Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

M Popovic, L Dhaenens, A Boel… - Human …, 2020 - academic.oup.com
BACKGROUND Trophectoderm (TE) biopsy and next generation sequencing (NGS) are
currently the preferred techniques for preimplantation genetic testing for aneuploidies (PGT …

Preimplantation genetic testing for chromosomal abnormalities: aneuploidy, mosaicism, and structural rearrangements

M Viotti - Genes, 2020 - mdpi.com
There is a high incidence of chromosomal abnormalities in early human embryos, whether
they are generated by natural conception or by assisted reproductive technologies (ART) …

[HTML][HTML] Accurate quantitation of mitochondrial DNA reveals uniform levels in human blastocysts irrespective of ploidy, age, or implantation potential

AR Victor, AJ Brake, JC Tyndall, DK Griffin… - Fertility and sterility, 2017 - Elsevier
Objective To accurately determine mitochondrial DNA (mtDNA) levels in human blastocysts.
Design Retrospective analysis. Setting IVF clinic. Patient (s) A total of 1,396 embryos derived …

Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples

LG Martelotto, T Baslan, J Kendall, FC Geyer… - Nature medicine, 2017 - nature.com
A substantial proportion of tumors consist of genotypically distinct subpopulations of cancer
cells. This intratumor genetic heterogeneity poses a substantial challenge for the …

Preimplantation genetic testing for monogenic disorders

M De Rycke, V Berckmoes - Genes, 2020 - mdpi.com
Preimplantation genetic testing (PGT) has evolved into a well-established alternative to
invasive prenatal diagnosis, even though genetic testing of single or few cells is quite …

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy

M Popovic, L Dhaenens, J Taelman… - Human …, 2019 - academic.oup.com
STUDY QUESTION What is the accuracy of preimplantation genetic testing for aneuploidies
(PGT-A) when considering human peri-implantation outcomes in vitro? STUDY ANSWER …

Evaluation of a novel non-invasive preimplantation genetic screening approach

V Kuznyetsov, S Madjunkova, R Antes, R Abramov… - Plos one, 2018 - journals.plos.org
Objective To assess whether embryonic DNA isolated from blastocyst culture conditioned
medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non …

Chromosomal analysis in IVF: just how useful is it?

DK Griffin, C Ogur - Reproduction, 2018 - rep.bioscientifica.com
Designed to minimize chances of transferring genetically abnormal embryos,
preimplantation genetic diagnosis (PGD) involves in vitro fertilization (IVF), embryo biopsy …

TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol

AJ Picher, B Budeus, O Wafzig, C Krüger… - Nature …, 2016 - nature.com
Sequencing of a single-cell genome requires DNA amplification, a process prone to
introducing bias and errors into the amplified genome. Here we introduce a novel multiple …

Recent advances and application of whole genome amplification in molecular diagnosis and medicine

X Wang, Y Liu, H Liu, W Pan, J Ren, X Zheng… - MedComm, 2022 - Wiley Online Library
Whole genome amplification (WGA) is a technology for non‐selective amplification of the
whole genome sequence, first appearing in 1992. Its primary purpose is to amplify and …