Single cell genomics: advances and future perspectives

IC Macaulay, T Voet - PLoS genetics, 2014 - journals.plos.org
Advances in whole-genome and whole-transcriptome amplification have permitted the
sequencing of the minute amounts of DNA and RNA present in a single cell, offering a …

[HTML][HTML] Comprehensive chromosome screening improves embryo selection: a meta-analysis

EM Dahdouh, J Balayla, JA García-Velasco - Fertility and sterility, 2015 - Elsevier
Objective To study whether preimplantation genetic screening with comprehensive
chromosome screening (PGS-CCS) improves clinical implantation rates (IR) and sustained …

Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a …

Z Yang, J Liu, GS Collins, SA Salem, X Liu… - Molecular …, 2012 - Springer
Background Single embryo transfer (SET) remains underutilized as a strategy to reduce
multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for …

[HTML][HTML] Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments

F Spinella, F Fiorentino, A Biricik, S Bono, A Ruberti… - Fertility and sterility, 2018 - Elsevier
Objective To assess whether the extent of chromosomal mosaicism can influence the
success rate of IVF treatments. Design Prospective study. Setting Private genetic and …

Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles

F Fiorentino, S Bono, A Biricik, A Nuccitelli… - Human …, 2014 - academic.oup.com
STUDY QUESTION Can next-generation sequencing (NGS) techniques be used reliably for
comprehensive aneuploidy screening of human embryos from patients undergoing IVF …

[HTML][HTML] Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos

F Fiorentino, A Biricik, S Bono, L Spizzichino… - Fertility and sterility, 2014 - Elsevier
Objective To validate a next-generation sequencing (NGS)–based method for 24-
chromosome aneuploidy screening and to investigate its applicability to preimplantation …

Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage

SL Chavez, KE Loewke, J Han, F Moussavi… - Nature …, 2012 - nature.com
Previous studies have demonstrated that aneuploidy in human embryos is surprisingly
frequent with 50–80% of cleavage-stage human embryos carrying an abnormal …

Prenatal and pre-implantation genetic diagnosis

JR Vermeesch, T Voet, K Devriendt - Nature Reviews Genetics, 2016 - nature.com
The past decade has seen the development of technologies that have revolutionized
prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide …

The ESHRE PGD Consortium: 10 years of data collection

JC Harper, L Wilton… - Human reproduction …, 2012 - academic.oup.com
BACKGROUND Since it was established in 1997, the ESHRE PGD Consortium has been
collecting data from international preimplantation genetic diagnosis (PGD) centres. Ten …

[HTML][HTML] Translocations, inversions and other chromosome rearrangements

SJ Morin, J Eccles, A Iturriaga, RS Zimmerman - Fertility and sterility, 2017 - Elsevier
Chromosomal rearrangements have long been known to significantly impact fertility and
miscarriage risk. Advancements in molecular diagnostics are challenging contemporary …