PMID- 20479065 OWN - NLM STAT- MEDLINE DCOM- 20101222 LR - 20220331 IS - 1460-2407 (Electronic) IS - 1360-9947 (Print) IS - 1360-9947 (Linking) VI - 16 IP - 8 DP - 2010 Aug TI - SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. PG - 590-600 LID - 10.1093/molehr/gaq037 [doi] AB - Although selection of chromosomally normal embryos has the potential to improve outcomes for patients undergoing IVF, the clinical impact of aneuploidy screening by fluorescence in situ hybridization (FISH) has been controversial. There are many putative explanations including sampling error due to mosaicism, negative impact of biopsy, a lack of comprehensive chromosome screening, the possibility of embryo self-correction and poor predictive value of the technology itself. Direct analysis of the negative predictive value of FISH-based aneuploidy screening for an embryo's reproductive potential has not been performed. Although previous studies have found that cleavage-stage FISH is poorly predictive of aneuploidy in morphologically normal blastocysts, putative explanations have not been investigated. The present study used a single nucleotide polymorphism (SNP) microarray-based 24 chromosome aneuploidy screening technology to re-evaluate morphologically normal blastocysts that were diagnosed as aneuploid by FISH at the cleavage stage. Mosaicism and preferential segregation of aneuploidy to the trophectoderm (TE) were evaluated by characterization of multiple sections of the blastocyst. SNP microarray technology also provided the first opportunity to evaluate self-correction mechanisms involving extrusion or duplication of aneuploid chromosomes resulting in uniparental disomy (UPD). Of all blastocysts evaluated (n = 50), 58% were euploid in all sections despite an aneuploid FISH result. Aneuploid blastocysts displayed no evidence of preferential segregation of abnormalities to the TE. In addition, extrusion or duplication of aneuploid chromosomes resulting in UPD did not occur. These findings support the conclusion that cleavage-stage FISH technology is poorly predictive of aneuploidy in morphologically normal blastocysts. FAU - Northrop, L E AU - Northrop LE AD - Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA. FAU - Treff, N R AU - Treff NR FAU - Levy, B AU - Levy B FAU - Scott, R T Jr AU - Scott RT Jr LA - eng PT - Comparative Study PT - Journal Article DEP - 20100517 PL - England TA - Mol Hum Reprod JT - Molecular human reproduction JID - 9513710 SB - IM MH - *Aneuploidy MH - Blastocyst/*cytology/metabolism MH - Cell Line MH - Cleavage Stage, Ovum/*metabolism MH - Embryonic Development MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Male MH - Maternal Age MH - Microarray Analysis/methods MH - *Polymorphism, Single Nucleotide MH - Pregnancy MH - Preimplantation Diagnosis/*methods PMC - PMC2907218 EDAT- 2010/05/19 06:00 MHDA- 2010/12/24 06:00 PMCR- 2010/05/17 CRDT- 2010/05/19 06:00 PHST- 2010/05/19 06:00 [entrez] PHST- 2010/05/19 06:00 [pubmed] PHST- 2010/12/24 06:00 [medline] PHST- 2010/05/17 00:00 [pmc-release] AID - gaq037 [pii] AID - 10.1093/molehr/gaq037 [doi] PST - ppublish SO - Mol Hum Reprod. 2010 Aug;16(8):590-600. doi: 10.1093/molehr/gaq037. Epub 2010 May 17.