False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3

• DOI: 10.1007/s10815-012-9918-4
• Publication Date: 2012-12-19T01:19:35Z
• Authors: Pere Mir; Lorena Rodrigo; Amparo Mercader; Pilar Buendía; Emilia Mateu; Miguel Milán-Sánchez; Vanessa Peinado; Antonio Pellicer; Jose Remohí; Carlos Simón; Carmen Rubio
• Keywords: Preimplantation Genetic Diagnosis; Concordance; Blastomere

In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4. Single-cell day-4 arrayCGH diagnosis was then performed. A successful amplification was obtained in 97.4 % (37/38) of the day-4 cells analysed by arrayCGH. Day-3 FISH and day-4 arrayCGH diagnosis were concordant in 35/37 cases. The two discordant embryos were spread and all the cells from each embryo were re-analysed by FISH on day 5. The same error rate (2.7 %) for day-3 FISH and day-4 arrayCGH was obtained when comparing day-5 FISH re-analysis. After this pre-clinical phase, the platform was used for day-3 arrayCGH clinical application in 320 patients (1,760 embryos). Day-3 amplification rate was 98.6 %. An optimal reproductive outcome was obtained when applying arrayCGH to a clinical program: clinical pregnancy rate per cycle of 38.4 % and 60.3 % per transference were obtained, with an implantation rate of 53.5 %. Overall miscarriage rate was 10.6 %. Additionally, day-5 FISH re-analysis was performed in 42 of the embryos from the clinical phase, obtaining a concordance rate of 97.6 % with day-3 arrayCGH.