SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.

Journal Article (Journal Article)

PURPOSE: The purpose of the study is to validate a method that provides the opportunity to distinguish a balanced translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS). METHODS: A series of translocation carrier couples that underwent IVF with single nucleotide polymorphism (SNP) array-based CCS on 148 embryos were included. Predictions of balanced or normal status of each embryo were made based upon embryonic SNP genotypes. In one case, microdeletion status was used to designate whether embryos were balanced or normal. In 10 additional cases, conventional karyotyping was performed on newborns in order to establish the true genetic status (balanced or normal) of the original transferred embryo. Finally, implantation potential of balanced or normal embryos was compared. RESULTS: Phasing SNPs using unbalanced embryos allowed accurate prediction of whether transferred embryos were balanced translocation carriers or truly normal in all cases completed to date (100 % concordance with conventional karyotyping of newborns). No difference in implantation potential of balanced or normal embryos was observed. CONCLUSIONS: This study demonstrates the validity of a CCS method capable of distinguishing normal from balanced translocation carrier embryos. The only prerequisite is the availability of parental DNA and an unbalanced IVF embryo, making the method applicable to the majority of carrier couples. In addition, the SNP array platform allows simultaneous CCS for aneuploidy with the same platform and from the same biopsy. Future work will involve prospective predictions to select normal embryos with subsequent karyotyping of the resulting newborns.

Full Text

Duke Authors

Cited Authors

  • Treff, NR; Thompson, K; Rafizadeh, M; Chow, M; Morrison, L; Tao, X; Garnsey, H; Reda, CV; Metzgar, TL; Neal, S; Jalas, C; Scott, RT; Forman, EJ

Published Date

  • August 2016

Published In

Volume / Issue

  • 33 / 8

Start / End Page

  • 1115 - 1119

PubMed ID

  • 27241531

Pubmed Central ID

  • PMC4974228

Electronic International Standard Serial Number (EISSN)

  • 1573-7330

Digital Object Identifier (DOI)

  • 10.1007/s10815-016-0734-0


  • eng

Conference Location

  • Netherlands