title: Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.
abstract: OBJECTIVE
  Do clinical characteristics of recurrent miscarriage couples with a chromosomal abnormality and who opt for PGD differ from couples that decline PGD after extensive genetic counselling?
  
  
  CONCLUSIONS
  No differences in clinical characteristics are identified between recurrent miscarriage couples carrying a structural chromosomal abnormality who opt for PGD compared with those that decline PGD after extensive genetic counselling.
  
  
  BACKGROUND
  Couples who have experienced two or more miscarriages (recurrent miscarriage) are at increased recurrence risk if one of the partners carries a structural chromosomal abnormality. PGD can be offered to avoid (another) miscarriage or pregnancy termination when (invasive) prenatal diagnosis shows an abnormal result. To date, no reports are available that describe reproductive decision-making after genetic counselling on PGD in these specific couples.
  
  
  METHODS
  Retrospective cohort study of 294 couples carrying a structural chromosomal abnormality seeking genetic counselling on PGD between 1996 and 2012.
  
  
  METHODS
  Participants were recurrent miscarriage couples carrying a structural chromosomal abnormality. They had been referred for genetic counselling to the only national licensed PGD centre. Clinical characteristics analysed included couple associated characteristics, characteristics concerning reproductive history and external characteristics such as type of physician that referred the couple for genetic counselling and the clinical geneticist performing the counselling on PGD.
  
  
  RESULTS
  Of 294 couples referred for counselling on PGD, 26 were not accepted because they did not meet the criteria for IVF-PGD. The remaining cohort of 268 couples consisted of two-thirds female and one-third male carriers. Main PGD indications were reciprocal translocations (83.9%) and Robertsonian translocations (16.7%). Following genetic counselling, 76.9% of included couples chose PGD as their reproductive option, the others declined PGD. Reproductive choice is not influenced by sex of the translocation carrier (P = 0.499), type of chromosomal abnormality (P = 0.346), number of previous miscarriages (P = 0.882), history of termination of pregnancy (TOP) because of an unbalanced fetal karyotype (P = 0.800), referring physician (P = 0.208) or geneticist who performed the counselling (P = 0.410).
  
  
  CONCLUSIONS
  This study only included recurrent miscarriage couples carrying a structural chromosomal abnormality, who were actually referred to a PGD clinic for genetic counselling. We lack information on couples who were not referred for PGD. Some of these patients may not have been informed on PGD at all, while others were not referred for counselling because they did not opt for PGD to start with.
  
  
  CONCLUSIONS
  This study shows that reproductive choices in couples with recurrent miscarriage on the basis of a structural chromosomal abnormality are not influenced by characteristics of the couple itself, nor by their obstetric history or external characteristics. These findings suggest that a couples' intrinsic attitude towards PGD treatment is a major factor influencing their reproductive choice. Future research will focus on these personal motives that seem to push reproductive decision-making following genetic counselling in a given direction.
authors.affiliation: Department of Obstetrics & Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands guusje.de.krom@mumc.nl.
authors.forename: G
authors.initials: G
authors.lastname: De Krom
authors.affiliation: School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Y H J M
authors.initials: YH
authors.lastname: Arens
authors.affiliation: Department of Obstetrics & Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Coonen
authors.affiliation: Department of Medical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: C M A
authors.initials: CM
authors.lastname: Van Ravenswaaij-Arts
authors.affiliation: Department of Reproductive Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Meijer-Hoogeveen
authors.affiliation: Department of Obstetrics & Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands.
authors.forename: J L H
authors.initials: JL
authors.lastname: Evers
authors.affiliation: Department of Obstetrics & Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands.
authors.forename: R J T
authors.initials: RJ
authors.lastname: Van Golde
authors.affiliation: School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: C E M
authors.initials: CE
authors.lastname: De Die-Smulders
mesh_terms: D000026:Abortion, Habitual / Q000209:etiology* / Q000503:physiopathology / Q000517:prevention & control; D000046:Academic Medical Centers; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D015331:Cohort Studies; D005191:Family Characteristics; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008297:Male; D009426:Netherlands; D010044:Outpatient Clinics, Hospital; D010342:Patient Acceptance of Health Care; D010353:Patient Education as Topic; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012017:Referral and Consultation; D043762:Reproductive Behavior; D017584:Reproductive History; D012189:Retrospective Studies; D014178:Translocation, Genetic
keywords: PGD; genetic counselling; recurrent miscarriage; reproductive decision-making; structural chromosomal abnormalities