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

• Published in: BMJ Vol. 331; no. 7509; pp. 137 - 139
• Main Authors: Franssen, Maureen T M, Korevaar, Johanna C, Leschot, Nico J, Bossuyt, Patrick M M, Knegt, Alida C, Gerssen-Schoorl, Klasien B J, Wouters, Cokkie H, Hansson, Kerstin B M, Hochstenbach, Ron, Madan, Kamlesh, van der Veen, Fulco, Goddijn, Mariette
• Format: Journal Article
• Language: English
• Published: London British Medical Journal Publishing Group 16.07.2005; British Medical Association; BMJ Publishing Group LTD; BMJ Publishing Group; BMJ Publishing Group Ltd
• Edition: International edition
• Subjects: Abortion, Spontaneous - genetics; Adult; Age differences; Biological and medical sciences; Case control studies; Chromosome Aberrations; Chromosomes; Diseases of mother, fetus and pregnancy; Family history; Female; General aspects; Genetic Carrier Screening; Genetics; Gynecology; Gynecology. Andrology. Obstetrics; Heterozygote; Humans; Logistic regression; Male; Maternal Age; Medical genetics; Medical sciences; Middle Aged; Miscarriage; Modeling; Pregnancy; Pregnancy. Fetus. Placenta; Regression Analysis; Risk factors; Statistical analysis; Netherlands; Medicine; Pregnancy disorders; Couple; Chromosome; Genetics; Case control study; Abortion
• ISSN: 0959-8138; 0959-8146; 1468-5833; 1756-1833
• DOI: 10.1136/bmj.38498.669595.8F

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.