Validation of DNA probes for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) R1

Background Preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) is being employed increasingly by medical centers and private companies. Validation of any clinical assay, particularly one with novel applications such as PGD by FISH, is of critical importance in the cl...

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Bibliographic Details
Published in:Prenatal diagnosis 2006-11, Vol.26 (11), p.1042-1050
Main Authors: Weremowicz, Stanislawa, Sandstrom, Deborah J., Morton, Cynthia C., Miron, Patricia M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA Probes
Female
FISH
Genetic Diseases, Inborn - diagnosis
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization, Fluorescence
Male
Management. Prenatal diagnosis
Medical sciences
PGD
Pregnancy
Pregnancy. Fetus. Placenta
Preimplantation Diagnosis - methods
validation
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Summary:Background Preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) is being employed increasingly by medical centers and private companies. Validation of any clinical assay, particularly one with novel applications such as PGD by FISH, is of critical importance in the clinical setting. This importance is recognized by both the College of American Pathologists (CAP) and the American College of Medical Genetics (ACMG), who recommend validation of FISH assays in the clinical setting. Validation of FISH assays for PGD is especially significant, as only one or two cells (blastomeres) will be available for testing of a given embryo. Methods We have developed validation protocols for a variety of FISH assays, including sex identification, structural chromosomal aneusomy, and aneuploidy screening with the Vysis, Inc., PGT probe panel. Results Our validation results show good individual performance of commercially available probes, and decreasing overall efficiency as the number of probes included in an assay increases. Copyright © 2006 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.1552