title: Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
abstract: 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).
  
  
  CONCLUSIONS
  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. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Service de Génétique, Laboratoire de cytogénétique prénatale, CHU Côte de Nacre, UFR de Médecine Caen, Caen, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gruchy
authors.affiliation: Laboratoire d'Histologie, Embryologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, CHI Poissy Saint Germain, Poissy, France.
authors.forename: Eleonore
authors.initials: E
authors.lastname: Blondeel
authors.affiliation: Etablissement Français du Sang Normandie, Bois-Guillaume, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Le Meur
authors.affiliation: Laboratoire d'Histologie, cytogénétique et biologie de la reproduction, Fédération de Génétique, Faculté de Médecine, CHU de Rouen, Rouen, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Joly-Hélas
authors.affiliation: Laboratoire d'Histologie, cytogénétique et biologie de la reproduction, Fédération de Génétique, Faculté de Médecine, CHU de Rouen, Rouen, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Chambon
authors.affiliation: Service de cytogénétique, GHE, CBPE Hôpitaux de Lyon, Bron, France.
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.affiliation: Laboratoire Biolille, Lille, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Herbaux
authors.affiliation: Service de Génétique médicale, CHU Purpan, Toulouse, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux-Castera
authors.affiliation: Groupe hospitalier Cochin Saint Vincent de Paul, APHP, Paris, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Coussement
authors.affiliation: Service de Génétique, Hôpital de Chambéry, Chambéry, France.
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.affiliation: Service de Génétique Chromosomique, CHU de Grenoble, Grenoble, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Amblard
authors.affiliation: Service de Génétique UF Cytogénétique, CHRU de Tours, Tours, France.
authors.forename: Mélanie
authors.initials: M
authors.lastname: Jimenez Pocquet
authors.affiliation: Laboratoire de biologie médicale et cytogénétique, Fort de France, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Lebel-Roy
authors.affiliation: Service de Génétique HMB, CHRU Reims, Reims, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Carré-Pigeon
authors.affiliation: Service de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.affiliation: Laboratoire de Cytogénétique, CHU de Dijon, Dijon, France.
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.affiliation: Service de cytogénétique et biologie cellulaire, CHU Pontchaillou, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jaillard
authors.affiliation: Cytologie et Cytogénétique, Service d'Histologie, Hôpital de la Mère et de l'Enfant, CHU de Limoges, Limoges, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Yardin
authors.affiliation: Service de Génétique, Laboratoire de génétique biologique, CHU de Poitiers, Poitiers, France.
authors.forename: Radu
authors.initials: R
authors.lastname: Harbuz
authors.affiliation: Service de génétique biologique, histologie, biologie du développement et de la reproduction, CHRU Besançon, Hôpital Saint-Jacques, Besançon, France.
authors.forename: Marie-Agnès
authors.initials: MA
authors.lastname: Collonge-Rame
authors.affiliation: UFR Médecine, Histologie Embryologie Cytogénétique, Univ Clermont 1, Clermont-Ferrand, France.|Cytogénétique Médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.|UFR Médecine, Univ Clermont 1, Clermont-Ferrand, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
authors.affiliation: Laboratoire de génétique médicale, Service de cytogénétique et génétique moléculaire, CHU de Nancy, Vandoeuvre-Les-Nancy, France.
authors.forename: Mylène
authors.initials: M
authors.lastname: Valduga
authors.affiliation: Service de Génétique, Laboratoire de cytogénétique prénatale, CHU Côte de Nacre, UFR de Médecine Caen, Caen, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Leporrier
authors.affiliation: Laboratoire d'Histologie, Embryologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, CHI Poissy Saint Germain, Poissy, France.|EA7404, GIG, UFR des sciences de la Santé,, Montigny le bretonneux.
authors.forename: François
authors.initials: F
authors.lastname: Vialard
mesh_terms: D000028:Abortion, Induced / Q000706:statistics & numerical data* / Q000639:trends; D000022:Abortion, Spontaneous / Q000453:epidemiology*; D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D041321:Chromosomes, Human, X; D015331:Cohort Studies; D005260:Female; D005313:Fetal Death; D005602:France / Q000453:epidemiology; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology*; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000453:epidemiology*; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000453:epidemiology*; D014314:Trisomy / Q000175:diagnosis; D014997:XYY Karyotype / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000453:epidemiology*