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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study
Author(s) -
Gruchy Nicolas,
Blondeel Eleonore,
Le Meur Nathalie,
JolyHélas Géraldine,
Chambon Pascal,
Till Marianne,
Herbaux Martine,
VigourouxCastera Adeline,
Coussement Aurélie,
Lespinasse James,
Amblard Florence,
Jimenez Pocquet Mélanie,
LebelRoy Camille,
CarréPigeon Frédérique,
Flori Elisabeth,
Mugneret Francine,
Jaillard Sylvie,
Yardin Catherine,
Harbuz Radu,
CollongeRame MarieAgnès,
Vago Philippe,
Valduga Mylène,
Leporrier Nathalie,
Vialard François
Publication year - 2016
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.4817
Subject(s) - medicine , prenatal diagnosis , retrospective cohort study , pediatrics , pregnancy , context (archaeology) , obstetrics , gestational age , cohort , fetus , surgery , paleontology , genetics , biology
Objective Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. Methods This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Results Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). Conclusion The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.