Clinical application of embryo aneuploidy testing by next-generation sequencing

Abstract We review here the evolution in the field of embryo aneuploidy testing over the last 20 years, from the analysis of a subset of chromosomes by fluorescence in situ hybridisation to the transition toward a more comprehensive analysis of all 24 chromosomes. This current comprehensive aneuploidy testing most commonly employs next-generation sequencing (NGS). We present our experience in over 130 000 embryo biopsies using this technology. The incidence of aneuploidy was lower in trophectoderm biopsies compared to cleavage-stage biopsies. We also confirmed by NGS that embryo aneuploidy rates increased with increasing maternal age, mostly attributable to an increase in complex aneuploid …

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

The objective of this study was to evaluate the usefulness of comprehensive chromosome screening (CCS) using array comparative genomic hybridization (aCGH). The study included 1420 CCS cycles for recurrent miscarriage (n=203); repetitive implantation failure (n=188); severe male factor (n=116); previous trisomic pregnancy (n=33); and advanced maternal age (n=880). CCS was performed in cycles with fresh oocytes and embryos (n=774); mixed cycles with fresh and vitrified oocytes (n=320); mixed cycles with fresh and vitrified day-2 embryos (n=235); and mixed cycles with fresh and vitrified day-3 embryos (n=91). Day-3 embryo biopsy was performed and analyzed by aCGH followed by day-5 embryo tran…

Tecnología BACs-on-Beads™ aplicada al diagnóstico prenatal y al estudio citogenético de restos abortivos

Resumen La tecnologia de BACs-on-Beads utiliza sondas de ADN procedentes de Cromosomas Artificiales Bacterianos o BAC fijados en microesferas Luminex®. La muestra marcada y los ADN de referencia marcados se hibridan respectivamente con las mismas sondas BoBsTM complementarias. Despues de la hibridacion se leen las intensidades de la senal mediante el sistema instrumental Luminex® 100/200. Se puede aplicar al diagnostico prenatal rapido con un kit disenado para descartar aneuploidias para los cromosomas 13, 18, 21 y los cromosomas sexuales asi como ganancias y perdidas de ADN asociadas con 9 sindromes de microdelecion como son: Sindrome de DiGeorge, Sindrome de Williams-Beuren, Sindrome de P…

Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy.

In this work we reviewed 18 years of experience using fluorescence in situ hybridization (FISH) for sperm aneuploidy testing. We evaluated parameters associated with increased numerical sperm chromosome abnormalities and determined the male contribution to embryo aneploidies in terms of reproductive outcome by increased sperm aneuploidy. This retrospective study analyzed data from 2008 sperm samples of infertile males undergoing FISH analysis because of clinical history of repetitive implantation failure, recurrent miscarriage, impaired sperm parameters, or mixed causes. Sperm concentration was the only sperm parameter associated with FISH results—we observed a gradual increase of abnormal …

Effect of genistein and daidzein levels on ovarian response and embryo quality in PGT-A cycles

Effect of environmental endocrine disruptor's exposure on sperm quality and aneuploidy rates in fertile sperm donors