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Objective: The human aryl hydrocarbon receptor nuclear translocator gene (ARNT) is crucial for embryonic development. Knockout of ARNT is embryonic lethal. We thus hypothesized that some cases of recurrent miscarriage (RM) may be due to a polymorphism in the ARNT gene., Methods: Polymerase chain reaction was used to compare the gene frequencies of a polymorphism in codon 511 of the ARNT gene in 170 women with idiopathic RM and 105 controls., Results: Using the Hardy-Weinberg equilibrium calculation, the predicted ARNT genotype frequencies for the N511/N511, N511/D511, and D511/D511 genotypes were 0, 2, and 167 respectively. The observed frequencies were 0, 2, and 168 (NS). The N/511/D511 genotype was detected in 1.2% of cases and 2.8% of controls, and the D511/D511genotype was detected in 98.8% of cases and 97.2% of controls (NS)., Conclusions: In our cohort of patients, the polymorphism in codon 511 of the ARNT gene is not associated with RM.

Problem: To determine if there is an association between two commonly inherited thrombophilias, the factor V Leiden and the G20210A prothrombin mutations, and fetal death., Method of Study: We used a case-control study design to compare the frequencies of these mutations in women with fetal death and controls. Fetal death was the intrauterine death of the conceptus > or =10 weeks gestation. Controls had one live birth, no miscarriages, and no fetal death. Results were compared using chi square analysis., Results: One hundred and seventy-five cases and controls were identified. There were 4.6% of cases and 3.8% of controls heterozygous for the factor V Leiden mutation (NS), and 1.3% of cases and 1.7% of controls heterozygous for the prothrombin mutation (NS)., Conclusion: In our population, neither the factor V Leiden nor the G20210A prothrombin mutations are associated with fetal death. Further evidence is required before routine screening for these mutations can be recommended., (Copyright Blackwell Munksgaard, 2005)