Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay.
Prenat Diagn
; 33(1): 25-31, 2013 Jan.
Article
en En
| MEDLINE
| ID: mdl-23138848
ABSTRACT
OBJECTIVE:
Chromosome analysis is the traditional method for detecting genetic abnormalities in products of conception, but it is prone to a high failure rate because of the requirement for cell culture. Molecular genetic tests do not require cell culture, but are either more expensive (e.g. chromosomal microarray) or less sensitive than chromosome analysis (e.g. fluorescence in situ hybridization, multiplex ligation mediated amplification). The KaryoLite™ BACs-on-Beads™ (KL-BoBs™) assay is highly multiplexed with low resolution coverage and is designed to detect aneusomy for any chromosome.METHODS:
We retrospectively tested 100 products of conception samples previously characterized by karyotype (n = 90), and/or microarray (n = 61) using KL-BoBs™. We included samples extracted from either cultured or direct specimens from placental villi or fetal somatic tissue, with a variety of chromosomal abnormalities typically identified in our clinical cytogenetics laboratory.RESULTS:
KL-BoBs™ and microarray results were concordant for all cases of aneusomy. On the basis of a review of 3794 consecutive cases in our laboratory, aneusomy accounts for 74.3% of abnormalities detected. Polyploidy and structural abnormalities were not detected by KL-BoBs™.CONCLUSION:
KL-BoBs™ is potentially very useful as a first line test for aneusomy detection because of its lower cost, rapid detection, and ability to generate a molecular karyotype for samples that fail to grow in culture.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Aborto Espontáneo
/
Aberraciones Cromosómicas
/
Análisis por Micromatrices
/
Cariotipificación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
Límite:
Female
/
Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos