Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis.
OBJECTIVE
The purpose of this study was to determine the positive predictive value (PPV) and negative predictive value (NPV) of FISH analysis and to determine which chromosomal abnormalities are most frequently confirmed.


METHODS
Prospective observational.


METHODS
IVF laboratory.


METHODS
Two hundred forty-one embryos were analyzed from 98 patients.


METHODS
FISH reanalysis.


METHODS
Embryos that would have been discarded in patients undergoing preimplantation genetic diagnosis (PGD) were fixed and FISH reanalysis was performed. Results of reanalysis were compared with the day 3 diagnosis while PPV and NPV were calculated.


RESULTS
Among the 241 embryos, 198 embryos were abnormal and 43 were normal by day 3 FISH analysis. The PPV was 83% and the NPV was 81%. PPV was also determined for specific categories of aneuploidy, and certain abnormalities such as monosomies, trisomies, tetrasomies, and polyploidies were frequently confirmed on reanalysis (PPV >80%), whereas Turner syndrome diagnosis was not (PPV = 17%).


CONCLUSIONS
FISH analysis offers a PPV of 83% and NPV of 81% when evaluating a single blastomere in conjunction with PGD. FISH errors and mosaicism are primarily responsible for the errors associated with FISH analysis in PGD.
DeUgarte
Catherine M
CM
Pacific Fertility Center, Los Angeles, California 90024, USA. cmdeugarte@hotmail.com
Li
Man
M
Surrey
Mark
M
Danzer
Hal
H
Hill
David
D
DeCherney
Alan H
AH
D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000196:embryology* / Q000235:genetics*; D002874:Chromosome Mapping / Q000706:statistics & numerical data*; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000706:statistics & numerical data*; D008297:Male; D019836:Preimplantation Diagnosis / Q000706:statistics & numerical data*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity