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. 2016 Aug;33(8):1115-9.
doi: 10.1007/s10815-016-0734-0. Epub 2016 May 30.

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

Nathan R Treff  1   2 , Katherine Thompson  3 , Michael Rafizadeh  3 , Michael Chow  3 , Liza Morrison  3 , Xin Tao  4 , Heather Garnsey  4 , Christine V Reda  3 , Talia L Metzgar  3 , Shelby Neal  3 , Chaim Jalas  4 , Richard T Scott Jr  3   5 , Eric J Forman  3   5
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SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts

Nathan R Treff et al. J Assist Reprod Genet. 2016 Aug.

Abstract

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.

Keywords: Microarray; Preimplantation genetic testing; Reciprocal translocation.

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Figures

Fig. 1
Fig. 1
Workflow diagram for using SNP genotyping information from parental DNA and an unbalanced embryo to determine the carrier status of copy number neutral embryos
See this image and copyright information in PMC

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