Premium
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?
Author(s) -
Moradkhani Kamran,
Cuisset Laurence,
Boisseau Pierre,
Pichon Olivier,
Lebrun Marine,
HamdiRozé Houda,
Maurin MarieLaure,
Gruchy Nicolas,
MancaPellissier MarieChristine,
Malzac Perrine,
Bilan Frédéric,
Audrezet MariePierre,
SaugierVeber Pascale,
FauretAmsellem AnneLaure,
Missirian Chantal,
Kuentz Paul,
Egea Gregory,
Guichet Agnès,
Creveaux Isabelle,
Janel Caroline,
Harzallah Ines,
Touraine Renaud,
Goumy Carole,
Joyé Nicole,
Puechberty Jacques,
Haquet Emmanuelle,
ChantotBastaraud Sandra,
Schmitt Sébastien,
Gosset Philippe,
DubanBedu Bénédicte,
Delobel Bruno,
Vago Philippe,
Vialard François,
Gomes Denise Molina,
Siffroi JeanPierre,
Bonnefont JeanPaul,
Dupont JeanMichel,
Jonveaux Philippe,
DocoFenzy Martine,
Sanlaville Damien,
Le Caignec Cédric
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5518
Subject(s) - uniparental disomy , miscarriage , fetus , chromosomal translocation , robertsonian translocation , prenatal diagnosis , obstetrics , pregnancy , chorionic villus sampling , genetics , biology , medicine , chromosome , karyotype , gene
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.