1)不育症における遺伝学的探索(シンポジウム1「流産の原因と対策」,第63回日本産科婦人科学会・学術講演会)

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  • Genetic Factors as a Cause of Recurrent Miscarriage

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We analyzed the pregnancy outcome using database including 2,900 pregnancies, background of patients and parameters. Patients with a history of 2~20 consecutive miscarriages or fetal losses visited Nagoya City University hospital wishing for examination of recurrent miscarriage from 1986 to 2010. We found new findings as follows. 1. The prevalence of recurrent pregnancy loss was 4.2%. 38% of women with pregnancy history experienced at least one miscarriage. 2. The translocation in either partner was cause of recurrent miscarriage. However, 68% of couples with translocation could give live birth cumulatively. 3. Major congenital uterine anomaly was associated with recurrent miscarriage with normal embryonic karyotype. 4. Abnormal embryonic karyotype was the most frequent cause of recurrent miscarriage. Abnormal embryonic karyotype was predictor of subsequent live birth. 5. Not polymorphism of factor XII gene but reduced FXII activity was risk factor of recurrent miscarriage. Thrombophilia was speculated to be associated with intrauterine fetal death by not it's deficiency but autoantibodies. 6. The prevalence of antiphospholipid syndrome was only 4%. APS should be distinguished from occasional antiphospholipid antibodies because patients with APS needed the prevention of thrombosis in the future. 7. The SYCP3 gene mutation was not associated with recurrent miacarriage. Further study is needed because another gene might have the possibility to be associated with miscarriage caused by abnormal embryonic karyotype. 8. Patients with a history of miscarriage caused by abnormal embryonic karyotype tended to repeat miscarriage caused by abnormal embryonic karyotype. 9. There were no established treatment methods for unexplained recurrent miscarriage. The age and the number of previous miscarriage were independent risk factors for recurrent miscarriage. Patients with unexplained causes could give live birth without treatment. 85.5% of pa tients without uterine anomalies nor translocations could give live birth cumulatively. 10. The prevalence of patients who experienced 10 or more miscarriage was 0.83%.

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