Analysis of cardiac anomalies in VACTERL association

Cunningham, Bridget; Hadley, Donald W.; Hannoush, Hwaida; Meltzer, Andrew C.; Niforatos, Nickie; Pineda-Álvarez, Daniel E.; Sachdev, Vandana; Warren-Mora, Nicole; Solomon, Benjamin D.

doi:10.1002/bdra.23211

Cited by 33 publications

(18 citation statements)

References 24 publications

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“…and vascular ring. 210 Prenatal ultrasound findings VACTERL association is the most commonly recognized, nonchromosomal condition in fetuses with congenital heart defects and extracardiac anomalies (23%). 10 In a European study of 2454 fetal cardiac anomalies, among those with VATERL association (N = 15), complex cardiac anomalies represented one-third, a frequency higher than seen in newborns and children.…”

Section: Postnatal Phenotypementioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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Section: Postnatal Phenotypementioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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“…VACTERL association, which was the most common, has been associated with a variety of heart defects, including BAV and conotruncal defects, but was not typically been associated with AoD in large series of patients. 36 Likewise, Schimke immuno-osseous dysplasia, which was present in two patients in this cohort, has not been routinely associated with AoD, but rather with vascular disease secondary to impaired vascular elastogenesis. 37 Given the single occurrence of the remaining conditions, a direct link is difficult to establish.…”

Section: Discussionmentioning

confidence: 66%

Aortic dilation, genetic testing, and associated diagnoses

Zárate

Sellars

Lepard

et al. 2016

Genetics in Medicine

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“…Recent publications showed association between chromosomal microduplication at 22q11.21 and VACTERL (acronym for Vertebral anomalies, Anorectal malformation, Cardiovascular anomalies, TracheoEsophageal fistula, Renal and/or Radial anomalies and Limb defects) . Here, we present a first‐time prenatally diagnosed fetus carrying a 2‐Mb duplication at 22q11.21 or arr (hg19)22q11.21(18,896,972‐20,959,043)x3 , showing a highly complex heart anomaly consisting of TGA, PA, VSD, and DORV, compatible with VACTERL association . Prieto et al discovered suchlike and reported two cases of supernumerary der22 syndrome, yielding duplication of 11q and phenotypic overlap with VACTERL, including a large secundum artrial septal defect (ASD), VSD, and patent ductus arteriosus (PDA).…”

Section: Discussionmentioning

confidence: 96%

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

2019

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Objective The aim of the study was to assess genotype‐phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI. Methods In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype‐phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Results Fetal genotypes of deletions or duplications in proximal clusters of LCR22s (A‐B) were associated with fetal cardiac anomalies in combination with hypo/aplastic thymus and craniofacial malformations, suggesting a correlation with deleted HIRA. TOF associated with aplastic thymus in combination with renal defects indicated a relevant correlation with TBX1 deletion. Deletions in central LCR22s (B‐D) with the loss of CRKL supposed a trend of genotype‐phenotype correlation with fetal urinary abnormalities. Conclusion Genotype‐phenotype correlation might improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Hence, prenatal screening and counseling is highly enhanced by a combination of fetal molecular genetic analysis, fetal ultrasound, and/or MRI. The implications of these findings remain to be explored.

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Analysis of cardiac anomalies in VACTERL association

Cited by 33 publications

References 24 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

Aortic dilation, genetic testing, and associated diagnoses

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

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