Advanced molecular technologies for the diagnosis of congenital malformation in neonates / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 960-964, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-345671
ABSTRACT
Congenital malformation is one of the most frequent causes of infant death in western countries and major cities in China. Though genetic screening of newborns remains a hot issue and concern, the mortality rate associated with birth defects has not been significantly reduced over the past 20 years. Many genetic diseases manifest symptoms during the first 28 days of life, but full clinical symptoms might not be evident in newborns. Moreover, genetic aberrations is highly heterogeneous. These complicated factors lead to the establishment of diagnosis based on nonspecific or obscure symptoms. Recently developed array comparative genomic hybridization (CGH) and next generation sequencing (NGS) techniques with efficient high-resolution allow to screening of the entire genome for DNA copy number variants and sequencing respectively. These new and powerful tools can shorten the differential diagnosis process and quicken to movement towards targeted treatment and genetic and prognostic counseling.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Anomalías Congénitas
/
Análisis de Secuencia de ADN
/
Diagnóstico
/
Hibridación Genómica Comparativa
/
Variaciones en el Número de Copia de ADN
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2013
Tipo del documento:
Artículo
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