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GENETICS AND MOLECULAR BIOLOGY LABORATORY

The most advanced technology for the study of the human genome: Next Generation Sequencing (NGS).

Aimed to IVF centers that want to offera value-added service to their patients by improving the success rate of the process.

Preimplantation Genetic Diagnosis (PGD)

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TECNALIAParque Científico y Tecnológico de Gipuzkoa Mikeletegi Pasealekua, 2E-20009 Donostia-San Sebastián - Gipuzkoa (Spain)T 902 760 000*T +34 946 430 850 (International calls)

TECNALIA is the first privately funded applied research and technological development centre in Spain and one of the leading such centres in Europe. A combination of technology, tenacity, efficiency, courage and imagination.

As we are aware that the world evolves rapidly, we get ahead of future challenges by turning technology-base business opportunities into competitive advantages.

Contact info:

Javier Margareto Sánchez PhD.Genetics and Molecular Biology Laboratory Manager javier.margareto@tecnalia.comM 664 040 003

“TECNALIA has implemented the Next Generation Sequencing (NGS) technology for detecting aneuploidy in embryos from IVF cycles.

This technology enables the study of the 24 chromosomes in a single test with a

higher resolution than previous technologies.”

GAMETE DONORS GENETIC SCREENING

Directed gamete donors, TECNALIA carries out genetic tests to detect Cystic Fibrosys and/or X-Fragile Syndrome mutation carriers.

WHAT TYPE OF DISEASE DOES PGD ENABLE TO DIAGNOSE?

TECNALIA´s Next Generation Sequencing system simultaneously analyses more than 500 genes associated with hereditary single gene disorders, such as:

• Cystic fibrosis.

• Fragile X Syndrome.

• Beta Thalassemia.

• Hereditary Ovarian and Breast Cancer.

• Hereditary NonPolyposis Colon Cancer (HNPCC).

• Myotonic Dystrophy Type I.

• Familial adenomatous polyposis.

• Tuberous Sclerosis Type I and II.

• Fanconi Anemia.

• ...

THE PGD ADVANTAGE TO COUPLES

• Improvement of implantation rates.

• Reduction of spontaneous abortions.

• Increases the pregnancy rate.

• Enables single embryo transfers, reducing the risk associated to multiple pregnancies.

GENETICS AND MOLECULAR BIOLOGY LABORATORY I Preimplantation Genetic Diagnosis (PGD) by NGS

Unaffected carrier

Unaffected carrierAffected Unaffected

Unaffected carrier

Unaffected carrier

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GENETICS AND MOLECULAR BIOLOGY LABORATORY I Preimplantation Genetic Diagnosis (PGD) by NGS GENETICS AND MOLECULAR BIOLOGY LABORATORY I Preimplantation Genetic Diagnosis (PGD) by NGS

TECNALIA Research & Innovation launches the Preimplantation Genetic Diagnosis (PGD) service to assist In Vitro Fertilization (IVF) centers with cutting-edge technology for the analysis of human genome: Massive parallel Sequencing (also Next Generation Sequencing or NGS).

PGD is a form of prenatal diagnosis that is performed on early embryos generated during IVF cycles and it is intended to prevent the transmission of hereditary genetic diseases to offspring.

NGS technology applied to DGP also offers the ability to identify the presence of numerical chromosomal abnormalities (Aneuploidy) that compromise embryo viability.

TYPES OF DGP OFFERED BY TECNALIA

TECNALIA offers two different forms of PGD to fertility centers:

• Preimplantation Genetic Screening (PGS) or PGD for aneuploidy testing: PGD for aneuploidy testing represents the most common indication of PGD in IVF cycles. PGS involves the analysis of embryos to identify changes in chromosomes copy number (chromosome aneuploidy), which would compromise embryo viability and will ultimately result in failed implantation or subsequent miscarriage.

Most aneuploid embryos show very low implantation rates and those finally implanted usually undergo miscarriage during first trimester of pregnancy. Identification of aneuploid embryos allow only euploid embryos are transferred to the mother, thus maximising the likelihood of obtaining a succesful pregnancy.

• PGD for single gene disorders: This analysis aims to identify, identify whether a specific embryo carries a DNA mutation responsible for single gene disorder for which one or both parents are carriers, to prevent the transmission of heritable genetic disorder to their offspring.

Depending on the type of embryo biopsy used (blastomeres or trophectoderm) and the analytical methodology, may be necessary pretest work up, in which parents and affected relatives are tested in order to rule out false positives and false negatives as a result of ADO. The NGS technology allows to simultaneously analyze more than 500 genes associated with single gene hereditary disorders.

TECNALIA has implemented Next Generation Sequencing (NGS) technology for the detection of chromosome aneuploidy in embryos from IVF cycles. This technology enables the analysis of 24 chromosomes in a single test with a higher resolution than previous technologies.

This technique has been experimentally validated by TECNALIA in collaboration with centers and clinics with extensive experience in the area.

Embrión 44, XX, -16, -21. Embrión en el que se ha producido la pérdida de los cromosamas 16 y 21 Embryo 1: 44, XX, -16, -21. Chromosomes 16 and 21 are missing

Embrión 46, XX. Embrión euploide, con dotación cromosómica normal 46 XX, euploid female embryo

ADVANTAGES OF NGS TECHNOLOGY

The application of NGS technology to the analysis of embryos from IVF cycles in this type of analysis offers several advantages over other technologies:

• It allows simultaneous analysis 24 chromosomes with higher resolution.

• It offers the possibility of studying aneuploidy and monogenic diseases (caused by mutations in a single gene) separately or simultaneously in a single analysis.

• Reduced analysis time, being much faster avoiding the need to freeze the embryos while awaiting results.

• It allows the simultaneous analysis for several embryos in a single test a large number of samples, which directly affects the cost of analysis.

“NGS Technology allows to simultaneously analyze more than

500 genes associated with hereditary monogenic diseases, which is particularly

important for carrier detection.”

“This technique has been experimentally validated

by TECNALIA in collaboration with other centers and clinics

with extensive experience in IVF.”

WHEN IS IS PGD INDICATED

PGD analysis is primarily intended for:

• Women of advanced reproductive age (> 38).

• Couples with recurrent abortions and normal karyotypes.

• Couples with a history of aneuploid pregnancies.

• Males with elevated sperm aneuploidy.

• Couples at risk of transmitting chromosomal alterations or hereditary monogenic diseases (one or both parents are carriers).

• Repeated failures after IVF cycles.