title: Preimplantation genetic diagnosis of pericentric inversions.
abstract: Inversions are structural chromosome abnormalities that may be associated with infertility, multiple miscarriage and chromosomally unbalanced offspring. Preimplantation genetic diagnosis (PGD) with subtelomeric probes was used to select for transfer only those embryos that were normal or balanced for three pericentric inversions. In contrast to previous protocols the present procedure allows the detection of unbalanced embryos that might arise from U-recombination in the inverted region. Additionally, aneuploidy screening was carried out in two cases by a second round of fluorescent in situ hybridization (FISH) with centromeric probes. Of the three couples that underwent the procedure one became pregnant twice. The first pregnancy delivered a healthy and chromosomally normal baby and the second pregnancy is ongoing with triplets.
authors.affiliation: The Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, Livingston, NJ 07052, USA.
authors.forename: T
authors.initials: T
authors.lastname: Escudero
authors.forename: M
authors.initials: M
authors.lastname: Lee
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: M
authors.initials: M
authors.lastname: Sandalinas
authors.forename: S
authors.initials: S
authors.lastname: Munné
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002503:Centromere; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome; D018566:Pregnancy, High-Risk; D019836:Preimplantation Diagnosis / Q000379:methods*; D011995:Recombination, Genetic