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Published on: September 1, 2009
[Anomalies of sex chromosomes in amniocentesis]
Ariane Paoloni-Giacobino1, Sophie Dahoun, Hanane Hamany
1Division de Génétique Médicale Hôpitoux Universitaires de Genève.
Abstract:
When sex chromosome abnormalities are detected by amniocentesis, the concerned couples have to face a difficult decision with regards to the pregnancy issue. Indeed the prognosis of these chromosomal abnormalities is favorable, developmental defects being generally not considered as severe. We have analysed 113 cases of sex chromosome abnormalities detected by amniocentesis and compared the pregnancy issues. The cases were obtained from the Centre Hospitalier de Chambéry and the Hôpitaux Universitaires de Genève. When such abnormalities are detected, the couple's decision can be variable, depending on many factors, as the country of origin. The goal of genetic counseling is to provide as many informations as possible to the concerned couples, in order to let them make an informed decision.
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