations of cortical development (MCD).
- To assess the accuracy of prenatal diagnosis of MCD severity and its impact on neurodevelopmental outcomes.
Main Methods:
- A comprehensive literature search was performed in PubMed, Web of Science, and EMBASE for studies published between 2013 and 2023.
- Data extraction included participant characteristics, imaging findings, and pregnancy/neonatal outcomes from 30 retrieved articles encompassing 371 cases of fetal MCD.
Main Results:
- Of 371 fetal MCD cases reviewed, most were complex (n=324). Pregnancy outcomes included 144 terminations and 4 stillbirths.
- Postnatal neurodevelopmental data were available for only 30 of 74 live births. Normal outcome was reported in 23.3%, while 76.7% exhibited neurodevelopmental delay.
- Antenatal diagnosis of severity was revised postnatally in 9 cases (complex to isolated MCD), indicating potential overdiagnosis in approximately 5% of cases with known outcomes.
Conclusions:
- The majority of reviewed fetal MCD cases were complex, often leading to pregnancy termination.
- There is a significant lack of data regarding postnatal neurological development in fetuses diagnosed with MCD.
- Available data suggest that approximately one-third of liveborn infants with MCD may have normal or mild neurodevelopmental outcomes, highlighting potential antenatal overestimation of severity.
Objective:
Parental counseling for fetal malformations of cortical development (MCD) is based on data from studies in children and adults undergoing imaging investigation for abnormal neurodevelopment. However, such postnatal findings may not be applicable to prenatally diagnosed cases. The aim of this study was to review the existing data on postnatal neurodevelopmental outcome for fetuses diagnosed with MCD.
Methods:
A literature search was conducted in PubMed, Web of Science and EMBASE for articles published between 2013 and 2023, using standardized keywords to describe fetal cortical malformations. Full-text articles were accessed for the retrieved citations and data on participant characteristics, imaging findings, and pregnancy and neonatal outcomes were extracted. Fetal MCD was defined as either complex or isolated, according to the presence or absence, respectively, of additional brain or extracranial defects.
Results:
Overall, 30 articles including 371 cases of fetal MCD were reviewed. The cases were classified as complex (n = 324), isolated (n = 21) or unknown (n = 26). There were 144 terminations and four stillbirths, with pregnancy outcome unreported in 149 cases. A total of 108 cases had postnatal magnetic resonance imaging or postmortem examination data available. In nine of these cases, a diagnosis of complex fetal MCD was changed to isolated MCD after birth, and one case was found not to have MCD. There were 74 live births, for which postnatal neurodevelopment data were available in only 30 cases. Normal neurodevelopmental outcome was reported in seven (23.3% (95% CI, 9.9-42.2%)) infants, with the remaining 23 exhibiting various levels of neurodevelopmental delay (three mild, seven moderate and 13 severe) from 6 months to 7 years of age.
Conclusions:
Most reviewed cases of fetal MCD were complex in nature and underwent termination of pregnancy. There is a paucity of data on postnatal neurological development in fetuses diagnosed with MCD. The available data suggest antenatal overdiagnosis of case severity in about 5% of cases with known outcome, and either normal neurodevelopment or mild neurodevelopmental delay in approximately one-third of liveborn cases with neurological follow-up. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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