ArticleJournal of medical genetics1997
Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Transcription factor pathways and congenital heart disease.Current topics in developmental biology · 2012Review
- Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.Pediatric cardiology · 2010Article
- Three- and four-dimensional ultrasound in the diagnosis of fetal tetralogy of fallot with absent pulmonary valve and microdeletion 22q11.Pediatric cardiology · 2010Article
- Prenatal diagnosis of complete atrioventricular septal defect: perinatal and neonatal outcomes.Obstetrics and gynecology international · 2009Article
- 22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease.Journal of clinical laboratory analysis · 2006Article
- Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.Heart (British Cardiac Society) · 1999Article
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Authors and funding
4 authors.
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Abstract
We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.
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