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Selective chromosome analysis in couples with two or more miscarriages: case-control study

BMJ 2005; 331 doi: https://doi.org/10.1136/bmj.38498.669595.8F (Published 14 July 2005) Cite this as: BMJ 2005;331:137
  1. Maureen T M Franssen, researcher (maureen.franssen{at}planet.nl)1,
  2. Johanna C Korevaar, epidemiologist3,
  3. Nico J Leschot, professor2,
  4. Patrick M M Bossuyt, professor3,
  5. Alida C Knegt, clinical cytogeneticist2,
  6. Klasien B J Gerssen-Schoorl4, clinical cytogeneticist,
  7. Cokkie H Wouters, clinical cytogeneticist5,
  8. Kerstin B M Hansson, clinical cytogeneticist6,
  9. Ron Hochstenbach, clinical cytogeneticist7,
  10. Kamlesh Madan, clinical cytogeneticist8,
  11. Fulco van der Veen, professor1,
  12. Mariette Goddijn, gynaecologist1
  1. 1 Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, Netherlands
  2. 2 Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam
  3. 3 Department of Clinical Epidemiology and Biostatistics, Academic Medical Centre, University of Amsterdam
  4. 4 Department of Clinical Genetics, University Hospital Groningen, Groningen
  5. 5 Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam
  6. 6 Department of Clinical Genetics, Leiden University Medical Centre, Leiden
  7. 7 Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht
  8. 8 Department of Clinical Genetics, VU Medical Centre, University of Amsterdam
  1. Correspondence to: M T M Franssen
  • Accepted 23 May 2005

Abstract

Objective To identify additional factors, such as maternal age or factors related to previous reproductive outcome or family history, and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages.

Design Nested case-control study.

Setting Six centres for clinical genetics in the Netherlands.

Participants Couples referred for chromosome analysis after two or more miscarriages in 1992-2000; 279 carrier couples were marked as cases, and 428 non-carrier couples served as controls.

Main outcome measures Independent factors influencing the probability of carrier status and the corresponding probability of carrier status.

Results Four factors influencing the probability of carrier status could be identified: maternal age at second miscarriage, a history of three or more miscarriages, a history of two or more miscarriages in a brother or sister of either partner, and a history of two or more miscarriages in the parents of either partner. The calculated probability of carrier status in couples referred for chromosome analysis after two or more miscarriages varied between 0.5% and 10.2%.

Conclusions The probability of carrier status in couples with two or more miscarriages is modified by additional factors. Selective chromosome analysis would result in a more appropriate referral policy, could decrease the annual number of chromosome analyses, and could therefore lower the costs.

Footnotes

  • Contributors MG had the idea for the study and developed the study design with FvdV, NJL, MTMF, JCK, PMMB, and ACK. MTMF, MG, KBJG-S, CHW, KBMH, RH, and KM collected the data. ACK selected the structural chromosome abnormalities. MTMF, JCK, and PMMB did the statistical analysis. MTMF wrote the initial draft, and all authors took part in the further preparation of the paper. MG is the guarantor.

  • Funding This work was supported by ZonMW, the Netherlands Organisation for Health Research and Development (945-02-35). The sponsor did not participate in the study design, data collection, analysis, or interpretation, or in the preparation or submission of this report.

  • Competing interests None declared.

  • Ethical approval Institutional review board approval was requested and obtained.

  • Accepted 23 May 2005
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