title: Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.
abstract: 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.
  
  
  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.
authors: Laboratoire de cytogénétique prénatale, Service de Génétique, CHU Caen Côte de Nacre, UFR de Médecine Caen, F-14033 Caen cedex 9, France. gruchy-n@chu-caen.fr
authors: N
authors: N
authors: Gruchy
authors: F
authors: F
authors: Vialard
authors: M
authors: M
authors: Decamp
authors: A
authors: A
authors: Choiset
authors: A
authors: A
authors: Rossi
authors: N
authors: N
authors: Le Meur
authors: H
authors: H
authors: Moirot
authors: C
authors: C
authors: Yardin
authors: M N
authors: MN
authors: Bonnet-Dupeyron
authors: J
authors: J
authors: Lespinasse
authors: M
authors: M
authors: Herbaut-Graux
authors: M
authors: M
authors: Till
authors: V
authors: V
authors: Layet
authors: N
authors: N
authors: Leporrier
mesh_terms: D000028:Abortion, Induced / Q000706:statistics & numerical data*; D030881:Disclosure; D005260:Female; D005602:France; D005817:Genetic Counseling; D006801:Humans; D059785:Karyotype; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis