Preimplantation Genetic Diagnosis and Screening

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Preimplantation Genetic Diagnosis and Screening

• Ulun ULUG, M.D.
• Assoc. Professor
• German Hospital and Bahceci Women Health Care
  Center
• Istanbul, Turkey

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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

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• 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

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• We and our patients are happy to hug their lovely
  over ten thousand babies in a ten years of
  period.

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• The IVF success rate has been
  limited.Unfortunately not all the IVF cycles
  initiated achieve conception

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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
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The parcel, embryo,have problems

• Quality is reduced
• Carries genetic problems
• Degenerates during incubation period

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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

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• In humans, we have 23 sets of chromosomes,
  (totally 46)

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• Therefore a significant proportion of embryos
  generated during IVF carries
• chromosomal dearrangement, which we called as
  aneuploidy

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• 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

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• 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

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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)

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FISH(Floresence insitu Hybridization)

• In an overnight process several chromosomes can
  be evaluated in a single cell and dearrangements
  can be accurately detected

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Green light X chromosome Red light Y chromosome
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What happens if gametes carry chromosomal problems

• Oocyte (egg) can have problems
• Sperm can have problems

Man or woman may have genetic problems
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• 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

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What are the benefits of using PGD in IVF cycles ?

• To prevent existing genetic problems
• To increase pregnancy rates

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Indications of PGD

• Couples carrying abnormal karyotypes
• Translocations
• Mosaicism
• Sex chromosome abnormalities
• 2. Recurrent implantation failure
• Recurrent pregnancy losses
• Inherited genetic syndromes

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