Problem Challenge Need. Solution Innovation Invention
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1
2 Problem Challenge Need Solution Innovation Invention
3 Tubal Infertility
4 In-vitro Fertilisation
5 Steptoe and Edwards Birth after the reimplantation of a human embryo. Lancet 1978
6 Louise Brown, 25. Juli 1978 Lesley and John Brown Patrick Steptoe, Robert Edwards
7 Male Infertility
8 Intracytoplasmic Sperm Injection (ICSI)
9 Palermo G Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 1992
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11 Advanced female age
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13 Advancing female age
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15 Preimplantation genetic screening (PGS)?
16 P
17 P
18 P (+C21) (+C21)
19 Verlinsky Y Ginsberg N, Lifchez A. et al. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990
20 1st polar 1 st body 11st polar polar body body meiosis I meiosis II 22nd polar polar body body oocyte Oocyte metaphase I metaphase I oocyte Oocyte metaphase II metaphase II fertilized oocyte Oocyte fertilized
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25 Handyside Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989
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30 Staessen Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004
31 Hardarson Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod. 2008
32 Mastenbroek In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007
33 Evidence against the use of PGS for advanced maternal age patients when performing IVF. 1. Day 3 Blastomere Biopsy 2. Removal of 2 cells 3. FISH Analysis of only few chromosomes
34 1 2
35 De Vos Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers. Hum Reprod. 2009
36 At least 9 chromosomes should be tested: # chromosomes analyzed % Abnormal fetuses detected % 47 % 70 % 80 % 100 %
37 Blastocyst Culture Vitrification Biopsy
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42 Benefits: More DNA more robust diagnosis Reduces error rate Reduced impact of embryo biopsy Less embryos to process Facilitates single embryo transfer Uterine environment optimized after thaw
43 24 chromosome analysis by arrray technology
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47 Scott Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril. 2013
48 Next generation sequencing
49 Day 1 Polarbody Biopsy Day 3 Blastomere Biopsy Day 5 Throphoblast Biopsy
50 Idiopathic repeated pregnancy loss (RPL)
51 Preimplantation genetic screening (PGS)
52 Werlin Preimplantation genetic diagnosis (PGD) as both a therapeutic and diagnostic tool in assisted reproductive technology. Fertil Steril 2003 Munné Preimplantation genetic diagnosis reduces pregnancy loss in women 35 and older with a history of recurrent miscarriages. Fertil Steril 2005 Garrisi Effect of infertility, maternal age, and number of previous miscarriages on the outcome of preimplantation genetic diagnosis for idiopathic recurrent pregnancy loss. Fertil Steril 2009 Rubio Prognosis factors for Preimplantation Genetic Screening in repeated pregnancy loss. Reprod Biomed Online 2009
53 Down Syndrome BRCA 1 Mutation Homozygotic Myopia Schizophrenia
54 Monogenetic diseases
55 Preimplantation genetic diagnosis (PGD)
56 Affected first child
57 Designerbaby Saviour sibling
58 Kahraman S Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Reprod Biomed Online. 2014
59 HLA System
60 Beta-thalassaemia Wiskott-Aldrich syndrome Fanconi anaemia Sickle cell anaemia Acute myeloid leukaemia Acute lymphoblastic leukaemia Glanzmann's thrombasthaenia Diamond-Blackfan anaemia X-linked adrenoleukodystrophy Mucopolysaccharidosis type I
61 Würfel W Pregnancy and Birth After a Two-Step PGD: Polar Body Diagnosis for Hemophilia A and Array CGH on Trophectoderm Cells for Chromosomal Aberrations. Geburtshilfe Frauenheilkd. 2013
62 Advanced female age
63 Advancing female age
64 Social egg freezing
65
66 Genetic diseases Down syndrome BRCA 1 Mutation Chorea Huntington Muscular dystrophy Duchenne Cystic fibrosis
67 Preconception Assisted Reproduction Early pregnancy Carrier Screening (Recombine) Day 1 Polarbody Biopsy Day 5 Trophoblast Biopsy Non Invasive Prenatal testing (Prena, NIPT)
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