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Multicenter Study
. 2019 Oct;39(11):986-992.
doi: 10.1002/pd.5518. Epub 2019 Aug 19.

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  1 , Olivier Pichon  1 , Marine Lebrun  3 , Houda Hamdi-Rozé  4 , Marie-Laure Maurin  5 , Nicolas Gruchy  6 , Marie-Christine Manca-Pellissier  7 , Perrine Malzac  7 , Frédéric Bilan  8 , Marie-Pierre Audrezet  9 , Pascale Saugier-Veber  10 , Anne-Laure Fauret-Amsellem  11 , Chantal Missirian  7 , Paul Kuentz  12 , Gregory Egea  13 , Agnès Guichet  14 , Isabelle Creveaux  15 , Caroline Janel  15 , Ines Harzallah  3 , Renaud Touraine  3 , Carole Goumy  16   17 , Nicole Joyé  18 , Jacques Puechberty  19 , Emmanuelle Haquet  19 , Sandra Chantot-Bastaraud  20 , Sébastien Schmitt  1 , Philippe Gosset  21 , Bénédicte Duban-Bedu  22 , Bruno Delobel  22 , Philippe Vago  16   17 , François Vialard  23   24 , Denise Molina Gomes  23   24 , Jean-Pierre Siffroi  18 , Jean-Paul Bonnefont  5 , Jean-Michel Dupont  25 , Philippe Jonveaux  26 , Martine Doco-Fenzy  27 , Damien Sanlaville  28   29 , Cédric Le Caignec  1
Affiliations
Multicenter Study

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 et al. Prenat Diagn. 2019 Oct.

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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References

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