Innovators in Reproductive Genetics

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1 ANEUPLOIDY DIAGNOSTICS DIAGNOSTICS EXCELLENCE 6182 DIAGNOSTICS PERFORMED OVER 10 YEARS OF EXPERIENCE PGS-NGS 360 PGD DIAGNOSIS SINCE 2005 TRANSLOCATION DIAGNOSIS NEXT GENERATION SEQUENCING Innovators in Reproductive Genetics

2 Preimplantation Genetic Screening PGS-NGS 360 Thanks to preimplantation genetic screening within in vitro program couples, who are concerned with their children s health, can gain peace of mind. In the course of in vitro fertilization procedure, embryos are tested for genetic disorders and only those without any defects are transfered into the uterus. The performance of PGS provides many couples with the chance of having a healthy offspring. may fail due to abnormal implantation of the embryo in the uterus. The reason for this may be the occurrence of chromosomal aneuploidy (smaller or larger than the proper number of chromosomes of genetic material). Implantation of the embryo with aneuploidy may lead to the birth of a sick child e.g. with Down, Patau, Klinefelter, Edwards, Turner syndrome - however, the majority of pregnancies in such a case ends in miscarriage. The risk of chromosomal aneuploidy increases with age and it is independent of the method of conception. It is believed to be one of the major reasons causing failure in efforts of having offspring among women over the age of 35.» 2005 performance of the first PGD in Poland INVICTA Clinic! 80% Aneuploidy in oocytes and woman s age 70% 60% 50% 40% 30% 20% 10% Woman s age Percentage of oocytes with aneuploidy 1 Percentage of abortions 2 Percentage of clinical pregnancies 3 1 Practical Preimplantation Genetic Diagnosis, Yury Verlinsky, PhD; Anver Kuliev, MD, PhD; Reproductive Genetics Institute, Chicago, IL, USA 2 Centers for Disease Control and Prevention, 3 Fertility Clinic INVICTA (2012/2013)

3 » With woman s age the probability of genetic disorders of the fetus increases. Preimplantation allows you to eliminate this risk. PGS-NGS 360 Preimplantation Genetic Screening means above all: A higher rate of embryo implantation Lower risk of miscarriage Increase in the number of births In vitro without genetic risk Due to preimplantation genetic, we can diagnose at the embryo stage: Why PGS-NGS 360 Diagnosis? Comparison of patients with indications for PGS. All numerical aberrations with PGS with PGS with PGS aneuploidy and euploidy - 24 chromosomes panel (22 pairs and X and Y chromosomes) i. a: Down, Edwards, Patau, Turner, Klinefelter Syndrome All chromosomal translocations i. a: robertsonian and reciprocal All monogenic diseases with known genetic base without PGS Embryos implantation rate without PGS Birth rate without PGS The effectiveness of the in vitro program with PGS-NGS 360 without PGS

4 Indications for Genetic Screening positive genetic history of genetic diseases in the family diagnosed carriers of genetic diseases woman age - over 35 years old spontaneous miscarriages unsuccessful in vitro fertilization programs (transfer of good quality embryo) Preimplantation Genetic Screening PGS-NGS 360 protocol 1. Qualification for the Procedure selection 2. Start of Stimulation 3. Egg collection 4. Embryo culture 5. Performance of PGS-NGS 6. Embryos Transfer 7. Implantation supervision Indications after in-vitro program with PGS : Prenatal and / or Fetal Genetic Diagnosis

5 Preimplantation genetic screening at INVICTA Genetic Laboratory» the widest know-how and experience in Poland! since = * data to the end of 2013 The broadest experience in Poland The highest number of performed diagnostics * (since 2005) The joy of healthy children The latest PGS-NGS technology at INVICTA Clinic! In 2013 Genetic Laboratory INVICTA research team introduced the most advanced method of performing preimplantation genetic screening - PGS-NGS. Next Generation Sequencing is considered a reference standard for all the techniques used so far - CGH, acgh, QF-PCR. The main advantage of the new PGS-NGS 360 INVICTA technology is its extraordinary sensitivity and precision. PGS-NGS 360 INVICTA other available methods (CGH, acgh, QF-PCR) PGS-NGS PGS-NGS 360 New diagnostic possibilities! PGS-NGS 360 method (preimplantation based on next-generation sequencing platform)uses the most up-to-date techniques of human genome sequencing (reading of genetic information) for testing embryos and opens new diagnostic possibilities. It is used as a part of in vitro fertilization and provides comprehensive information concerning embryo s DNA for diseases or genetic mutations. It provides physicians with a unique opportunity to help couples who are exposed to an increased risk of genetic abnormalities in the fetus. PGS-NGS other available methods Result credibility PGS-NGS other available methods Precise reading of genetic information other available methods Amount of information to be read

6 PGS-NGS 360 Diagnosis using Next Generation Sequencing - INVICTA first in the world! PGD HLA for child s stem cell transplantation to sick siblings. PGD Proprietary Diagnostics for genetically conditioned hearing - INVICTA first in the world! Certificate of innovation for the development of PGD Preimplantation Diagnosis. PGD Proprietary Diagnosis for mitochondrial cytopathy - Cox syndrome - INVICTA first in the world! PGD Proprietary Diagnosis for Smith Lemli Opitz syndrome (SLOS) - INVICTA first in the world! Preimplantation Genetic Diagnosis PGD. Directional cells and embryos test. The first PGD in Poland! INV.10.MAR.PRO _EN INVICTA Genetic Laboratory Gdańsk Science and Technology Park Trzy Lipy 3, Gdańsk T: M: pgd@invicta.pl