title: Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?
abstract: The aim of this study was to analyse the possible occurrence of the interchromosomal effect (ICE) in human preimplantation embryos obtained from Robertsonian and reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements who were undergoing preimplantation genetic diagnosis (PGD) and to investigate whether offering aneuploidy screening would be beneficial to these patients. Cleavage stage embryos from translocation carriers undergoing PGD were biopsied. Multicolour fluorescence in situ hybridisation for the chromosomes involved in the translocation in addition to nine more chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) was used in the analysis. The control group involved embryos obtained from age-matched patients undergoing preimplantation genetic screening (PGS). Cumulative aneuploidy rate in embryos derived from both Robertsonian and reciprocal translocation carriers was found to be similar with the control group. Therefore no ICE was observed in cleavage stage embryos obtained from these carriers. More than half of the embryos with chromosome 10 rearrangements had aneuploidy for which an increased aneuploidy rate was more apparent in male carriers. Thus, it is possible that there is a risk of ICE in reciprocal carriers with chromosome 10 rearrangements. This study showed that there is no ICE in embryos derived from Robertsonian and reciprocal translocation carriers. However high rates of aneuploidy in structurally normal chromosomes were detected in embryos derived from these carriers and thus aneuploidy screening in addition to PGD may increase the pregnancy rates of these patients.
authors.affiliation: Near East University,Faculty of Medicine,Department of Medical Genetics,East Avenue,PO Box: 922022 Yakin Dogu Bulvari,Nicosia,Cyprus.
authors.forename: Pinar
authors.initials: P
authors.lastname: Tulay
authors.affiliation: Bahceci Fulya Assisted Reproductive Technology Centre,Hakkı Yeten St,11/3,34365 Istanbul,Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Gultomruk
authors.affiliation: Bahceci Fulya Assisted Reproductive Technology Centre,Hakkı Yeten St,11/3,34365 Istanbul,Turkey.
authors.forename: Necati
authors.initials: N
authors.lastname: Findikli
authors.affiliation: Bahceci Fulya Assisted Reproductive Technology Centre,Hakkı Yeten St,11/3,34365 Istanbul,Turkey.
authors.forename: Erbil
authors.initials: E
authors.lastname: Yagmur
authors.affiliation: Bahceci Fulya Assisted Reproductive Technology Centre,Hakkı Yeten St,11/3,34365 Istanbul,Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Bahceci
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001755:Blastocyst / Q000502:physiology*; D016022:Case-Control Studies; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005307:Fertilization in Vitro; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic
keywords: FISH; Human preimplantation embryo; Interchromosomal effect; PGD; Translocation