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Master Thesis

Étude de la variabilité de la décision d’interruption médicale de grossesse en cas d’anomalie des gonosomes

Abstract : INTRODUCTION : Prenatal counseling for sex chromosome anomalies (SCA) is complex. The observed rate of TOP (termination of pregnancy) varies worldwide and even within countries. The objectives of this vignette study were to quantify agreement between ten prenatal diagnosis centers in Paris and identify reasons for disagreement. METHODS : We submitted online three cases of Turner syndrome, one case of Klinefelter syndrome, one 47, XYY, one mosaicsm 46,XY/45,X and two cases of 47,XXX to one obstetrician, one pediatrician and one geneticist in each of the ten parisian prenatal diagnosis centers. Experts answered online if they would or not accept couples’ demand for TOP. If experts refused, the cases continued and the experts were consulted a second time. We assessed initial and final agreement for acceptance or rejection of TOP. We qualitatively assessed the reasons for acceptance or refusal of TOP. RESULTS : Final agreement to reject TOP was respectively 28%, 74%, 80%, 100% and 74% for Turner syndrome, Klinefelter syndrome, 47,XYY, 47,XXX and mosaicism 46,XY/45,X. These results are quite different from the observed percentage of TOP: respectively 78 and 40% of TOP for Turner and Klinefelter syndrome in the Parisian registry of malformations. Reasons to accept TOP were variable for Turner syndrome, but for other SCA the majority of experts would accept for parental distress. Predominant reason for a refusal of TOP was inadequacy with french law for TOP. CONCLUSION : The results of this declarative survey show decision of TOP for SCA is difficult and subject to many tensions. It enhances the importance of managing these anomalies in specialized prenatal diagnosis centers.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01304324
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Submitted on : Tuesday, April 19, 2016 - 3:56:29 PM
Last modification on : Friday, March 27, 2020 - 2:53:30 AM
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Monika Hermann. Étude de la variabilité de la décision d’interruption médicale de grossesse en cas d’anomalie des gonosomes. Médecine humaine et pathologie. 2015. ⟨dumas-01304324⟩

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