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Review
. 2014 Dec;60(6):377-82.
doi: 10.3109/19396368.2014.962710. Epub 2014 Sep 23.

PGD for a carrier of an intrachromosomal insertion using aCGH

Claire Ann Jones  1 , Elena Kolomietz, Georges Maire, Matthew Vlasschaert, Ann M Joseph-George, Diane Myles-Reid, Karen Chong, David Chitayat, Rebecca Arthur
Affiliations
Review

PGD for a carrier of an intrachromosomal insertion using aCGH

Claire Ann Jones et al. Syst Biol Reprod Med. 2014 Dec.

Abstract

Intrachromosomal insertions are rare and difficult to diagnose. However, making the correct diagnosis is critical for genetic risk assessment, and prenatal and preimplantation genetic diagnosis outcomes. We present a case of preimplantation genetic diagnosis (PGD) using array comparative genomic hybridization (aCGH) following trophectoderm biopsy of embryos created after in vitro fertilization for a carrier of an intrachromosomal insertion on chromosome 1 [46,XX, ins(1)(q44q23q32.1)]. The PGD analysis of 6 blastocysts demonstrated 67% unbalanced embryos. No pregnancy was achieved after the transfer of 2 euploid embryos. To the best of our knowledge, this is the first reported case of PGD using aCGH following trophectoderm biopsy for a carrier of an intrachromosomal insertion.

Keywords: Array comparative genomic hybridization; chromosomal abnormalities; in vitro fertilization; preimplantation genetic diagnosis.

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