title: Translocations, inversions and other chromosome rearrangements.
abstract: Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors. These techniques also offer the ability to improve outcomes through diagnosis of uniparental disomy and may soon be able to consistently distinguish between normal and balanced translocation karyotypes. Although an accurate projection of the anticipated number of unbalanced embryos is not possible at present, confirmation of normal/balanced status results in high pregnancy rates (PRs) and diagnostic accuracy.
authors: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Thomas Jefferson University, Philadelphia, Pennsylvania.
authors: Scott J
authors: SJ
authors: Morin
authors: Foundation for Embryonic Competence, Basking Ridge, New Jersey.
authors: Jennifer
authors: J
authors: Eccles
authors: Foundation for Embryonic Competence, Basking Ridge, New Jersey.
authors: Amanda
authors: A
authors: Iturriaga
authors: Foundation for Embryonic Competence, Basking Ridge, New Jersey. Electronic address: rzimmerman@feclabs.org.
authors: Rebekah S
authors: RS
authors: Zimmerman
mesh_terms: D001755:Blastocyst / Q000473:pathology; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D007446:Chromosome Inversion; D002877:Chromosomes, Human; D004624:Embryo Transfer; D005260:Female; D015321:Gene Rearrangement; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D010641:Phenotype; D011237:Predictive Value of Tests; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D027724:Reproductive Techniques, Assisted / Q000009:adverse effects*; D018570:Risk Assessment; D012307:Risk Factors; D014178:Translocation, Genetic; D016896:Treatment Outcome
keywords: Reciprocal translocation; Robertsonian translocation; inversions; marker chromosomes; preimplantation genetic diagnosis