Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal diagnosis?
Hong Kong Med J
; 16(6): 427-33, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-21135418
ABSTRACT
OBJECTIVES:
To assess the clinical utility of fluorescence in-situ hybridisation with chromosomes 13, 18, 21, X and Y as a stand-alone test in detecting chromosomal abnormalities, and the types of chromosomal abnormalities missed.DESIGN:
Retrospective analysis.SETTING:
A restructured Government hospital in Singapore and an academic hospital in the United States.PARTICIPANTS:
Cytogenetic data of prenatal specimens and results of fluorescence in-situ hybridisation of 5883 patients performed between January 2000 and August 2007 were reviewed.RESULTS:
Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies.CONCLUSION:
This study does not support fluorescence in-situ hybridisation as a stand-alone test. Institutions supporting fluorescence in-situ hybridisation as a stand-alone test must seriously consider the risks of a missed diagnosis.
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Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Hibridación Fluorescente in Situ
/
Aneuploidia
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Año:
2010
Tipo del documento:
Article