title: PGD for a carrier of an intrachromosomal insertion using aCGH.
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.
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto .
authors.forename: Claire Ann
authors.initials: CA
authors.lastname: Jones
authors.forename: Elena
authors.initials: E
authors.lastname: Kolomietz
authors.forename: Georges
authors.initials: G
authors.lastname: Maire
authors.forename: Matthew
authors.initials: M
authors.lastname: Vlasschaert
authors.forename: Ann M
authors.initials: AM
authors.lastname: Joseph-George
authors.forename: Diane
authors.initials: D
authors.lastname: Myles-Reid
authors.forename: Karen
authors.initials: K
authors.lastname: Chong
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Rebecca
authors.initials: R
authors.lastname: Arthur
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D001706:Biopsy; D001755:Blastocyst / Q000473:pathology*; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017211:Treatment Failure
keywords: Array comparative genomic hybridization; chromosomal abnormalities; in vitro fertilization; preimplantation genetic diagnosis