Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations.
Whole-chromosome aneuploidy screening has become a common practice to improve outcomes and decrease embryonic transfer order in patients undergoing treatment for infertility through in vitro fertilization. Despite implementation of this powerful technology, a significant percentage of euploid embryos fail to result in successful deliveries. As technology has evolved, detection of subchromosomal imbalances and embryonic mosaicism has become possible, and these serve as potential explanations for euploid embryo transfer failures. Cases involving a parent with a balanced translocation provide a unique opportunity to characterize the capabilities and limitations of detecting segmental imbalances with a variety chromosome screening platforms. Adaptation of these methods to de novo imbalances now represent an ongoing challenge in the field of preimplantation genetic screening as additional factors including mosaicism, clinical predictive value, and distinguishing true imbalances from technical artifacts must be more carefully considered.
Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: ntreff@rmanj.com.
Nathan R
NR
Treff
Thomas Jefferson University, Philadelphia, Pennsylvania.
Jason M
JM
Franasiak
D000782:Aneuploidy; D001755:Blastocyst / Q000473:pathology*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D002877:Chromosomes, Human; D055028:Comparative Genomic Hybridization; D004624:Embryo Transfer; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; 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; D016896:Treatment Outcome
Array comparative genomic hybridization; mosaicism; next-generation sequencing; segmental aneuploidy; single nucleotide polymorphism microarray