PGD for a carrier of an intrachromosomal insertion using aCGH

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.