title: Low uptake of prenatal diagnosis after established carrier status of a balanced structural chromosome abnormality in couples with recurrent miscarriage.
abstract: OBJECTIVE
  To evaluate to what extent couples carrying a balanced structural chromosome abnormality follow up the advice to opt for invasive prenatal diagnosis (PND) in subsequent pregnancies.
  
  
  METHODS
  Index-control study.
  
  
  METHODS
  Six centers for Clinical Genetics in The Netherlands.
  
  
  METHODS
  Couples referred for chromosome analysis after recurrent miscarriage between 1992 and 2001 and with at least one pregnancy after disclosure; 239 carrier couples and 389 noncarrier couples.
  
  
  METHODS
  Questionnaire, medical record checking.
  
  
  METHODS
  Uptake of invasive PND.
  
  
  RESULTS
  Only 53 of 239 (22%) carrier couples underwent a PND procedure (CVS or amniocentesis) in all subsequent pregnancies. A relatively high number, 105 (44%) carrier couples, refrained from PND in all subsequent pregnancies. More carrier couples with maternal age >or=36 years (20/33 = 61%) refrained from PND, compared with carrier couples with maternal age <36 years (85/206 = 41%). In women >or=36 years, an equal proportion of carrier and noncarrier couples refrained from PND (61% vs. 54%).
  
  
  CONCLUSIONS
  The advice to opt for invasive PND in carrier couples is poorly followed, especially in carrier couples with maternal age >or=36 years. The motivations of carrier couples to opt for or refrain from invasive PND procedures should be the topic for further research to optimize clinical care and informative decision making.
authors.affiliation: Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands. f.vansenne@amc.uva.nl
authors.forename: Fleur
authors.initials: F
authors.lastname: Vansenne
authors.forename: Corianne A J M
authors.initials: CA
authors.lastname: de Borgie
authors.forename: Johanna C
authors.initials: JC
authors.lastname: Korevaar
authors.forename: Maureen T M
authors.initials: MT
authors.lastname: Franssen
authors.forename: Eva
authors.initials: E
authors.lastname: Pajkrt
authors.forename: Kerstin B M
authors.initials: KB
authors.lastname: Hansson
authors.forename: Nico J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: Patrick M M
authors.initials: PM
authors.lastname: Bossuyt
authors.forename: Fulco
authors.initials: F
authors.lastname: van der Veen
authors.forename: Mariëtte
authors.initials: M
authors.lastname: Goddijn