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

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

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

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

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

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

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 years old D.None of above

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

Treatment chosen: ICSI-PGS Protocol: long Elyfem 30LP Decapeptyl 0.05 mg MeropurLuveris Gonasi PICK-UP

REPORT STIM

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

Inserire ciclo thawing

Thawing and transfer of zygotes from euploid oocytes

2471

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

Mettere scheda gravidanza

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

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

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

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

2.3%

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