title: Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening.
abstract: The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management.
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey. Electronic address: rscott@rmanj.com.
authors.forename: Richard T
authors.initials: RT
authors.lastname: Scott
mesh_terms: D000782:Aneuploidy; D001755:Blastocyst / Q000473:pathology*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D002877:Chromosomes, Human; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009030:Mosaicism; 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
keywords: Chromosomal duplications; chromosomal deletions; embryonic mosaicism; preimplantation genetic screening; subchromosomal defects