Genetic Laboratory PGD ONE. Preimplantation Diagnosis for monogenic diseases. Innovators in Reproductive Genetics

Transcription

1 Genetic Laboratory PGD ONE Preimplantation Diagnosis for monogenic diseases Innovators in Reproductive Genetics

2 PGD ONE PGD ONE is a preimplantation genetic diagnosis for monogenic diseases. 6World s th According to the ESHRE PGD Consortium* PGD Lab Table 1. Approximate frequency of some of the most common Mendelian disorders in the UK population. Source: Genetic Disorder Autosomal dominant Familial combined hyperlipidaemia Familial hypercholsterolaemia Dominant otosclerosis 1.0 Adult polycystic kidney disease 0.8 Multiple exostoses 0.5 Huntington's disease 0.5 Frequency per 1000 births. Autosomal recessive Cystic fibrosis 0.4 alpha-1-antitrypsin deficiency 0.2 Phenylketonuria 0.1 Congenital adrenal hyperplasia Spinal muscular atrophy Sickle cell anaemia 0.1 Fragile X syndrome X-Linked recessive Duchenne muscular dystrophy X-linked ichthyosis 0.2 Haemophilia A 0.1 Becker muscular dystrophy 0.05 Haemophilia B ,813 2,045 Experience matters January 2005 April 2015 cycles, average patient s age: 36.5 ± 4.6 years embryos without genetic load 7,139 6,628 49,4% embryos underwent diagnosis diagnostic embryos tested Pregnancy success rate * concerning number of PGD/PGS procedures conducted

3 What is PGD ONE? PGD ONE is a test that detects the genetic defects (mutations) inherited by a child from their parents. DNA material from embryos is analysed prior to transfer to the uterus, that is, before the woman actually becomes pregnant. The test can be carried out on material collected by biopsy in the 3rd (blastomere) or 5th/6th (trophectoderm cells) day of the embryo culture. Because of the risk of misdiagnosis caused by the pollution of sperm when using standard in vitro fertilization, the ICSI procedure is recommended. Any diagnosis of PGD ONE is treated individually and preceded by an examination of the material from the prospective parents. Under the procedure, a frozen embryos transfer (FET) is required. Why is it worth to perform PGD ONE? Possibility of diagnosing any known genetic-based monogenic disease at the embryo stage, and reducing the risk of its occurrence in your child Possibility of conducting a PGS-NGS 360 (Preimplantation Genetic Screening) from a single sample (single biopsy) at the same time reducing the risk of monogenic diseases and genetic defects resulting from an abnormal number of chromosomes What are the indications for PGD ONE? People with a genetic test result confirming a clinical diagnosis of monogenic disease People with a genetic test result confirming the presence of mutation carriers The presence of inherited genetic diseases or a history of specific mutation in the family INVICTA Genetic Laboratory offers: Free PGD BIOPSY KIT Free shipment Online access to results NGS Next Generation Sequencing

4 Cooperation step by step 1 Diagnosis of parents Development of the diagnosis Development of an individual preimplantation genetic diagnosis, based on the material collected from the patients and the subsequent genetic laboratory results. Upon request, INVICTA sends a SALIVA KIT for collection of biological material from the parents and relatives (if required). 2 Biopsy Embryo biopsy A sample is collected via biopsy of an embryo on the 3rd or 5/6th day of the culture. Blastomere or trophectoderm cells are used for testing. Completion of the biopsy report 3 Transport Preparation of material for transport Preparation of shipping document Until dispatch, the material sample is stored at -20 C. For transportation, 3 cooling cartridges are used that are also frozen to -20 C. The cartridges are placed around the test-tube rack inside the box. Shipment to the INVICTA Genetic Laboratory During transport, the biopsy material is kept cool, or preferably frozen. Transport duration depends on the time and place of shipment. 4 Result Results available within 3 weeks Shipping address: INVICTA Genetic Laboratory Gdańsk Science and Technology Park Trzy Lipy 3, Gdańsk E mail: info@invictagenetics.com Tel.: Ready to use universal INVICTA PGD BIOPSY KIT NGS methodology Sample preparation Libraries preparation with barcoding Sequence preparation Information read-out Data analysis Limitations PGD ONE is individually designed preimplantation genetic diagnosis for particular patients in order to exclude transmission to descendant a genetic feature proven to be a cause of disease by test results from genetic diagnostics laboratory. Performing PGD ONE does not exclude risk of genetic disease, which may be resulted from other factors, e.g. de novo mutations, undiagnosed mutations, or other genetic diseases.

5 The world s first use of NGS (Next Generation Sequencing) in the PGD ONE preimplantation diagnosis for monogenic diseases. INVICTA Genetic Laboratory: February 2015 PGD ONE can now diagnose any known genetic-based monogenic disease. Table 2. Twenty of the most routinely sought point mutations in a PGD ONE preimplantation diagnosis at the INVICTA Genetic Laboratory. Genetic disorder Gene/Locus Genetic disorder Gene/Locus Cystic fibrosis (CF), Mucoviscidosis CFTR Haemophilia A F8 Smith-Lemi-Opitz syndrome (SLOS) Muscular dystrophy (DMD) Deafness, autosomal recessive 1A (DFNB1A) Huntington disease (HD) DHCR7 DMD GJB2 HD Facioscapulohumeral muscular dystophy 1 (FSHD1) Epidermolysis bullosa simplex (EBS) Congenital disorder of glycosylation, type 1a (CDG1A) FSHD KRT14 PMM2 Autosomal Dominant Polycystic Kidney Disease 1 (ADPKD1) PKD Pituitary hormone deficiency, combined, 2 (CPHD2) PROP1 Spinal muscular atrophy Adenylosuccinase Deficiency Familial adenomatous polyposis 1 (FAP1) Argininosuccinic aciduria SMN1 ADSL APC ASL Cardioencephalomyopathy Loeys-Dietz syndrome Tuberous sclerosis 1 (TSC1) SCO2 TGFBR TSC1 Osteogenesis imperfecta, type IV (OI Type IV) COL1A1 Wiskott-Aldrichsyndrome (WAS) WAS NGS Next Generation Sequencing used in the PGD ONE is currently the most up-to-date method of DNA analysis in the world. It provides exceptionally accurate, reliable and comprehensive results, from which it is possible to reduce the risk of monogenic diseases in babies. 99,999% NGS provides accuracy of % (Q50 quality assessment by Phred Quality Scores indicator developed for evaluation of DNA sequence analysis methods).

6 Team Prof. Krzysztof Łukaszuk MD, Ph. D. Medical Director of INVICTA Fertility Clinics Bożena Maj M. Sc. Director of INVICTA Medical Laboratories Sebastian Pukszta Ph.D. INVICTA Genetic Laboratory Deputy Laboratory Manager for Molecular Biology Joanna Liss Ph.D Director of INVICTA IVF Laboratory Literature 1. Lukaszuk K, Kalwak K, Pukszta S, Liss J, Jakiel G, Woclawek-Potocka I, Galvao A, Wasniewski T. Preimplantation genetic diagnosis of human leukocyte antigen for X-linked immunoproliferative syndrome caused by SAP mutation. 2. Eur J Obstet Gynecol Reprod Biol Nov;182: doi: /j. ejogrb Epub 2014 Sep Treff NR, Fedick A, Tao X, [et.al.]. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013, 99(5), Corrales I, Catarino S, Ayats J, Arteta D, Altisent C, Parra R, et al. High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods. Haematologica 2012;97: Rechitsky S, Pakhalchuk T, San Ramos G, Goodman A, Zlatopolsky Z, Kuliev A.First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing. Fertil Steril Feb;103(2): doi: /j.fertnstert Epub 2014 Dec Berger VK, Baker VL. Preimplantation diagnosis for single gene disorders. Semen Reprod Med Mar;32(2): doi: /s Epub 2014 Feb Daina G, Ramos L, Obradors A, Rius M, Martinez-Pasarell O, Polo A, Del Rey J, Obradors J, Benet J, Navarro J. First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening. Clin Genet Jul;84(1):70-3. doi: /cge Epub 2012 Oct Chang LJ, Chen SU, Tsai YY, Hung CC, Fang MY, Su YN, Yang YS. An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening. Clin Exp Reprod Med Sep;38(3): doi: /cerm Epub 2011 Sep Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, Pehlivan Budak T, Renwick P, De Rycke M, Geraedts JP, Harton G. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update MayJun;18(3): doi: /humupd/dmr052. Epub 2012 Feb 16. Review. 10. Field PD, Martin NJ. CFTR mutation screening in an assisted reproductive clinic. Aust N Z J Obstet Gynaecol Dec;51(6): doi: /j X x. Epub 2011 Aug Preimplantation genetic diagnosis: state of the art Harper JC, Sengupta SB. Hum Genet Feb;131(2): doi: /s z. Epub 2011 Jul 12. Review. 12. Peyvandi F, Garagiola I, Mortarino M.Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world. Haemophilia Jul;17 Suppl 1:14-7. doi: /j x. 13. Simpson JL. Preimplantation genetic diagnosis at 20 years. Prenat Diagn Jul;30(7): doi: /pd Review. 14. Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, Steffann J, LeLorc h M, Achour-Frydman N. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol Jul;145(1):9-13. doi: /j. ejogrb Epub 2009 May Gutiérrez-Mateo C, Sánchez-García JF, Fischer J, Tormasi S, Cohen J, Munné S, Wells D. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril Nov;92(5): doi: /j.fertnstert Epub 2008 Oct 19. INV.10.MAR.PRO _EN INVICTA Genetic Laboratory Customer Service Gdańsk Science and Technology Park Trzy Lipy 3, Gdańsk T: M: info@invictagenetics.com T: F: