Congenital heart disease and aneuploidy

Wimalasundera, R.; Gardiner, Helena M.

doi:10.1002/pd.1068

Cited by 70 publications

(43 citation statements)

References 61 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…20 The major aneuploidies compatible with postnatal life are traditionally associated with certain types of CHD: Down syndrome/trisomy 21 (atrioventricular canal defect), Edward syndrome/trisomy 18 (ventricular septal defect or VSD, pulmonary stenosis), Patau syndrome/trisomy 13 (VSD, atrial septal defect, transposition of the great arteries or TGA), Turner syndrome/monosomy X (coarctation of the aorta, aortic stenosis, VSD), and Klinefelter syndrome/XXY (Ebstein anomaly, TOF). 26 It is important to note however that a broad spectrum of CHD has been observed within each of these syndromes.…”

Section: Context: Early Studies Of Chromosomal Imbalances In Chdmentioning

confidence: 99%

The importance of copy number variation in congenital heart disease

Costain

Silversides

2016

npj Genomic Med

View full text Add to dashboard Cite

Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD. These include de novo and inherited variants at established (chromosome 22q11.2), emerging (chromosome 1q21.1), and novel loci across the genome. Variable expression of rare CNVs provides support for the notion of a genetic spectrum of CHD that crosses traditional anatomic classification boundaries. Clinical genetic testing using genome-wide technologies (e.g., chromosomal microarray analysis) is increasingly employed in prenatal, paediatric and adult settings. CNV discoveries in CHD have translated to changes to clinical management, prognostication and genetic counselling. The convergence of findings at individual gene and at pathway levels is shedding light on the mechanisms that govern human cardiac morphogenesis. These clinical and research advances are helping to inform whole-genome sequencing, the next logical step in delineating the genetic architecture of CHD.

show abstract

Section: Context: Early Studies Of Chromosomal Imbalances In Chdmentioning

confidence: 99%

The importance of copy number variation in congenital heart disease

Costain

Silversides

2016

npj Genomic Med

View full text Add to dashboard Cite

show abstract

“…Although the aneuploid rates of pulmonary stenosis are only 5% [20], our case was proven to have a chromosomal abnormality. It is likely that the presence of another cardiac defect, ventricular dilatation, in our case might, at least in part, be associated with such a chromosomal disorder.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

et al. 2009

View full text Add to dashboard Cite

Pallister-Killian syndrome (PKS), which is also referred to as tetrasomy 12p, was first described by Pallister [1], and later by . This rare chromosomal anomaly is characterized by tissue-specific mosaicism for a supernumerary isochromosome for the short arm of Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++) [16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography. (Korean J Lab Med 2009;29:366-70)

show abstract

“…As a result, CHD are not a rare finding when performing routine ultrasound examinations during pregnancy. The establishment of their etiology may be complicated in some cases, especially in the absence of positive family and pregnancy histories (Wimalasundera and Gardiner, 2004;Bellucco et al, 2010).…”

Section: Introductionmentioning

confidence: 99%