Preimplantation Genetic Diagnosis and Screening

1. Preimplantation Genetic Diagnosis and Screening Ulun ULUĞ, M.D. Assoc. Professor German Hospital and Bahceci Women Health Care Center Istanbul, Turkey

3. 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

4. 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

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

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

7. 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

8. The parcel, embryo,have problems • Quality is reduced • Carries genetic problems • Degenerates during incubation period

9. 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

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

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

12. 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

13. 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

14. 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)

15. FISH(Floresence insitu Hybridization) • In an overnight process several chromosomes can be evaluated in a single cell and dearrangements can be accurately detected

16. Green light X chromosome Red light Y chromosome

17. What happens if gametes carry chromosomal problems • Oocyte (egg) can have problems • Sperm can have problems Man or woman may have genetic problems

18. 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

21. What are the benefits of using PGD in IVF cycles ? • To prevent existing genetic problems • To increase pregnancy rates

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