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"Preimplantation genetic diagnosis and screening"
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"Preimplantation genetic diagnosis and screening"






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    "Preimplantation genetic diagnosis and screening" "Preimplantation genetic diagnosis and screening" Presentation Transcript

    • Preimplantation Genetic Diagnosis and Screening
      • Ulun ULUĞ, M.D.
      • Assoc. Professor
      • German Hospital and Bahceci Women Health Care Center
      • Istanbul, Turkey
    • Bahceci Women Health Care Centers
      • German Hospital in Istanbul
      • Umut IVF Center in Istanbul
      • Magosa IVF Center in Northern Cyprus
      • B aku IVF Center in Azarbajcan
      • Erbil IVF Center in Northern Iraq
      • In 2007, 4768 IVF/ICSI cycles have been performed
      • Up to date, almost 25000 IVF/ICSI cycles had been carried out by our centers
      • The leading IVF center in Turkey
      • Ranked 5th among all the IVF centers all around the world by Organon Inc company
      • We and our patients are happy to hug their lovely over ten thousand babies in a ten years of period.
      • The IVF success rate has been limited.Unfortunately not all the IVF cycles initiated achieve conception
    • Reasons; why we have not 100% pregnancy rates ?
      • The host, the woman, can have problems:
      • Coexisting medical diseases
      • Hormonal disturbances
      • Tendency to thrombosis
      • … .
      • … .
      • … .
      Affects Endometrium Receptivity is impaired
    • The parcel, embryo, have problems
      • Quality is reduced
      • Carries genetic problems
      • Degenerates during incubation period
    • Genetic problems of embryos
      • In women less than 35 years old 30-40 % of embryos have aneuploidy
      • In women over 37 years old, 70% of embryos have aneuploidy
      • In humans, we have 23 sets of chromosomes, (totally 46)
      • Therefore a significant proportion of embryos generated during IVF carries
      • chromosomal dearrangement, which we called as aneuploidy
      • Investigating of human chromosomes in cells called as karyotyping. The whole 46 chromosomes are mapped with special methods.
      • This process needs time at least 1 week
      • However during IVF, we have to transfer embryos in a limited time such as in 5 days
      • It is impossible to use standard karyotyping process in embryos
    • The most detected chromosomal abnormalities in pregnancies ended by spontaneous abortion
      • Monosomy X (45 chromosomes)
      • Trisomy 16 ( 3 sets from ch 16)
      • Trisomy 21 ( 3 sets from ch 21, Down syndrome)
      • Trisomy 13
      • Trisomy 18
      • Polyploidy (3 sets of all chromosomes)
    • FISH (Floresence insitu Hybridization)
      • In an overnight process several chromosomes can be evaluated in a single cell and dearrangements can be accurately detected
    • Green light X chromosome Red light Y chromosome
    • What happens if gametes carry chromosomal problems
      • Oocyte (egg) can have problems
      • Sperm can have problems
      Man or woman may have genetic problems
      • PGD enables us to select healthy embryos from couples suffering genetic illness (hemophilia, Duchene muscular distrophy, thalasemmia….)
      • Therefore existing genetic problem will not be transferred to offspring and healty children could be born
    • What are the benefits of using PGD in IVF cycles ?
      • To prevent existing genetic problems
      • To increase pregnancy rates
    • Indications of PGD
      • Couples carrying abnormal karyotypes
      • Translocations
      • Mosaicism
      • Sex chromosome abnormalities
      • 2 . Recurrent implantation failure
      • Recurrent pregnancy losses
      • Inherited genetic syndromes