Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss
Background: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL. Aims: In this study, the prevalence of some...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-10-01
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| Series: | Journal of Human Reproductive Sciences |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jhrs.jhrs_137_23 |
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| author | Mehdi Kashifard Zahra Basirat Fatemeh Ramezani Faeze Ghofrani Masoumeh Golsorkhtabaramiri |
| author_facet | Mehdi Kashifard Zahra Basirat Fatemeh Ramezani Faeze Ghofrani Masoumeh Golsorkhtabaramiri |
| author_sort | Mehdi Kashifard |
| collection | DOAJ |
| description | Background:
Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL.
Aims:
In this study, the prevalence of some combined parental thrombophilia gene mutation defects was studied in couples with RPL.
Settings and Design:
The observational study was done in babol infertility research center (Iran) in 2022.
Materials and Methods:
Sixty-two infertile women with a history of RPL and their male partners (124 individuals) participated in this study. The frequencies of common defects associated with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, factor V Leiden, protein C, protein S and homocysteine were analysed in these couples.
Statistical analysis used:
The data were statistically analysed using the Mann–Whitney test.
Results:
Sixty-two couples (124 individuals) were analysed. 56.2% of couples with a history of RPL had MTHFR C677T and 23.1% had MTHFR A1298C. Forty percent of couples showed homocysteine deficiency and 12.5% protein C deficiency. Other genes tested were only observed in the mother or father but not both.
Conclusions:
Results obtained with RPL couples demonstrate the importance of further investigating combined parental thrombophilia gene mutation defects (not only maternal). |
| format | Article |
| id | doaj-art-32c5a3e742934a538e69fb67e4771e9a |
| institution | Kabale University |
| issn | 0974-1208 1998-4766 |
| language | English |
| publishDate | 2023-10-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj-art-32c5a3e742934a538e69fb67e4771e9a2025-02-10T09:23:42ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662023-10-0116435235710.4103/jhrs.jhrs_137_23Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy LossMehdi KashifardZahra BasiratFatemeh RamezaniFaeze GhofraniMasoumeh GolsorkhtabaramiriBackground: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL. Aims: In this study, the prevalence of some combined parental thrombophilia gene mutation defects was studied in couples with RPL. Settings and Design: The observational study was done in babol infertility research center (Iran) in 2022. Materials and Methods: Sixty-two infertile women with a history of RPL and their male partners (124 individuals) participated in this study. The frequencies of common defects associated with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, factor V Leiden, protein C, protein S and homocysteine were analysed in these couples. Statistical analysis used: The data were statistically analysed using the Mann–Whitney test. Results: Sixty-two couples (124 individuals) were analysed. 56.2% of couples with a history of RPL had MTHFR C677T and 23.1% had MTHFR A1298C. Forty percent of couples showed homocysteine deficiency and 12.5% protein C deficiency. Other genes tested were only observed in the mother or father but not both. Conclusions: Results obtained with RPL couples demonstrate the importance of further investigating combined parental thrombophilia gene mutation defects (not only maternal).https://journals.lww.com/10.4103/jhrs.jhrs_137_23factor v leidenhomocysteinepregnancyprotein cthrombophilia |
| spellingShingle | Mehdi Kashifard Zahra Basirat Fatemeh Ramezani Faeze Ghofrani Masoumeh Golsorkhtabaramiri Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss Journal of Human Reproductive Sciences factor v leiden homocysteine pregnancy protein c thrombophilia |
| title | Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss |
| title_full | Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss |
| title_fullStr | Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss |
| title_full_unstemmed | Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss |
| title_short | Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss |
| title_sort | combined parental thrombophilia gene mutation defects in couples with repeated pregnancy loss |
| topic | factor v leiden homocysteine pregnancy protein c thrombophilia |
| url | https://journals.lww.com/10.4103/jhrs.jhrs_137_23 |
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