ArticleMolecular genetics & genomic medicine2024
Malformations of cortical development: Fetal imaging and genetics.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Evaluation of stem/stromal cell transplantation safety and efficacy in children diagnosed with cerebral palsy: A systematic review and meta-analysis of randomized controlled trials.Stem cell research & therapy · 2025Pooled it
- Defining a Midgestational Window forbioRxiv : the preprint server for biology · 2026Article
- Genetic Disorders Detectable by Fetal MRI: A Review.Diagnostics (Basel, Switzerland) · 2026Review
- Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.Biomedicines · 2026Review
- Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.Brain communications · 2026Article
- Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.Ultraschall in der Medizin (Stuttgart, Germany : 1980) · 2025Article
- Fetal malformations of cortical development: review and clinical guidance.Brain : a journal of neurology · 2025Review
- Sylvian fissure angle development on fetal MRI: 22-38 gestational weeks.Frontiers in neuroscience · 2025Article
- Malformations of cortical development: Fetal imaging and genetics.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMalformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing. The recent advances in neuroimaging have enabled the in-utero diagnosis of MCD using fetal ultrasound or MRI.
methodsThe present study retrospectively reviewed 32 cases of fetal MCD diagnosed by ultrasound or MRI. Then, the chromosome karyotype analysis, single nucleotide polymorphism array or copy number variation sequencing, and whole-exome sequencing (WES) findings were presented.
resultsPathogenic copy number variants (CNVs) or single-nucleotide variants (SNVs) were detected in 22 fetuses (three pathogenic CNVs [9.4%, 3/32] and 19 SNVs [59.4%, 19/32]), corresponding to a total detection rate of 68.8% (22/32).
conclusionThe results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies.
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