SOME GENE VARIANTS RELATING TO THROMBOPHILIA IN RECURRENT PREGNANCY LOSS

Thị Ngọc Lan Hoàng1,2,, Sơn Tùng Trần1, Thị Thu Giang Phan 2, Thị Kim Phượng Đoàn 1,2, Thành Công Nguyễn2, Thành Công Nguyễn2, Thị Thanh Huyền Đoàn 2, Danh Cường Trần1,2, Danh Cường Trần1,2
1 Hanoi medical university
2 National hospital of obstetrics and gynecology

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Abstract

Objectives: 1) Determining the alleles frequency that increase the risk of thrombosis in women with recurrent pregnancy loss (RPL). 2). The association between thrombophilic gene variants and the number of pregnancy loss. Subjects and methods: Retrospective study of 306 patients with unexplained RPL. These patients were tested 06 common gene variants by using The Devyser Thrombophilia kit (CE-IVD). Results: The percentage of patients with at least one variant was 93.46% (286/306). 79.41% patient had PAI-1 4G/5G that was the most common variant. MTHFR A1298C and MTHFR C677T were 47.72% and 31.04%, respectively. FVL, FVR2 are rare and FIIP mutation was undetectable. Among the individuals with variants, the patient with 2 variants was the highest (52.8% (151/286)), followed by the patient with one, three and four variants (37.1% (106/286), 9.4% (27/286) and 0.7% (2/286), respectively). The frequency of mutations was no statistically significant difference between two pregnancy loss group and more than two RPL group. The combination of two common variants PAI-1 4G/MTHFR A1298C and PAI-1 4G/MTHFR C677T did not increase the number of RPL compared with cases carrying only one gene variant. Conclusion. The rate of 6 gene mutations that increase the risk of thrombosis in women with a history of RPL is 93.46%. The ratio of common abnormal genotypes was not statistically significant in the group of patients with RPL 2 times and 3 times or more. The combination of 2 common gene mutations PAI-1 4G/MTHFR A1298C and PAI-1 4G/MTHFR C677T was not associated with the degree of pregnancy loss compared with single gene abnormality.

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References

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