Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Marcato, Livia; Turolla, Licia; Pompilii, Eva; Dupont, Céline; Gruchy, Nicolas; Toffol, Simona De; Bracalente, Gabriella; Bacrot, Séverine; Troilo, Enzo; Tabet, Anne Claude; Rossi, Sabrina; Delezoïde, Anne Lise; Baldo, Demetrio; Leporrier, Nathalie; Maggi, Federico; Molin, Arnaud; Pilu, Gianluigi; Simoni, Giuseppe; Vialard, François; Grati, Francesca Romana

doi:10.1002/ccr3.48

Cited by 21 publications

(23 citation statements)

References 35 publications

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“…Deletion of chromosome 3q29 region encompasses 22 genes, two of them ( PAK2 and DGL1 ) autosomal homologues of known X-linked genes associated with clinical features including intellectual disability, microcephaly, and mild dysmorphisms [19] . The prenatal diagnosis of the Williams-Beuren syndrome is even more challenging because only few phenotypic features can be investigated by fetal ultrasound, although FGR is present in most of them [20] . Finally, the haploinsufficiency due to terminal 15q26.2 deletion encompassing the IGF1R gene has been described to result in prenatal and postnatal growth failure, similarly to heterozygous mutation of the IGF1R gene [21,22] .…”

Section: Discussionmentioning

confidence: 99%

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study

et al. 2016

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Background: Little information is available about the risk of microdeletion and microduplication syndromes in fetal growth restriction (FGR) with a normal karyotype. Objective: To assess the incremental yield of genomic microarray over conventional karyotyping in fetuses with early growth restriction. Study Design: Genomic microarray was prospectively performed in fetuses with early growth restriction defined as a fetal weight below the 3rd percentile estimated before 32 weeks of pregnancy, and a normal quantitative fluorescent polymerase chain reaction result. The incremental yield of genomic microarray was defined by the rate of fetuses presenting with a pathogenic copy number variant below 10 Mb. Results: Among 133 fetuses with early FGR, a 6.8% (95% CI: 2.5-11.0) incremental yield of genomic microarray over karyotyping was observed. This incremental yield was 4.8% (95% CI: 0.2-9.3) in isolated FGR, 10% (95% CI: 0-20.7) in FGR with nonstructural anomalies, and 10.5% (95% CI: 0-24.3) in FGR with structural anomalies. Conclusion: Our multicenter study reveals that 6.8% of fetuses with early growth restriction present with submicroscopic anomalies after common aneuploidies were excluded. Even when FGR is observed as an isolated finding, genomic microarray analysis should be considered after or instead of karyotyping, due to its 4.8% incremental yield.

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Section: Discussionmentioning

confidence: 99%

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study

et al. 2016

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“…The prenatal phenotypes of Williams–Beuren syndrome and its reciprocal duplication have recently been described, but their prevalences were still unknown. In the present study, we found an incidence of 1:1156 (2/2311; 95%CI: 1/317–1/4213) for the microdeletion and of 1/2311 (95%CI: 1/409–1/13 091) for the microduplication in the high‐risk population.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Grati¹,

et al. 2015

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The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

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“…Finally, Williams-Beuren syndrome is a multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies, cognitive and developmental anomalies, and connective tissue anomalies. Although prenatal diagnosis of this syndrome cannot be easily performed because only few of the phenotype features can be detected by ultrasound, FGR was present in most of the prenatal reports of this syndrome [26]. Interestingly enough, these three recurrent CNVs account for more than half of those found in nonmalformed fetuses with growth restriction, achieving a 2.4% prevalence in those fetuses.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis

Borrell¹,

Grande²,

Pauta³

et al. 2017

Fetal Diagn Ther

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Objective: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). Methods: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included. Case reports were excluded. Risk differences were pooled to estimate the overall and stratified CMA incremental yield. Results: Ten studies with full data available met the inclusion criteria for analysis. Combined data from these studies revealed a 4% (95% confidence interval [CI] 1-6%) incremental yield of CMA over karyotyping in nonmalformed growth-restricted fetuses, and a 10% (95% CI 6-14%) incremental yield in FGR when associated with fetal malformations. The most frequently found pathogenic CNVs were 22q11.2 duplication, Xp22.3 deletion, and 7q11.23 deletion (Williams-Beuren syndrome), particularly in isolated FGR. Conclusion: The use of genomic CMA provides a 4% incremental yield of detecting pathogenic CNVs in fetuses with isolated growth restriction and normal karyotype.

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Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Cited by 21 publications

References 35 publications

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis

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