Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally

Thorup, E.; Jensen, Line; Bak, Geske S.; Ekelund, Charlotte Kvist; Greisen, Gorm; Jørgensen, Dan Richter; Hellmuth, Signe Gade; Wulff, C. B.; Petersen, Olav Bjørn; Pedersen, Lars Henning; Tabor, Ann

doi:10.1002/uog.20111

Cited by 37 publications

(34 citation statements)

References 31 publications

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“…The incidence of neurodevelopmental delay is 7.9–12% in IMVM fetuses 29 . IMVM has been correlated with NDDs, including autism spectrum disorder (ASD), attention deficit disorder, and learning disability in childhood as well as fetal or neonatal death 30 . Interestingly, the CNVs with clinically significant findings in groups I, II, and III were mostly associated with NDDs.…”

Section: Discussionmentioning

confidence: 99%

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Xue

Lin

et al. 2021

Sci Rep

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Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly—with or without other ultrasound anomalies—and chromosome abnormalities. 222 fetuses were divided into four groups: (I) 103 (46.4%) cases with isolated ventriculomegaly, (II) 41 (18.5%) cases accompanied by soft markers, (III) 33 (14.9%) cases complicated with central nervous system (CNS) anomalies, and (IV) 45 (20.3%) cases with accompanying anomalies. Karyotyping and single nucleotide polymorphism (SNP) array were used in parallel. Karyotype abnormalities were identified in 15/222 (6.8%) cases. Karyotype abnormalities in group I, II, III, and IV were 4/103 (3.9%), 2/41 (4.9%), 4/33 (12.1%), and 5/45 (11.1%), respectively. Concerning the SNP array analysis results, 31/222 (14.0%) were CNVs, CNVs in groups I, II, III, and IV were 11/103 (10.7%), 6/41 (14.6%), 9/33 (27.3%), and 5/45 fetuses (11.1%), respectively. Detections of clinical significant CNVs were higher in non-isolated ventriculomegaly than in isolated ventriculomegaly (16.81% vs 10.7%, P = 0.19). SNP arrays can effectively identify CNVs in fetuses with ventriculomegaly and increase the abnormal chromosomal detection rate by approximately 7.2%, especially ventriculomegaly accompanied by CNS anomalies.

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Section: Discussionmentioning

confidence: 99%

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Xue

Lin

et al. 2021

Sci Rep

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“…Even when isolated, VM has been reported to increase the risk of neurodevelopmental delay in childhood and adolescence. The prevalence of neurodevelopmental disorders in fetuses with both unilateral and bilateral mild VM has been reported to be only slightly higher than that in the general population 17–19 . Conversely, the rate of neurodevelopmental delay is higher in cases of VM associated with additional CNS anomalies and in cases of severe ventricular atrial dilatation 20–22 .…”

Section: Discussionmentioning

confidence: 99%

Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study

Mascio¹,

Khalil²,

Thilaganathan³

et al. 2020

Ultrasound in Obstet & Gyne

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Objectives To assess the role of fetal magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses presenting with mild or moderate isolated ventriculomegaly (VM) undergoing multiplanar ultrasound evaluation of the fetal brain. Methods This was a multicenter, retrospective, cohort study involving 15 referral fetal medicine centers in Italy, the UK and Spain. Inclusion criteria were fetuses affected by isolated mild (ventricular atrial diameter, 10.0–11.9 mm) or moderate (ventricular atrial diameter, 12.0–14.9 mm) VM on ultrasound, defined as VM with normal karyotype and no other additional central nervous system (CNS) or extra‐CNS anomalies on ultrasound, undergoing detailed assessment of the fetal brain using a multiplanar approach as suggested by the International Society of Ultrasound in Obstetrics and Gynecology guidelines for the fetal neurosonogram, followed by fetal MRI. The primary outcome of the study was to report the incidence of additional CNS anomalies detected exclusively on prenatal MRI and missed on ultrasound, while the secondary aim was to estimate the incidence of additional anomalies detected exclusively after birth and missed on prenatal imaging (ultrasound and MRI). Subgroup analysis according to gestational age at MRI (< 24 vs ≥ 24 weeks), laterality of VM (unilateral vs bilateral) and severity of dilatation (mild vs moderate VM) were also performed. Results Five hundred and fifty‐six fetuses with a prenatal diagnosis of isolated mild or moderate VM on ultrasound were included in the analysis. Additional structural anomalies were detected on prenatal MRI and missed on ultrasound in 5.4% (95% CI, 3.8–7.6%) of cases. When considering the type of anomaly, supratentorial intracranial hemorrhage was detected on MRI in 26.7% of fetuses, while polymicrogyria and lissencephaly were detected in 20.0% and 13.3% of cases, respectively. Hypoplasia of the corpus callosum was detected on MRI in 6.7% of cases, while dysgenesis was detected in 3.3%. Fetuses with an associated anomaly detected only on MRI were more likely to have moderate than mild VM (60.0% vs 17.7%; P < 0.001), while there was no significant difference in the proportion of cases with bilateral VM between the two groups (P = 0.2). Logistic regression analysis showed that lower maternal body mass index (adjusted odds ratio (aOR), 0.85 (95% CI, 0.7–0.99); P = 0.030), the presence of moderate VM (aOR, 5.8 (95% CI, 2.6–13.4); P < 0.001) and gestational age at MRI ≥ 24 weeks (aOR, 4.1 (95% CI, 1.1–15.3); P = 0.038) were associated independently with the probability of detecting an associated anomaly on MRI. Associated anomalies were detected exclusively at birth and missed on prenatal imaging in 3.8% of cases. Conclusions The incidence of an associated fetal anomaly missed on ultrasound and detected only on fetal MRI in fetuses with isolated mild or moderate VM undergoing neurosonography is lower than that reported previously. The large majority of these anomalies are difficult to detect on ultrasound. The findings fr...

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“…We ensured that all fetuses with other structural abnormalities were excluded and that no single false-negative prenatal diagnosis occurred in our study, which was proven by cranial ultrasonography after birth. Another possible reason is that we followed the participants up to 18 months; however, neurodevelopmental disorders reported in previous research, including autism spectrum disorder and epilepsy 23 , may require a longer follow-up time for diagnosis. Moreover, the sample size of our study was too small to illustrate the incidence of neurodevelopmental disorders in IMVM fetuses with asymmetric cortical maturation, which is also a limitation of our study.…”

Section: Discussionmentioning

confidence: 99%

Cortical Development Assessed by Ultrasound in Fetuses with Isolated Mild Fetal Ventriculomegaly: Asymmetric Cortical Growth, 'catch-up growth' Pattern and Postnatal Neurodevelopment Outcome

Zhu

Chen

Hou

et al. 2020

Preprint

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Background: Assessment of cortical development and identifying factors that may result in a poor prognosis for fetuses with isolated mild ventriculomegaly (IMVM) is a hot research topic. We aimed to perform a constant detailed assessment of cortical development in IMVM fetuses by ultrasound and determine whether asymmetric cortical development occurs in IMVM fetuses. Moreover, we aimed to estimate the prognosis of IMVM fetuses and compare the difference of prognosis of IMVM fetuses with symmetric and asymmetric cortical maturation.Methods: IMVM was diagnosed by regular ultrasound, neurosonography, fetal MRI, and genetic and TORCH examinations. Ultrasound examinations were carried out with an interval of 2-3 weeks to record sulcus development in IMVM fetuses using a scoring system. The neonatal behavioral neurological assessment (NBNA), the Ages and Stages Questionnaire, Third Edition (ASQ-3) and the Bayley Scales of Infant Development (BSID-I) were used after birth.Results: Forty IMVM fetuses were included, twenty showed asymmetric cortical maturation, and twenty showed symmetric cortical maturation. The mean gestational age (GA) at the first diagnosis of relatively delayed development was 24.23weeks for the parieto-occipital sulcus, 24.71weeks for the calcarine sulcus, and 26.43weeks for the cingulate sulcus. The mean GA that two sides developed to the same grade was 29.40weeks for the parieto-occipital sulcus, 29.30weeks for the calcarine sulcus and 31.27weeks for the cingulate sulcus. The NBNA, ASQ-3 and BSID-I scores of all patients were in the normal range.Conclusion: IMVM fetuses may show mild asymmetric cortical maturation in the second trimester, but the relatively delayed sulci would undergo 'catch-up growth'. The neurodevelopment of IMVM fetuses with asymmetric cortical maturation and 'catch-up growth' is not statistically significantly different from that of IMVM fetuses with symmetric cortical maturation.

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Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally

Cited by 37 publications

References 31 publications

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study

Cortical Development Assessed by Ultrasound in Fetuses with Isolated Mild Fetal Ventriculomegaly: Asymmetric Cortical Growth, 'catch-up growth' Pattern and Postnatal Neurodevelopment Outcome

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