Improving FISH diagnosis for preimplantation genetic aneuploidy screening. 2010

P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
PGD Unit, Institut Universitari IVI-Valencia, Plaza Policía Local, 3, 46015 Valencia, Spain. pmir@ivi.es

BACKGROUND In our routine programme of preimplantation genetic aneuploidy screening (PGS) by fluorescence in situ hybridization (FISH), nine chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) are analysed in two consecutive hybridization rounds. We also perform additional hybridization rounds for these chromosomes, using probes that bind to different loci, for non-conclusive results and for confirmation of certain aneuploidies. The aim of this study was to evaluate the impact of additional hybridization rounds on FISH accuracy. METHODS This is a retrospective analysis of our FISH data from 1000 PGS cycles performed from December 2007 to December 2008 for various indications. In addition to the hybridization rounds described above, 132 of the embryos diagnosed as chromosomally abnormal were re-analysed on Day 5. RESULTS A total of 2477 embryos were re-hybridized, 1496 due to non-conclusive results and 981 to confirm observed aneuploidies. After re-hybridization, 882 embryos (59%) were then diagnosed as normal, 600 embryos (40.1%) had a clear abnormality and only 14 embryos (0.9%) remained non-informative. From the 981 embryos in the latter group, 890 embryos had monosomies and, after re-hybridization 174 embryos (19.6%) were normal and 716 (80.5%) had confirmed monosomies. In contrast, re-hybridization confirmed 90 (98.9%) of the 91 observed trisomies. In addition, Day-5 re-analysis of abnormal embryos showed a higher rate of concordant diagnosis between Day 3 and Day 5 when re-hybridizations had been included on Day-3 (95 versus 82.7%; P= 0.0443), especially for the confirmation of monosomies (82.8 versus 61.0%; P = 0.0087). CONCLUSIONS Our data indicate that additional hybridization rounds improve the accuracy of the diagnosis, increasing the number of chromosomally normal embryos available for transfer. Re-hybridization with additional probes as a standard approach to PGS could enhance the potential benefits of the technique.

UI MeSH Term Description Entries
D001755 Blastocyst A post-MORULA preimplantation mammalian embryo that develops from a 32-cell stage into a fluid-filled hollow ball of over a hundred cells. A blastocyst has two distinctive tissues. The outer layer of trophoblasts gives rise to extra-embryonic tissues. The inner cell mass gives rise to the embryonic disc and eventual embryo proper. Embryo, Preimplantation,Blastocysts,Embryos, Preimplantation,Preimplantation Embryo,Preimplantation Embryos
D002877 Chromosomes, Human Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual. Chromosome, Human,Human Chromosome,Human Chromosomes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000782 Aneuploidy The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D012680 Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) Specificity,Sensitivity,Specificity and Sensitivity
D017404 In Situ Hybridization, Fluorescence A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH
D019836 Preimplantation Diagnosis Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease. Diagnosis, Preimplantation,Preimplantation Genetic Diagnosis,Diagnosis, Preimplantation Genetic,Preimplantation Screening,Diagnoses, Preimplantation,Diagnoses, Preimplantation Genetic,Genetic Diagnoses, Preimplantation,Genetic Diagnosis, Preimplantation,Preimplantation Diagnoses,Preimplantation Genetic Diagnoses,Preimplantation Screenings,Screening, Preimplantation,Screenings, Preimplantation
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

Related Publications

P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
March 2005, Reproductive biomedicine online,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
July 2009, Human reproduction (Oxford, England),
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
August 2005, Fertility and sterility,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
June 2002, Prenatal diagnosis,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
February 2005, Fertility and sterility,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
January 2017, Expert review of molecular diagnostics,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
December 2016, Journal of genetic counseling,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
March 2018, Obstetrics and gynecology clinics of North America,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
October 2014, The Kaohsiung journal of medical sciences,
P Mir, and L Rodrigo, and E Mateu, and V Peinado, and M Milán, and A Mercader, and P Buendía, and A Delgado, and A Pellicer, and J Remohí, and C Rubio
November 2011, Genetics and molecular research : GMR,
Copied contents to your clipboard!