Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Mol Genet Genomic Med
; 6(2): 200-212, 2018 03.
Article
en En
| MEDLINE
| ID: mdl-29368431
ABSTRACT
BACKGROUND:
Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting. METHODS ANDRESULTS:
In this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests. Overall, we identified candidate variants in previously reported cardiac-related genes in 35% (12/34) of the probands. These include clearly pathogenic variants in two of 34 patients (6%) and variants of uncertain significance in relevant genes in 10 patients (26%), of these latter 10, 2 segregated with clinically apparent findings in the family trios.CONCLUSIONS:
These findings suggest that with current knowledge of the proteins underlying CHD, genomic sequencing can identify the underlying genetic etiology in certain patients; however, this technology currently does not have a high enough yield to be of routine clinical use in the screening of pediatric congenital cardiac defects.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cardiopatías Congénitas
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child
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Child, preschool
/
Female
/
Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos