Genetics session Case 1 Difficulty: Objectives: 1. To know the indications for PGS/PGD 2. To choose the most appropriate ART treatment in couples who are carriers genetic disease

35y 32y Family History: nil Social History: non smoker, no alcohol, no drugs Desire of pregnancy. Both carriers of Gaucher Disease

Obstetrical-Gynaecological History: Cycles: regular G2 P1 L0 2013: Serial US at weeks of pregnancy diagnosed SGA, hydrops fetalis, limbs deformity Termination of pregnancy at 25 weeks = Diagnosis of Gaucher disease after autopsy, confirmed by genetic testing 2015: CVS at 13 weeks=diagnosis of Gaucher disease Termination of pregnancy at 13 weeks

What is Gaucher Disease (GD)? Genetic autosomal recessive Lysosomal storage disorders, 3 Forms: GD Type 1: chronic non-neurological, with organomegaly, bone anomalies… GD Type 2:acute neurological form; early onset; death before age of 2y GD Type 3: onset by children and adolescent : progressive encephalopathy GD fetal form: decrease/absence fetal movements and anasarca Cause of Gaucher D: Mutation in GBA gene ( chr 1): deficiency of glucocerebrosidase Annual incidence of GD:General population:1/ Ashkenazi Jewish:1/1.000

A. PGS on polar bodies B. PGD on trophectoderm C. PGD on polar bodies D. PGD on embryos Which technique of ART in Switzerland would you propose to avoid a pregnancy with Gaucher disease?

A. PGS on polar bodies B. PGD on trophectoderm C. PGD on polar bodies D. PGD on embryos Which technique of ART in Switzerland would you propose to avoid a pregnancy with Gaucher disease?

Results of ovarian reserve FSH 7.2 mIU/ml LH 5.0 mIU/ml E2 92 pmol/l AMH14.9 pmol/l AFC 6+5 PRL normal TSH normal

Can we propose PGD with this ovarian reserve? A. Yes B. No C. I do not Know D. Perhaps

Can we propose PGD with this ovarian reserve? A. Yes B. No C. I do not Know D. Perhaps

Mettere transfer con embrioni zoni (transfer + primo e secondo embrione

Il feto non è portatore della mutazione materna, esclusa anche precedentemente tramite diagnosi preimpianto sui globuli polari. Il feto è portatore della mutazione paterna. Il feto della coppia non sarà affetto dalla malattia di Gaucher.