title: False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3.
abstract: 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.
authors.affiliation: IVIOMICS, Paterna, Valencia, Spain. pere.mir@iviomics.com
authors.forename: Pere
authors.initials: P
authors.lastname: Mir
authors.forename: Lorena
authors.initials: L
authors.lastname: Rodrigo
authors.forename: Amparo
authors.initials: A
authors.lastname: Mercader
authors.forename: Pilar
authors.initials: P
authors.lastname: Buendía
authors.forename: Emilia
authors.initials: E
authors.lastname: Mateu
authors.forename: Miguel
authors.initials: M
authors.lastname: Milán-Sánchez
authors.forename: Vanessa
authors.initials: V
authors.lastname: Peinado
authors.forename: Antonio
authors.initials: A
authors.lastname: Pellicer
authors.forename: Jose
authors.initials: J
authors.lastname: Remohí
authors.forename: Carlos
authors.initials: C
authors.lastname: Simón
authors.forename: Carmen
authors.initials: C
authors.lastname: Rubio
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001706:Biopsy; D001755:Blastocyst / Q000166:cytology*; D001757:Blastomeres / Q000166:cytology*; D002877:Chromosomes, Human / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D015925:Cryopreservation; D010064:Embryo Implantation; D004624:Embryo Transfer; D005189:False Positive Reactions; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D018873:Pregnancy Rate; D011446:Prospective Studies; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013997:Time Factors