Objective: To determine how often trophectoderm biopsy and rapid, real-time quantitative polymerase chain reaction (PCR)-based comprehensive chromosome screening (CCS) alters clinical management by resulting in the transfer of a different embryo than would have been chosen by traditional day 5 morphology-based criteria.

Design: Prospective.

Setting: Academic center for reproductive medicine.

Patient(s): Infertile couples (n = 100; mean age 35 ± 4 years) with at least two blastocysts suitable for biopsy on day 5.

Intervention(s): Prior to trophectoderm biopsy for CCS the embryologist identified which embryo would have been selected for traditional day 5 elective single ET.

Main Outcome Measure(s): The risk of aneuploidy in the embryos that would have been selected on day 5 was calculated and compared with the aneuploidy rate of the cohort of all embryos that underwent CCS testing. The aneuploidy risk was compared between age groups.

Result(s): After quantitative PCR-based CCS, 22% (95% confidence interval 15%-31%) of the embryos selected by day 5 morphology were aneuploid, which was lower than the 32% aneuploidy rate of the cohort. Patients ≥35 years had a higher risk of an aneuploid blastocyst being selected by morphology than those <35 years old (31% vs. 14%). Among patients who had selection altered by CCS, 74% (14/19) delivered, including 77% (10/13) after elective single ET. Most patients (77%) had an additional euploid blastocyst vitrified for future use.

Conclusion(s): The CCS results alter embryo selection due to the presence of aneuploidy in embryos with optimal day 5 morphology. Excellent outcomes were obtained when CCS-based selection was different than morphology-based selection.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2013.04.043DOI Listing

Publication Analysis

Top Keywords

comprehensive chromosome
8
chromosome screening
8
trophectoderm biopsy
8
traditional day
8
embryos selected
8
selected day
8
aneuploidy rate
8
rate cohort
8
day
5
screening alters
4

Similar Publications

Bloom Syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell-cycle progression, and development. Pathogenic variants in human BLM cause the autosomal recessive disorder Bloom Syndrome, characterized by predisposition to numerous types of cancer. Prior studies of Drosophila Blm mutants lacking helicase activity or protein have shown sensitivity to DNA damaging agents, defects in repairing DNA double-strand breaks (DSBs), female sterility, and improper segregation of chromosomes in meiosis.

View Article and Find Full Text PDF

Genetic Characteristics of the Rat Fibroblast Cell Line Rat-1.

Cells

December 2024

Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH, University Hospital Aachen, D-52074 Aachen, Germany.

The Rat-1 cell line was established as a subclone of the parental rat fibroblastoid line F2408, derived from Fisher 344 rat embryos. Rat-1 cells are widely used in various research fields, especially in cancer biology, to study the effects of oncogenes on cell proliferation. They are also crucial for investigating signal transduction pathways and play a key role in drug testing and pharmacological studies due to their rapid proliferation.

View Article and Find Full Text PDF

Chromothripsis, a hallmark of cancer, is characterized by extensive and localized DNA rearrangements involving one or a few chromosomes. However, its genome-wide frequency and characteristics in urothelial carcinoma (UC) remain largely unknown. Here, by analyzing single-regional and multi-regional whole-genome sequencing (WGS), we present the chromothripsis blueprint in 488 UC patients.

View Article and Find Full Text PDF

Human tumors are diverse in their natural history and response to treatment, which in part results from genetic and transcriptomic heterogeneity. In clinical practice, single-site needle biopsies are used to sample this diversity, but cancer biomarkers may be confounded by spatiogenomic heterogeneity within individual tumors. Here we investigate clonally expressed genes as a solution to the sampling bias problem by analyzing multiregion whole-exome and RNA sequencing data for 450 tumor regions from 184 patients with lung adenocarcinoma in the TRACERx study.

View Article and Find Full Text PDF

Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk.

Cell Genom

January 2025

Curriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA; Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address:

Osteoarthritis (OA) poses a significant healthcare burden with limited treatment options. While genome-wide association studies (GWASs) have identified over 100 OA-associated loci, translating these findings into therapeutic targets remains challenging. To address this gap, we mapped gene expression, chromatin accessibility, and 3D chromatin structure in primary human articular chondrocytes in both resting and OA-mimicking conditions.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!