Open AccessPregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome
Author(s) -
Nicolas Gruchy,
François Vialard,
Matthieu Décamp,
Agnès Choiset,
Anderson Diniz Rossi,
Nathalie Le Meur,
Hélène Moirot,
Catherine Yardin,
M.N. Bonnet-Dupeyron,
J. Lespinasse,
M. Herbaut-Graux,
Marianne Till,
Valérie Layet,
Nathalie Leporrier
Publication year - 2011
Publication title -
human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.446
H-Index - 226
eISSN - 1460-2350
pISSN - 0268-1161
DOI - 10.1093/humrep/der193
Subject(s) - prenatal diagnosis , klinefelter syndrome , pregnancy , genetic counseling , medicine , aneuploidy , obstetrics , pediatrics , chorionic villus sampling , turner syndrome , gynecology , fetus , chromosome , genetics , biology , gene
Klinefelter syndrome (KS), a common sex chromosome aneuploidy (47,XXY) is diagnosed prenatally with an incidence of 0.15%. The diagnosis is generally incidental, since there are no typical malformations on ultrasound (US). Once detected, genetic counseling is often difficult and the parents' decision to continue or terminate the pregnancy is greatly dependent on the amount and nature of the information provided. We sought to assess the pregnancy outcomes (i.e. continuation versus termination) and the influence of multidisciplinary centers for prenatal diagnosis on parental decisions in cases of KS.
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