Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study
| Autor: | Mylène Valduga, Catherine Yardin, François Vialard, Marie-Agnès Collonge-Rame, Nathalie Leporrier, Marianne Till, Camille Lebel-Roy, Nicolas Gruchy, Nathalie Le Meur, Frédérique Carré-Pigeon, Sylvie Jaillard, Eleonore Blondeel, Radu Harbuz, Pascal Chambon, A. Vigouroux-Castera, Géraldine Joly-Helas, Elisabeth Flori, Martine Herbaux, James Lespinasse, Mélanie Jimenez Pocquet, Francine Mugneret, Florence Amblard, Philippe Vago, Aurélie Coussement |
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| Rok vydání: | 2016 |
| Předmět: |
Pregnancy
Pediatrics medicine.medical_specialty 030219 obstetrics & reproductive medicine medicine.diagnostic_test business.industry Obstetrics and Gynecology Retrospective cohort study Context (language use) Prenatal diagnosis medicine.disease 3. Good health 03 medical and health sciences 0302 clinical medicine XYY Karyotype medicine Amniocentesis Advanced maternal age business 030217 neurology & neurosurgery Genetics (clinical) Cohort study |
| Zdroj: | Prenatal Diagnosis. 36:523-529 |
| ISSN: | 0197-3851 |
| DOI: | 10.1002/pd.4817 |
| Popis: | 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 (MCPDs) 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 MCPDs |
| Databáze: | OpenAIRE |
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