Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

Haratz, Karina Krajden; Birnbaum, R.; Kidron, Debora; Har‐Toov, J.; Selemnick, Y; Brusilov, M.; Malinger, G.

doi:10.1002/uog.26139

Cited by 8 publications

(4 citation statements)

References 41 publications

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“…However, it is worth noting that fetal MRI is less specific when performed at earlier gestational ages, a period during HME can still be detected using ultrasound. 8 In the specific case of HME, the fetal MRI diagnosis relies on three criteria. First, asymmetry of the cerebral hemispheres due to the overgrowth of only one of them is observed.…”

Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of HME is possible during the second trimester, as early as 16 weeks’ gestation [8], particularly in severe cases when shifting of the midline and ipsilateral ventriculomegaly are detected on prenatal ultrasound [9]. This report describes the ultrasound and MRI findings in a second-trimester fetus presenting with a severe, isolated form of HME.…”

Section: Introductionmentioning

confidence: 99%

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Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review

Sepulveda,

Schonstedt

et al. 2023

Fetal Diagn Ther

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Background: Limited information exists in the prenatal literature regarding the neuroimaging features of fetal hemimegalencephaly. Summary: This report describes ultrasound and magnetic resonance imaging (MRI) findings in a second-trimester fetus with an isolated, severe form of hemimegalencephaly. The most prominent imaging findings included unilateral enlarged cerebral hemisphere and ipsilateral ventriculomegaly causing cerebral asymmetry, midline shift, and macrocephaly. Abnormal cortical development imaging signs were also evident. A literature review encompassing 23 reports describing 36 cases, including ours, is presented. Key Messages: Characteristic ultrasound findings for the diagnosis of hemimegalencephaly are not always apparent prenatally. Asymmetric ventriculomegaly emerges as the most common but nonspecific presenting feature during routine second- or third-trimester ultrasound scans. Subsequent high-resolution prenatal neurosonography and fetal MRI facilitate definitive prenatal diagnosis, showcasting associated features primarily related to cortical migration, differentiation, and maturation. Postnatally, the prognosis is poor due to intractable seizures, hemiplegia, and progressive neurodevelopmental delay.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review

Sepulveda,

Schonstedt

et al. 2023

Fetal Diagn Ther

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“…This result aligns with Tsur et al 25 The phenomenon corresponds to the migration of neocortical neurons, which occurs mostly between the 12th and the 24th weeks of gestation. 26,27 The differences between studies could be attributed to two main factors: 1) limited sample size in previous study; 2) the methodology used to assess the occipitofrontal diameter.…”

Section: Interpretation Of Study Findings and Comparison With Existin...mentioning

confidence: 99%

Disproportion of Corpus Callosum in Fetuses With Malformations of Cortical Development

Jiang,

Zeng,

et al. 2024

J of Ultrasound Medicine

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ObjectiveTo evaluate corpus callosum (CC) size in fetuses with malformations of cortical development (MCD) and to explore the diagnostic value of three CC length (CCL) ratios in identifying cortical abnormalities.MethodsThis is a single‐center retrospective study in singleton fetuses at 20–37 weeks of gestation between April 2017 and August 2022. The midsagittal plane of the fetal brain was obtained and evaluated for the following variables: length, height, area of the corpus callosum, and relevant markers, including the ratios of corpus callosum length to internal cranial occipitofrontal dimension (CCL/ICOFD), corpus callosum length to femur length (CCL/FL), and corpus callosum length to cerebellar vermian diameter (CCL/VD).Intra‐class correlation coefficient (ICC) was used to evaluate measurement consistency. The accuracy of biometric measurements in prediction of MCD was assessed using the area under the receiver‐operating‐characteristics curves (AUC).ResultsFetuses with MCD had a significantly decreased CCL, height (genu and splenium), and area as compared with those of normal fetuses (P < .05), but there was no significant difference in body height (P = .326).The CCL/ICOFD, CCL/FL, and CCL/VD ratios were significantly decreased in fetuses with MCD when compared with controls (P < .05). The CCL/ICOFD ratio offered the highest predictive accuracy for MCD, yielding an AUC of 0.856 (95% CI: 0.774–0.938, P < .001), followed by CCL/FL ratio (AUC, 0.780 (95% CI: 0.657–0.904), P < .001), CCL/VD ratio (AUC, 0.677 (95% CI: 0.559–0.795), P < .01).ConclusionThe corpus callosum biometric parameters in fetuses with MCD are reduced. The CCL/ICOFD ratio derived from sonographic measurements is considered a promising tool for the prenatal detection of cortical malformations. External validation of these findings and prospective studies are warranted.

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“…Current knowledge of normal fetal brain anatomy during early second trimester (EST) primarily relies on autopsy data, [1][2][3][4][5][6] since sonographic descriptions are limited due to the fact that ultrasound is currently performed in most clinical settings at 11-13 weeks or after 18-20 weeks 7 In previous publications, we have described the sonographic characteristics of midline and midbrain-hindbrain development, as well as the diagnosis of malformations of cortical development, during the EST period. [8][9][10][11] Assessment of the parasagittal view of the fetal brain is an integral part of the neurosonographic examination, 7 as it includes both dorsal and ventral brain structures which may be involved in various brain malformations during early stages of development. However, normative data regarding the normal transvaginal US (TVUS) features of this view during EST are lacking.…”

Section: Introductionmentioning

confidence: 99%

The normal 14–18 gestational weeks “parasagittal complex” view of the fetal brain. A 3D transvaginal neurosonographic study

Birnbaum,

Kuperberg,

Brusilov

et al. 2023

Prenatal Diagnosis

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ObjectiveTo study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG).MethodsA retrospective analysis of TVUS 3D volumes of 14–18 gestational weeks (GW) fetuses. Hemispheres were analyzed for wall thickness, choroid plexus extension, GEBG height and length, lamination pattern (intermediate zone and the subplate border, IZ‐SP), ventricle height, width, and angle. Measurements were correlated with GW and assessed for symmetry and impact of probe resolution.ResultsWe included 84 fetuses (168 hemispheres). The CP location is variable at 14–16 GW, becoming consistently and symmetrically posterior at 18 GW. Hemispheric thickness, GEBG height and length grow significantly with fetal age, whereas ventricle height, width, and angle regress. The detection rate of the IZ‐SP line at 14, 15, 16, 17, and 18 weeks was 0%, 24%, 78.26%, 100%, and 100%, respectively. The ratio between the upper and lower segments of the cerebral lamination grows with GW. For all brain structures, the asymmetry between sides was significant only for ventricular height. The transducer type did not have a significant effect on any outcome except for ventricle height.ConclusionThese normal features of the parasagittal view should aid clinicians in fetal brain assessment during the early weeks of the second trimester.

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Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

Cited by 8 publications

References 41 publications

Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review

Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review

Disproportion of Corpus Callosum in Fetuses With Malformations of Cortical Development

The normal 14–18 gestational weeks “parasagittal complex” view of the fetal brain. A 3D transvaginal neurosonographic study

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