Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

Leoncini, Emanuele; Baranello, Giovanni; Orioli, Iêda M.; Anneren, Goeran; Bakker, M.; Bianchi, Fabrizio; Bower, Carol; Canfield, Mark A.; Castilla, Eduardo E.; Cocchi, Guido; Correa, Adolfo; Vigan, Catherine De; Doray, Bérénice; Feldkamp, Marcia L.; Gatt, Miriam; Irgens, Lorentz M.; Lowry, R. Brian; Maraschini, Alice; Donnell, Robert Mc; Morgan, Margery; Mutchinick, Osvaldo M.; Poetzsch, Simone; Riley, Merilyn; Ritvanen, Annukka; Gnansia, Élisabeth; Scarano, Gioacchino; Šípek, A; Tenconi, Romano; Mastroiacovo, Pierpaolo

doi:10.1002/bdra.20479

Cited by 85 publications

(70 citation statements)

References 29 publications

(32 reference statements)

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“…They corresponded to holoprosencephaly (HPE) (25 fetuses) and corpus callosum agenesis (CCA) (17 fetuses). For HPE, the prevalence of TOP was of 1.6/1000 LB, in agreement with previous reports 7–9…”

Section: Resultssupporting

confidence: 92%

Prevalence and timing of pregnancy termination for brain malformations

Rouleau

Gasner

Bigi

et al. 2011

Archives of Disease in Childhood - Fetal and Neonatal Edition

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By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.

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Section: Resultssupporting

confidence: 92%

Prevalence and timing of pregnancy termination for brain malformations

Rouleau

Gasner

Bigi

et al. 2011

Archives of Disease in Childhood - Fetal and Neonatal Edition

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“…Holoprosencephaly (HPE, OMIM 236100) is the most common developmental forebrain anomaly in humans, with an incidence in liveborns of approximately 1 in 8,000 (Leoncini et al 2008;Muenke and Beachy 2001) and in conceptuses as high as 1 in 250 (Matsunaga and Shiota 1977). HPE results from incomplete cleavage of the prosencephalon into hemispheres.…”

Section: Introductionmentioning

confidence: 99%

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

et al. 2010

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Holoprosencephaly (HPE) is the most common developmental forebrain anomaly in humans. Both environmental and genetic factors have been identified to play a role in the HPE phenotype. Previous studies of the genetic bases of HPE have taken a phenotype-first approach by examining groups of patients with HPE for specific mutations or deletions in known or candidate HPE genes. In this study, we characterized the presence or absence of HPE or a microform in 136 individuals in which microarray-based comparative genomic hybridization (aCGH) identified a deletion of one of 35 HPE loci. Frank holoprosencephaly was present in 11 individuals with deletions of one of the common HPE genes SHH, ZIC2, SIX3, and TGIF1, in one individual with a deletion of the HPE8 locus at 14q13, and in one individual with a deletion of FGF8, whereas deletions of other HPE loci and candidate genes (FOXA2 and LRP2) expressed microforms of HPE. Although individuals with deletions of other HPE candidates (DISP1, LSS, HHIP, SMO, BMP4, CDON, CDC42, ACVR2A, OTX2, and WIF1) had clinically significant features, none had frank HPE or a microform. A search for significant aCGH findings in individuals referred for testing for HPE revealed a novel association of a duplication involving GSK3B at 3q13.33 with HPE or a microform, seen in two unrelated individuals.

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“…Best estimates of prevalence of major birth defects, based on international data, are important to serve as a reference point for the evaluation of individual, regional, or national surveillance programs and to identify geographical regions of higher or lower than expected prevalence (Leoncini et al, 2008;Cocchi et al, 2010). Investigation of geographical differences may also provide an insight into the underlying etiology of EA.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of esophageal atresia among 18 international birth defects surveillance programs

Nassar

Leoncini²,

Amar³

et al. 2012

Birth Defects Research

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135

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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

Abstract: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses.

Cited by 85 publications

References 29 publications

Prevalence and timing of pregnancy termination for brain malformations

Prevalence and timing of pregnancy termination for brain malformations

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

Prevalence of esophageal atresia among 18 international birth defects surveillance programs

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