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Multicenter Study
. 2005 Jul 16;331(7509):137-41.
doi: 10.1136/bmj.38498.669595.8F. Epub 2005 Jun 28.

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

Maureen T M Franssen  1 , Johanna C Korevaar, Nico J Leschot, Patrick M M Bossuyt, Alida C Knegt, Klasien B J Gerssen-Schoorl, Cokkie H Wouters, Kerstin B M Hansson, Ron Hochstenbach, Kamlesh Madan, Fulco van der Veen, Mariette Goddijn
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Multicenter Study

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

Maureen T M Franssen et al. BMJ. .

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.

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Figures

Fig 1
Fig 1
Flowchart of trial population and inclusion
Fig 2
Fig 2
Splines analysis: probability of carrier status in different categories of maternal age at second miscarriage, with 95% confidence intervals. Probability of carrier status is based on selected population of included couples (279 carrier couples; 428 non-carrier couples); numbers of carrier couples and non-carrier couples need to be adjusted to determine probability of carrier status in total screening population
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