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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani 1 Laurence Cuisset 2 Pierre Boisseau 3 Olivier Pichon 4 Marine Lebrun 5, 6 Houda Hamdi‐rozé 6 Marie-Laure Maurin 7 Nicolas Gruchy 8 Marie‐christine Manca‐pellissier 9 Perrine Malzac 10 Frédéric Bilan 11 Marie-Pierre Audrézet 12 Pascale Saugier‐veber 13, 14 Anne‐laure Fauret‐amsellem 15 Chantal Missirian 16 Paul Kuentz 17 Grégory Egea 18 Agnès Guichet 19 Isabelle Creveaux 20 Caroline Janel 21 Ines Harzallah 22 Renaud Touraine 23 Carole Goumy 24 Nicole Joyé 25 Jacques Puechberty 26 Emmanuelle Haquet 27 Sandra Chantot-Bastaraud 28 Sébastien Schmitt 29 Philippe Gosset 30 Bénédicte Duban-Bedu 31 Bruno Delobel 32 Philippe Vago 33, 34 François Vialard 35 Denise Molina Gomes 36, 37 Jean‐pierre Siffroi 38 Jean-Paul Bonnefont 39 Jean-Michel Dupont 40 Philippe Jonveaux 41 Martine Doco‐fenzy 42 Damien Sanlaville 43 Cedric Le Caignec 44
Abstract : Objective: Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such a fetus presents a UPD has been previously estimated to be around ~0.6‐0.8%. However, because UPD are rare events and this estimate has been calculated from a number of studies of limited size, we have reevaluated the risk of UPD in fetuses for whom one of the parents was known to carry a nonhomologous ROB (NHROB). Method: We focused our multicentric study on NHROB involving chromosome 14 and/or 15. A total of 1747 UPD testing were performed in fetuses during pregnancy for the presence of UPD(14) and/or UPD(15). Result: All fetuses were negative except one with a UPD(14) associated with a maternally inherited rob(13;14). Conclusion: Considering these data, the risk of UPD following prenatal diagnosis of an inherited ROB involving chromosome 14 and/or 15 could be estimated to be around 0.06%, far less than the previous estimation. Importantly, the risk of miscarriage following an invasive prenatal sampling is higher than the risk of UPD. Therefore, we do not recommend prenatal testing for UPD for these pregnancies and parents should be reassured.
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Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, Olivier Pichon, Marine Lebrun, et al.. Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?. Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩. ⟨hal-02343373⟩

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