1. Genetics session Case 2 Difficulty: Objectives: 1. To know the indications for PGS/PGD 2. To choose the most appropriate ART treatment in couple after previous failed treatments

2. 38y 37y Family History: nil Social History: non smoker, no alcohol, no drugs Obstetrical-Gynaecological History: Cycles 30d Absence of pain G1 P0= 1 miscarriage at 10 weeks in Feb 2013 post spontaneus pregnancy (69,XXY) with 3 yrs Unexplained Infertility

3. 3 38y 37y Prior treatments: 2013 2 cycles of programmed intercourses with Clomid 100 mg = no pregnancy 2013 4 cycles of IUI with hMG 75 IU= no pregnancy 2014 ICSI Antagonist protocol with hMG 225-300 IU = 10 oocytes, 8 zygotes, 2 embryos transferred= no pregnancy 2014 Thawing/Transfer of 2 blastocysts= no pregnancy with 3 yrs Unexplained Infertility

4. What do you propose for the next treatment? A. Programmed intercourse B. IUI C. IVF/ICSI with the possibility of PGS D. PGD

5. What do you propose for the next treatment? A. Programmed intercourse B. IUI C. IVF/ICSI with the possibility of PGS D. PGD

6. 6 Which test is mandatory before PGS on oocyte polar bodies? A.CFTR B.Karyotype C.FSH-receptor D.None of above

7. 7 Which test is mandatory before PGS on oocyte polar bodies? A.CFTR B.Karyotype C.FSH-receptor D.None of above

8. 8 When is it useless to perform PGS on polar bodies? A.If karyotype of the patient is 46 XX normal B.If karyotype shows mosaicism C.If patient is 38-40 years old D.None of above

9. 9 A.If karyotype of the patient is 46 XX normal B.If karyotype shows mosaicism C.If patient is 38-40 years old D.None of above When is it useless to perform PGS on polar bodies?

10. Treatment chosen: ICSI-PGS Protocol: long Elyfem 30LP 24.02.1525.02.15 Decapeptyl 0.05 mg 11.03.15 MeropurLuveris Gonasi 15.03.15 18.03.1529.03.1530.03.15 PICK-UP 01.04.15

11. REPORT STIM

14. 10 zygotes analysed with PGS 3 zygotes in culture for blastocyst and vitrification of 2 blastocystes 4 zygotes frozen, not analysed 17 zygotes Results of the fertilization

16. 16 Embryo transfer 1th Transfer 08.05.2015 Transfer of 2 blastocysts not analysed by PGS 20.05.2015β-hCG 614 U/l 03.06.2016US: Presence of one embryo with heartbeat 29.07.2015The Harmony Test indicates high risk of Down syndrome, confirmed by CVS 31.07.2015Termination of pregnancy

17. Inserire ciclo thawing

19. Thawing and transfer of zygotes from euploid oocytes

20. 2471

21. First Ultrasound 05.12.2015 (5 sett+1gg) 1th US at Emercency Department for vaginal bleeding: 2 gestational sacs with 2 embryos, heartbeat not visualised

22. Mettere scheda gravidanza

23. What happened? A. Mistake of the biologist and transfer of 3 embryos (couple wanted the transfer of 2 embryos) B. Transfered 2 embryos and division of one of them C. Spontaneus conception D. None of above

24. What happened? A. Mistake of the biologist and transfer of 3 embryos (couple wanted the transfer of 2 embryos) B. Transfered 2 embryos and division of one of them C. Spontaneus conception D. None of above

25. Name Surname ♀ Name Surname ♂ Data record at cryo Data record at thawing Same Criotop Colour Different Dewar Copy of the Criotop Label Original Criotop label removed at thawing

26. Name Surname ♀ D.O.B Address Unique ID Name Surname Name Surname ♂ D.O.B Address Unique ID Name Surname ♀ Name Surname ♂ Records of Cryopreservation Thawing "Order" Witness checks

27. 2.3%

28. 28