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Res Rep Gynaecol Obstet 2017 | Volume 1 Issue 4
November 02-03, 2017 | Chicago, USA
Embryology and In vitro Fertilization
World Congress on
Clinical exome sequencing screening of subfertile individuals participating in in vitro fertilization
program: A pilot study
Anastasios Argyriou
1
, Danny Dafnis
1
, Ioannis Giakoumakis
1
and
Pantelis Constantoulakis
2
1
Mediterranean Fertility Institute, Greece
2
Science Labs Medical Institute, Athens, Greece
R
ecent advances in genome analysis using next generation
sequencing (NGS) allows simultaneously analyzing hundreds
and thousands of genes for mutations that either cause or
predispose to diseases and/or pathologic phenotypes. We
have chosen to apply an advanced clinical exome sequencing
panel (powered by Sophia Genetics DDM) on an Illumina
NextSeq-500 platform that analyses in detail at least 11 Mb
of human expressed DNA that contain more than 4500 genes
with disease- causing mutations, according to the Human Gene
Mutation Database (HGMD). We selected and targeted on 103
genes involved in human infertility, according to the Human
Phenotype Ontology (HPO) database, which uses updated
information from validated sources (Decipher, Orphanet,
OMIM). The population we studied in this preliminary effort
is 12 unrelated volunteers that were participating in IVF
programs and exhibited unexplained subfertility and 2 control
fertile subjects. Next generation sequencing and detailed
bioinformatics analysis of the infertility related genes revealed
pathogenic and/or likely pathogenic mutations in most of the
sub-fertile individuals, whereas no mutations were found in the
2 fertile controls in any of the genes studied. The number of
samples analyzed is very small to draw conclusive results, but
this pilot study suggests that genetic factors that predispose
various fertility related functions may play significant role in
cases of repeated IVF failures. Given the significant cost and
health burden of repeated efforts for fertilization this new
genomic era offers a novel approach in selecting the couples
that must think of alternative reproduction options.
Speaker Biography
Anastasios Argyriou has 31 years of professional and research experience in Biology of
Reproduction and Andrology. (Bachelor in Biology, University of Athens, Greece, DEA
in Endocrinology and Development, University of Caen, France, Diploma in Andrology,
University Paris XI, France, PhD in Physiology of Human Reproduction, University of
Paris VI, France). As a Senior Clinical Embryologist in IVF Laboratories, he has attended
multiple seminars in advanced IVF laboratory methods, teaching both undergraduate
and Post-graduate students and published scientific papers and articles. He delivered
lectures to academic and scientific audiences as a member of Greek and International
Scientific Associations and a regular member of the National Committee of Medically
Assisted Reproduction in Greece.
e:
a.argyriou@yahoo.gr