Improving FISH diagnosis for preimplantation genetic aneuploidy screening
Authors: Mir, P.; Rodrigo, L.; Mateu, E.; Peinado, V.; Miln, M.; Mercader, A.; Buenda, P.; Delgado, A.; Pellicer, A.; Remoh, J.; Rubio, C.
Source: Human Reproduction, Volume 25, Number 7, 19 July 2010 , pp. 1812-1817(6)
Publisher: Oxford University Press
Abstract:BACKGROUNDIn 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.METHODSThis 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.RESULTSA 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).CONCLUSIONSOur 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.
Document Type: Research article
Publication date: 2010-07-19
- Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.