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Gruchy N.,Caen University Hospital Center | Vialard F.,Laboratory dHistologie | Decamp M.,Caen University Hospital Center | Choiset A.,Groupe Hospitalier Cochin Saint Vincent de Paul | And 11 more authors.
Human Reproduction | Year: 2011

Background 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. Methods From 1985 to 2009, 188 prenatal diagnoses of KS were made by 11 participating laboratories in mainland France. In each case, the karyotype indication, parental ages, year of prenatal testing, sampling procedure, karyotype, associated US findings and outcome were recorded. Results and Conclusions The pregnancy termination rate declined markedly over time, from 46.9 before 1997 to 11.6 thereafter, in line with the introduction of new legislation on prenatal diagnosis for medical reasons and, more specifically, the creation of multidisciplinary prenatal diagnosis centers. However, an additional microdeletion in one KS infant who exhibited echogenic bowel on US was unfortunately diagnosed postnatally. This raises the question as to whether array comparative genomic hybridization should be prenatally advised when US abnormalities are detected, in line with advice for fetuses with a normal karyotype. © 2011 The Author. Source


Gruchy N.,Caen University Hospital Center | Blondeel E.,Laboratoire dHistologie | Le Meur N.,Etablissement Francais du Sang Normandie | Joly-Helas G.,University of Monastir | And 20 more authors.
Prenatal Diagnosis | Year: 2016

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. What's Already Known About This Topic? 47,XXX and 47,XYY are often detected fortuitously during prenatal diagnosis. The phenotype associated with these conditions does not include severe malformations or psychomotor delay. What Does This Study Add? In France, the termination of pregnancy rates associated with diagnosis of 47,XXX and 47,XYY have fallen over the last few decades. This may be due (at least in part) to better knowledge of these conditions and the introduction of a multidisciplinary approach from 1997 onwards. The foetal incidence of 47,XXX was associated with advanced maternal age. © 2016 John Wiley & Sons, Ltd. Source


Gruchy N.,Caen University Hospital Center | Vialard F.,Laboratoire dHistologie | Blondeel E.,Laboratoire dHistologie | Le Meur N.,Etablissement Francais du Sang Normandie | And 20 more authors.
Prenatal Diagnosis | Year: 2014

Objectives: The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. Methods: A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. Results: Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. Conclusion: There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses. © 2014 John Wiley & Sons, Ltd. Source


Herve I.,Etablissement Francais du Sang Normandie | Simonet M.,Pole vigilances | Rebibo D.,Pole vigilances | Leconte des Floris M.-F.,Etablissement Francais du Sang Bourgogne Franche Comte | And 3 more authors.
Transfusion Clinique et Biologique | Year: 2010

Post donation information management is a fundamental axis of haemovigilance in terms of blood safety. It requires an organization ensuring a permanent reactivity, a good sensitization of French National Blood Service professionals and needs also a strong awareness of blood donors. Previous identification of stakeholders to warn during these kinds of alerts is essential to avoid the use of any blood product presenting a potential risk. The recent implementation of a consensual internal document aims to target the reinforcement of a homogeneous decision-making process, combining blood product self-sufficiency and above all recipient safety. © 2010. Source


Calle N.,Etablissement Francais du Sang Normandie | Plainfosse C.,Etablissement Francais du Sang Normandie | Georget P.,University of Caen Lower Normandy | Senemeaud C.,University of Caen Lower Normandy | Rasongles P.,Etablissement Francais du Sang Normandie
Transfusion Clinique et Biologique | Year: 2011

The supply of blood cell products requires from the National French Blood Institute (Établissement Français du Sang - EFS) to rely upon regular blood donors. Contact with donors, tailored to individuals as much as possible, helps them to donate on a regular basis. Within the context of a research program conducted with the Psychology Department of the Université de Caen Basse-Normandie, persuasive theoretical models from social psychology have been tested. These models allow adapting messages according to the motivation of donors. The content is centred on the previous donation, differently labelled according to two types of labelling: functional labelling and social labelling. Functional labelling points out the efficiency of what "has been done" (the previous blood donation), whereas social labelling emphasizes the social value of the individual. Different types of mailing invitations have been sent to 1917 donors from the Normandy database, invited to three different blood collections. Every experimental letter worked better than the standard EFS letter (which was used as the "control" letter) in terms of effective blood donation after reception of the letter. Some of the letters are more efficient in motivating donors than other ones. The letters labelling the previous blood donation as functional (efficiency of the donation) appeared more efficient than those with social label (social value) in whichever motivation induced. © 2011 Elsevier Masson SAS. Source

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