Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 419-424, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879594
ABSTRACT
Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estados Unidos
/
Discapacidades del Desarrollo
/
Aberraciones Cromosómicas
/
Cromosomas
/
Análisis por Micromatrices
/
Variaciones en el Número de Copia de ADN
/
Discapacidad Intelectual
Tipo de estudio:
Guía de Práctica Clínica
/
Revisiones Sistemáticas Evaluadas
Límite:
Niño
/
Humanos
País/Región como asunto:
America del Norte
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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