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) …

Diagnosis of human preimplantation embryo viability

DK Gardner, M Meseguer, C Rubio… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Transfer of more than a single embryo in an IVF cycle comes with the finite
possibility of a multiple gestation. Even a twin pregnancy confers significant risk to both …

Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts

E Fragouli, S Alfarawati, K Spath, D Babariya… - Human genetics, 2017 - Springer
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in IVF and aims to
improve outcomes by avoiding aneuploid embryo transfers. Chromosomal mosaicism is …

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

X Cai, GD Evrony, HS Lehmann, PC Elhosary… - Cell reports, 2014 - cell.com
De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree
to which they occur somatically, and during development, is unknown. Single-cell whole …

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 …

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

D Wells, K Kaur, J Grifo, M Glassner… - Journal of medical …, 2014 - jmg.bmj.com
Background The majority of human embryos created using in vitro fertilisation (IVF)
techniques are aneuploid. Comprehensive chromosome screening methods, applicable to …

Genetic considerations in recurrent pregnancy loss

KJ Hyde, DJ Schust - Cold Spring Harbor …, 2015 - perspectivesinmedicine.cshlp.org
Human reproduction is remarkably inefficient; nearly 70% of human conceptions do not
survive to live birth. Spontaneous fetal aneuploidy is the most common cause for …

Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?

M Popovic, A Dheedene, C Christodoulou… - Human …, 2018 - academic.oup.com
STUDY QUESTION To what extent does a trophectoderm (TE) biopsy reliably reflect the
chromosomal constitution of the inner cell mass (ICM) in human blastocysts? SUMMARY …

The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies

E Fragouli, S Munne, D Wells - Human reproduction update, 2019 - academic.oup.com
BACKGROUND Embryos that are able to form blastocysts have succeeded in activating their
genome and differentiating into two cell types—an external layer of trophectoderm cells …