Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China

Zhao, Di; Cai, Ailong; Wang, Bing; Lü, Xiaodan; Meng, Lü

doi:10.1002/mgg3.477

Cited by 11 publications

(4 citation statements)

References 19 publications

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“…SNP array has revealed additional pathogenic causes of NDDs and craniofacial malformations 9 . The risk of chromosomal abnormalities for fetuses with isolated ventriculomegaly (IVM) is high, especially when SVM (which is bilateral and progressive) occurs in the second trimester 10 . Gezer et al 11 reported an 8.6% rate of chromosomal abnormalities in fetuses with IVM.…”

Section: Introductionmentioning

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: Introductionmentioning

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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“…Additionally, the incidence of aneuploidy in fetuses with mild ventriculomegaly (10-15 mm) has been found to be 2.7% by VERGANI et al and 3.8% by PILU et al (VERGANI et al, 1998, PILU et al, 1999. ZHAO et al identified 7.8% of chromosomal abnormalities (including numeric and structural abnormalities) in cases with isolated ventriculomegaly, with trisomy 21 being the most commonly detected chromosomal abnormality (33.3%) (ZHAO et al, 2018). Chromosome (cytogenetic) analysis of the fetuses in these studies was performed after amniocentesis or cordocentesis.…”

Section: Discussionmentioning

confidence: 98%

Association between isolated mild symmetrical ventriculomegaly and fetal chromosomal aberrations

Stamenkovic

Petrović²,

Maksimović

et al. 2021

Genetika

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The identification of mild fetal ventriculomegaly prompts further evaluation focused on determining whether additional structural anomalies, genetic abnormalities or congenital infections are present. The aim of this study is to evaluate the frequency of chromosomal aberrations in fetuses with isolated mild symmetrical ventriculomegaly and determine the risk for a fetus with isolated mild ventriculomegaly to have chromosomal abnormality in a back ground. Additionally, we have performed an evaluation of the chromosomal microarray findings in a series of five fetuses with isolated mild symmetrical ventriculomegaly and a normal karyotype. The retrospective observational study included karyotype evaluation of 102 fetuses with isolated mild symmetrical ventriculomegaly identified at the time of the routine midpregnancy scanning. In five cases array-CGH was performed and the obtained data were compared with the data in the bioinformatics databases. Among fetuses with isolated mild symmetrical ventriculomegaly chromosome aberrations were found in 2 (1,96%) fetuses. In both cases autosomal aneuploidy was detected, and those are trisomy 21 and trisomy 18, respectively. The finding of a mild symmetrical isolated ventriculomegaly on the routine ultrasound fetal exam in the second trimester had low sensitivity, but high specificity and negative predictive value in the prediction of chromosome anomalies. Copy number variants (microduplications/microdeletions) were detected in four cases (80%). A search for the similar variants in NCBI ClinVar, DECIPHER, OMIM and ENSEMBL data bases, revealed that the microdeletions/microduplications detected in four fetuses in our study cannot be related with ventriculomegaly development. Our findings suggest that karyotyping is not justified in fetuses with isolated mild symmetrical ventriculomegaly (10-15 mm), in a low risk population. Therefore, when mild fetal ventriculomegaly is found in a low risk population, additional non-invasive procedures for chromosome aberration screening (such as noninvasive prenatal screening based on cell-free fetal DNA) are recommended, before making the decision to perform invasive diagnostic procedures.

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“…Terry y col. consideran que la ventriculomegalia aislada es un marcador ecográfico de aneuploidías (11) . El riesgo de anomalías cromosómicas para fetos con ventriculomegalia aislada es alto cuando la ventriculomegalia es severa, bilateral, se presenta en la mitad de la gestación y no se resuelve (14) .…”

Section: Caso Clínicounclassified

Ventriculomegalia leve fetal aislada. Comunicación de un caso

Castillo

Martínez

Espinal

et al. 2023

Rev peru ginecol obstet.

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La ventriculomegalia es un marcador del desarrollo cerebral anormal por lo cual es causa de preocupación cuando está presente. Tiene una prevalencia de 0,3 a 1/1000 nacidos vivos y es más frecuente en fetos varones. La ventriculomegalia es definida como el diámetro atrioventricular de los ventrículos laterales mayor o igual a 10 mm. La medida de 10-15 mm constituye la ventriculomegalia leve mientras valores > 15 mm constituye la ventriculomegalia severa. La ventriculomegalia puede ser aislada o estar asociada con otras anomalías incluyendo hallazgos estructurales anormales, anomalías cromosómicas o infecciones prenatales en cerca del 50-84% de los casos. Si la ventriculomegalia es leve y aislada, el resultado más frecuente es la normalidad. La sobrevida de los recién nacidos con ventriculomegalia leve aislada es alta, con reportes del 93-98%. La probabilidad de un neurodesarrollo normal es mayor al 90% y no será diferente al de la población general, por lo cual ante una ventriculomegalia leve aislada, después de una completa evaluación, la gestante debe ser informada que el pronóstico es favorable, y que probablemente el niño será considerado normal. Presentamos un caso de ventriculomegalia leve fetal izquierda aislada detectada en la ecografía prenatal de las 20 semanas, a quien se le realiza controles neurosonográficos seriados, amniocentesis genética y estudio de infecciones prenatales, siendo éstos dos últimos normales y evidenciándose resolución de la ventriculomegalia, así como control post parto dentro de los límites de la normalidad.

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Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China

Abstract: The risk of chromosomal abnormalities for fetuses with isolated VM is high, especially when it is severe, bilateral, the first presence occurs in mid-gestation and is not resolved.

Cited by 11 publications

References 19 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

Association between isolated mild symmetrical ventriculomegaly and fetal chromosomal aberrations

Ventriculomegalia leve fetal aislada. Comunicación de un caso

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