BACKGROUND: Malformations 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.
METHODS: The 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.
RESULTS: Pathogenic 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).
CONCLUSIONS: The 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.

UNASSIGNED: Magnetic resonance imaging (MRI) has been used increasingly as an adjunct examination to ultrasound (US) for the evaluation of fetal anomalies. The purpose of this study was to determine whether the accuracy and confidence of diagnosing fetal vertebral anomalies are improved with MRI. We also assessed whether fetal MRI provides additional information when diagnosing fetal vertebral anomalies.
UNASSIGNED: We performed a single-center, retrospective study of 127 pregnant women with fetuses suspected of having vertebral anomalies on US examination; women also underwent fetal MRI scanning. Comparisons of diagnostic accuracy and confidence were made between MRI and US for the identification of fetal vertebral anomalies. We also assessed any additional information provided by MRI. McNemar\'s paired binomial test, chi-square test, or Fisher\'s exact test were used to compare the diagnostic ability between MRI and US. In all cases, postnatal or postmortem imaging findings were used as reference standards.
UNASSIGNED: A total of 127 participants were recruited between December 2015 and January 2021. Fetal vertebral anomalies were detected in 63.8% (81/127) cases and found to be negative in 36.2% (46/127) of cases at follow up. The diagnostic accuracy of vertebral anomalies was 46.9% (38/81) for US and 84.0% (68/81) for MRI [difference, 37.1%; 95% confidence interval (CI): 27% to 48%; P<0.001]. Both MRI and US were concordant and correct in 36.2% (46/127) of fetuses; MRI provided additional information for 16.5% (21/127) of fetuses, and corrected US diagnoses of 36.2% (46/127) of fetuses; both MRI and US were not consistent with postnatal findings in 10.2% (13/127) of fetuses, and the remaining fetus (0.8%, 1/127) was diagnosed correctly using US but failed to be diagnosed by MRI. Diagnoses were reported with high confidence using MRI in 95.3% (121/127) of cases and 73.2% (93/127) using US.
UNASSIGNED: Fetal vertebral MRI improves the accuracy and confidence of diagnosing fetal vertebral anomalies. This finding indicates that fetal MRI supplements the information provided by US and that MRI may be a good complement in selected fetuses, when US can either not achieve a definite diagnosis or there is doubt regarding its reliability. Thus, MRI may be used to inform prenatal counseling and management decisions.