Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study

Ryan, Grace; Start, Alexander O; Cathcart, Barbara; Hughes, Heather; Denona, Branko; Higgins, Shane; Corcoran, Siobhan; Walsh, Jennifer; Carroll, Stephen; Mahony, Rhona; Crimmins, Darach; Caird, John; Robinson, Ian; Colleran, Gabrielle; McParland, Peter; McAuliffe, Fionnuala M.

doi:10.1002/ijgo.14206

Cited by 8 publications

(8 citation statements)

References 30 publications

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“…VM has a variety of causes and all fetuses with VM must be very carefully evaluated for its cause and associated structural abnormalities. It is well established that VM is associated with additional structural abnormalities, with a reported incidence up to 50% [5,9,15,16], which was consistent with 53.7% in our series. A signi cant aggravation of the outcome is recognized in the presence of associated structural malformations of the CNS and/or extra CNS [15,16].…”

Section: Discussionsupporting

confidence: 92%

“…The mean maternal age and the average gestational age at the rst diagnoses of fetal VM cases in our study population are similar to those reported in the literature [5,8,14]. In our series, 53% of the fetal VM cases were diagnosed ≤ 24 weeks' and 7.4% after 32 weeks' gestation.…”

Section: Discussionsupporting

confidence: 89%

“…The incidence is approximately 1% and it occurs in up to 2 per 1000 births [1,2]. The measurement of the atrial diameter (Vp) remains stable between 15-and 40-weeks' gestation [3] The classi cation of VM varies but is generally classi ed into either mild (10-12 mm), moderate (12.1-15 mm) and severe VM (> 15 mm) or mild (10-15mm) and severe VM (> 15 mm) [4,5].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Perinatal Outcome of Fetuses with Ventriculomegaly

Davutoglu,

Arica,

Sahin

et al. 2023

Preprint

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Purpose To assess the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections, and perinatal outcomes of fetuses with ventriculomegaly (VM), also to evaluate the role of fetal magnetic resonance imaging (MRI) in detecting associated intracranial anomalies. Methods Retrospective cohort study of 149 prenatally diagnosed pregnancies with fetal VM. VM was classified as mild (Vp = 10–12 mm), moderate (Vp = 12.1–15 mm), and severe (Vp > 15 mm). Fetal MRI was performed to 97 pregnancies. Results The incidences of an associated CNS, non-CNS, chromosomal anomaly, genetic abnormality and fetal infection were 42.3%, 11.4%, 6.1%, 2.1% and 1.3%, respectively. Fetal MRI identified additional CNS anomalies in 6.7% of cases, particularly in severe VM. The incidences of perinatal outcomes were 18.8% termination of pregnancy, 4% intrauterine and 8.1% neonatal or infant death. The rates of fetuses alive at > 12 months of age with neurological morbidity were 2.6%, 11.1% and 76.9% for mild, moderate and severe isolated VM, respectively. Conclusion The prognosis of fetuses with VM mostly depends on the severity and the associated anomalies. Mild to moderate isolated VM generally have favorable outcomes. Fetal MRI is particularly valuable in fetuses with isolated severe VM.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Perinatal Outcome of Fetuses with Ventriculomegaly

Davutoglu,

Arica,

Sahin

et al. 2023

Preprint

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“…Of the 68 articles remaining for full-text review, 59 articles were excluded due to insufficient number of probands, use of genetic testing other than ES, lack of mention of molecular diagnostic yield, lack of specificity to CH, or overlap of cohort with another included study. At this stage, 10 additional articles [29][30][31][32][33][34][35][36][37][38] were potentially eligible for inclusion but did not report data specific to CH or ventriculomegaly and/or ES yield. Corresponding authors of such articles were contacted via email by 1 of the reviewers (A.B.W.G.)…”

Section: Study Selectionmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Greenberg,

Mehta,

Allington

et al. 2023

JAMA Netw Open

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ImportanceExome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH).ObjectiveTo determine the diagnostic yield of ES in CH and whether ES should be considered as a first line diagnostic test for CHData SourcesPubMed, Cochrane Library, and Google Scholar were used to identify studies published in English between January 1, 2010, and April 10, 2023. The following search terms were used to identify studies: congenital hydrocephalus, ventriculomegaly, cerebral ventriculomegaly, primary ventriculomegaly, fetal ventriculomegaly, prenatal ventriculomegaly, molecular analysis, genetic cause, genetic etiology, genetic testing, exome sequencing, whole exome sequencing, genome sequencing, microarray, microarray analysis, and copy number variants.Study SelectionEligible studies included those with at least 10 probands with the defining feature of CH and/or severe cerebral ventriculomegaly that had undergone ES. Studies with fewer than 10 probands, studies of mild or moderate ventriculomegaly, and studies using genetic tests other than ES were excluded. A full-text review of 68 studies was conducted by 2 reviewers. Discrepancies were resolved by consensus.Data Extraction and SynthesisPreferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Meta-Analysis of Observational Studies in Epidemiology guidelines were used by 2 reviewers to extract data. Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023.Main Outcomes and MeasuresThe primary outcome was pooled diagnostic yield. Additional diagnostic yields were estimated for specific subgroups on the basis of clinical features, syndromic presentation, and parental consanguinity. For each outcome, a 95% CI and estimate of interstudy heterogeneity (I2 statistic) was reported.ResultsFrom 498 deduplicated and screened records, 9 studies with a total of 538 CH probands were selected for final inclusion. The overall diagnostic yield was 37.9% (95% CI, 20.0%-57.4%; I2 = 90.1). The yield was lower for isolated and/or nonsyndromic cases (21.3%; 95% CI, 12.8%-31.0%; I2 = 55.7). The yield was higher for probands with reported consanguinity (76.3%; 95% CI, 65.1%-86.1%; I2 = 0) than those without (16.2%; 95% CI, 12.2%-20.5%; I2 = 0).Conclusions and RelevanceIn this systematic review and meta-analysis of the diagnostic yield of ES in CH, the diagnostic yield was concordant with that of previous recommendations for other neurodevelopmental disorders, suggesting that ES should also be recommended as a routine diagnostic adjunct for patients with CH.

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“…In some cases, the development of VM can be associated with genetic factors, such as chromosomal aberrations and genetic variations, or maternal factors, such as an infection with cytomegalovirus or toxoplasmosis during pregnancy 3 . VM has complex neurodevelopmental outcomes ranging from a normal physiology to serious complications that lead to death, with chromosomal abnormalities or single-gene defects (SGD) associated with a poor prognosis 4 .…”

Section: Introductionmentioning

confidence: 99%

Genetic etiology analysis of 73 fetuses with ventriculomegaly

Chenyue,

Huiqin,

Jingbo

et al. 2024

Preprint

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Objective High-throughput sequencing was performed on 73 fetuses with ventriculomegaly (VM) to analyze the genetic causes, including chromosomal aberrations and genetic variations.Methods The clinical data from fetuses with lateral ventricular width greater than 10 mm in second and third trimester were collected from Shanxi Provincial Children's Hospital between 2020 and 2023. Patient samples included amniotic fluid or miscarriage tissue and were evaluated via copy number variation sequencing (CNV-seq), and those with negative CNV-seq result were further examined using whole exome sequencing (WES), with chromosomal aberrations and genetic variations counted. Statistical analysis was performed using SPSS 26.0, and pregnancy outcomes were followed.Results Of the 73 patients included in the study, 23 (31.5%) cases had chromosomal aberrations with 26 CNV fragments following CNV-seq, including 4 aneuploidies, 12 pathogenic variants, 2 likely pathogenic variants, and 8 variants of unknown significance. The detection rate of chromosomal aberrations was significantly higher in non-isolated VM relative to isolated VM. Negative CNV-seq results (n = 33) were further examined via WES, and a subset (n = 16, 48.48%) contained single-gene defects. These variants included SPATA5, PDHA1, TRIM71, PIK3R2, TUBB, CRB2, PIDD1, RTTN, FGFR3, AIMP1, POGZ, MYH7, CNOT3, MACF1, and PURA, with 9 unreported variant loci also identified.Conclusion VM fetuses have complex developmental outcomes, and thus it is necessary to consider genetic etiology is VM. WES has the potential to provide a genetic diagnosis for VM fetuses without aneuploidy or CNVs, and can thereby increase the fetal VM diagnostic rate.

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Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 8 publications

References 30 publications

Clinical Characteristics and Perinatal Outcome of Fetuses with Ventriculomegaly

Clinical Characteristics and Perinatal Outcome of Fetuses with Ventriculomegaly

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Genetic etiology analysis of 73 fetuses with ventriculomegaly

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