Thrombophilia Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Rev Bras Ginecol Obstet. 2017;39(12):659-662
The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial.
To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population.
This case-control study included 130 infertile women consulting at a private clinic betweenMarch 2003 andMarch 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013.
The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility.
The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant.
These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when themutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.
Summary
Rev Bras Ginecol Obstet. 2017;39(12):659-662
The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial.
To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population.
This case-control study included 130 infertile women consulting at a private clinic betweenMarch 2003 andMarch 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013.
The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility.
The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant.
These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when themutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.
Summary
Rev Bras Ginecol Obstet. 2015;37(12):593-597
DOI 10.1590/S0100-720320150005455
Pregnancy and puerperium are periods of blood hypercoagulability and, therefore, of risk for thromboembolic events. Renal vein thrombosis is a serious and infrequent condition of difficult diagnosis. This study reported a case of renal vein thrombosis in the puerperium, and described the clinical case, risk factors, diagnostic methods, and treatment instituted.
Summary
Rev Bras Ginecol Obstet. 2015;37(12):593-597
DOI 10.1590/S0100-720320150005455
Pregnancy and puerperium are periods of blood hypercoagulability and, therefore, of risk for thromboembolic events. Renal vein thrombosis is a serious and infrequent condition of difficult diagnosis. This study reported a case of renal vein thrombosis in the puerperium, and described the clinical case, risk factors, diagnostic methods, and treatment instituted.
Summary
Rev Bras Ginecol Obstet. 2014;36(2):50-55
DOI 10.1590/S0100-72032014000200002
To evaluate pregnancy outcome and thrombophilia frequency in women with recurrent
fetal death.
Evaluation of obstetric outcomes in a retrospective cohort of pregnant women with
recurrent stillbirth after the 20th week, from 2001 to 2013.
Antithrombin activity, protein C and S activity, factor V Leiden, prothrombin gene
mutation and antiphospholipid syndrome were analyzed.
We included 20 patients who had recurrent fetal death. Thrombophilia were found
in 11 of them, 7 diagnosed with antiphospholipid syndrome, 3 with protein S
deficiency and 1 with prothrombin gene mutation. All of them were treated with
subcutaneous heparin (unfractionated heparin or enoxaparina) and 14 of them with
acetylsalicylic acid (AAS) during pregnancy. Obstetric complications occurred in
15 patients and included: intrauterine fetal growth restriction (25%), placenta
previa (15%), reduced amniotic fluid index (25%), severe preeclampsia (10%), fetal
distress (5%), and stillbirth (5%). The mean gestational age at delivery was
35.8±3.7 weeks and newborn weight averaged 2,417.3±666.2 g.
Thrombophilia screening should be performed in all pregnant women with recurrent
fetal death after the 20th week as a way to identify possible causal
factors suitable for treatment.
Summary
Rev Bras Ginecol Obstet. 2014;36(2):50-55
DOI 10.1590/S0100-72032014000200002
To evaluate pregnancy outcome and thrombophilia frequency in women with recurrent
fetal death.
Evaluation of obstetric outcomes in a retrospective cohort of pregnant women with
recurrent stillbirth after the 20th week, from 2001 to 2013.
Antithrombin activity, protein C and S activity, factor V Leiden, prothrombin gene
mutation and antiphospholipid syndrome were analyzed.
We included 20 patients who had recurrent fetal death. Thrombophilia were found
in 11 of them, 7 diagnosed with antiphospholipid syndrome, 3 with protein S
deficiency and 1 with prothrombin gene mutation. All of them were treated with
subcutaneous heparin (unfractionated heparin or enoxaparina) and 14 of them with
acetylsalicylic acid (AAS) during pregnancy. Obstetric complications occurred in
15 patients and included: intrauterine fetal growth restriction (25%), placenta
previa (15%), reduced amniotic fluid index (25%), severe preeclampsia (10%), fetal
distress (5%), and stillbirth (5%). The mean gestational age at delivery was
35.8±3.7 weeks and newborn weight averaged 2,417.3±666.2 g.
Thrombophilia screening should be performed in all pregnant women with recurrent
fetal death after the 20th week as a way to identify possible causal
factors suitable for treatment.
Summary
Rev Bras Ginecol Obstet. 2013;35(10):436-441
DOI 10.1590/S0100-72032013001000002
PURPOSE: To evaluate the association between central nervous system (CNS) malformations and the C677T-MTHFR mutation in fetal blood. METHODS: A case-control study was conducted to compare the MTHFR-C677T mutation detected in 78 fetuses with CNS malformations and with 100 morphologically normal fetuses. Genomic DNA was extracted and purified from fetal blood using the Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA) according to manufacturer's protocol. The polymerase chain reaction (PCR) was used to assay the thermolabile MTHFR-C677T mutation. The γ² and the Fisher's exact tests were used for descriptive analysis and the Wilcoxon test was used for univariate analysis. Logistic regression analysis was performed to identify which variables were predictors of CNS malformation. RESULTS: Cases and controls were similar regarding maternal characteristics such as age and number of deliveries and abortions. The MTHFR-C677T mutation was detected in 20 cases (25.6%) and in 6 controls in its heterozygous form (OR 10.3; 95%CI 3.3-32.2) and in 6 cases (7.7%) and in 1 control in its homozygous form (OR 12.3; 95%CI 1.3-111.1), and the differences were statistically significant. CONCLUSION: The presence of the MTHFR-C677T mutation in fetal blood was consistent with a higher risk of CNS malformations, both in the heterozygous and homozygous forms.
Summary
Rev Bras Ginecol Obstet. 2013;35(10):436-441
DOI 10.1590/S0100-72032013001000002
PURPOSE: To evaluate the association between central nervous system (CNS) malformations and the C677T-MTHFR mutation in fetal blood. METHODS: A case-control study was conducted to compare the MTHFR-C677T mutation detected in 78 fetuses with CNS malformations and with 100 morphologically normal fetuses. Genomic DNA was extracted and purified from fetal blood using the Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA) according to manufacturer's protocol. The polymerase chain reaction (PCR) was used to assay the thermolabile MTHFR-C677T mutation. The γ² and the Fisher's exact tests were used for descriptive analysis and the Wilcoxon test was used for univariate analysis. Logistic regression analysis was performed to identify which variables were predictors of CNS malformation. RESULTS: Cases and controls were similar regarding maternal characteristics such as age and number of deliveries and abortions. The MTHFR-C677T mutation was detected in 20 cases (25.6%) and in 6 controls in its heterozygous form (OR 10.3; 95%CI 3.3-32.2) and in 6 cases (7.7%) and in 1 control in its homozygous form (OR 12.3; 95%CI 1.3-111.1), and the differences were statistically significant. CONCLUSION: The presence of the MTHFR-C677T mutation in fetal blood was consistent with a higher risk of CNS malformations, both in the heterozygous and homozygous forms.
Summary
Rev Bras Ginecol Obstet. 2012;34(10):459-465
DOI 10.1590/S0100-72032012001000005
PURPOSES: To assess whether an enoxaparin-based intervention using a score system was effective in improving perinatal outcome in women with thrombophilia. METHODS: Study Design: Prospective, not randomized, uncontrolled, performed at a Clinic of High-Risk Pregnancy from November 2009 to November 2011. We included women with a diagnosis and therapeutic intervention for thrombophilia acquired and/or inherited in the current pregnancy. The obstetric and perinatal outcomes of pregnant women before the intervention were compared with outcomes after the intervention, and statistically analyzed using the χ2 test with Yates correction, considered significant when p<0.05. The initial dose of low-molecular-weight Heparin (LMWH) was guided by a scoring system based on the clinical and gestational history of the patients and screening tests for acquired and/or inherited thrombophilia. RESULTS: We included 84 pregnant women with 175 pregnancies before diagnosis, 20.0% of which resulted in fetal ou perinatal death, 40.0% resulted in abortion, 17.7% developed preeclampsia/eclampsia, 10.3% resulted in full-term births, and 29.7% in premature births. In the 84 pregnancies after intervention, 6.0% resulted in fetal ou perinatal death, 1.2% in abortion, 4.8% developed preeclampsia/eclampsia, 22.6% resulted in premature birth, and 70.2% in full-term birth. A significant reduction in the rate of stillbirths/perinatal death (p<0.05) and abortion (p<0.0001) and a significant increase (p<0.05) in the number of live births were observed after intervention. CONCLUSION: Enoxaparin-based intervention using a score system in pregnant women with thrombophilia is effective in improving perinatal outcome.
Summary
Rev Bras Ginecol Obstet. 2012;34(10):459-465
DOI 10.1590/S0100-72032012001000005
PURPOSES: To assess whether an enoxaparin-based intervention using a score system was effective in improving perinatal outcome in women with thrombophilia. METHODS: Study Design: Prospective, not randomized, uncontrolled, performed at a Clinic of High-Risk Pregnancy from November 2009 to November 2011. We included women with a diagnosis and therapeutic intervention for thrombophilia acquired and/or inherited in the current pregnancy. The obstetric and perinatal outcomes of pregnant women before the intervention were compared with outcomes after the intervention, and statistically analyzed using the χ2 test with Yates correction, considered significant when p<0.05. The initial dose of low-molecular-weight Heparin (LMWH) was guided by a scoring system based on the clinical and gestational history of the patients and screening tests for acquired and/or inherited thrombophilia. RESULTS: We included 84 pregnant women with 175 pregnancies before diagnosis, 20.0% of which resulted in fetal ou perinatal death, 40.0% resulted in abortion, 17.7% developed preeclampsia/eclampsia, 10.3% resulted in full-term births, and 29.7% in premature births. In the 84 pregnancies after intervention, 6.0% resulted in fetal ou perinatal death, 1.2% in abortion, 4.8% developed preeclampsia/eclampsia, 22.6% resulted in premature birth, and 70.2% in full-term birth. A significant reduction in the rate of stillbirths/perinatal death (p<0.05) and abortion (p<0.0001) and a significant increase (p<0.05) in the number of live births were observed after intervention. CONCLUSION: Enoxaparin-based intervention using a score system in pregnant women with thrombophilia is effective in improving perinatal outcome.
Summary
Rev Bras Ginecol Obstet. 2012;34(1):40-46
DOI 10.1590/S0100-72032012000100008
PURPOSE: To determine the frequency and the association of serum markers for inherited and acquired thrombophilias in pregnant women with a history of severe pre-eclampsia in previous pregnancies. METHODS: Case-control study consisting of 81 pregnant women with a history of severe pre-eclampsia in previous pregnancies (study group) and 32 women with no history of severe pre-eclampsia in previous pregnancies (control group). The presence of inherited thrombophilia and antiphospholipid antibodies was screened in both groups. We used the chi-square test with Yates correction to assess associations and calculate the relative risks. RESULTS: The presence of thrombophilia was detected in 60.0% of patients with a previous history of pre-eclampsia and in 6.0% of the control patients. A significant association was found between pre-eclampsia in a previous pregnancy and the presence of markers for hereditary thrombophilia/antiphospholipid antibodies (p<0.05). The relative risk to develop pre-eclampsia was found to be 1.57 (1.34
Summary
Rev Bras Ginecol Obstet. 2012;34(1):40-46
DOI 10.1590/S0100-72032012000100008
PURPOSE: To determine the frequency and the association of serum markers for inherited and acquired thrombophilias in pregnant women with a history of severe pre-eclampsia in previous pregnancies. METHODS: Case-control study consisting of 81 pregnant women with a history of severe pre-eclampsia in previous pregnancies (study group) and 32 women with no history of severe pre-eclampsia in previous pregnancies (control group). The presence of inherited thrombophilia and antiphospholipid antibodies was screened in both groups. We used the chi-square test with Yates correction to assess associations and calculate the relative risks. RESULTS: The presence of thrombophilia was detected in 60.0% of patients with a previous history of pre-eclampsia and in 6.0% of the control patients. A significant association was found between pre-eclampsia in a previous pregnancy and the presence of markers for hereditary thrombophilia/antiphospholipid antibodies (p<0.05). The relative risk to develop pre-eclampsia was found to be 1.57 (1.34
Summary
Rev Bras Ginecol Obstet. 2007;29(11):561-567
DOI 10.1590/S0100-72032007001100003
PURPOSE: to verify the association of abortion, recurrent fetal loss, miscarriage and severe pre-eclampsia with the presence of hereditary thrombophilias and antiphospholipid antibodies in pregnant women. METHODS: observational and transverse study of 48 pregnant women with past medical record of miscarriage, repeated abortion and fetal loss story (AB Group) and severe pre-eclampsia (PE Group), attended to in the High Risk Pregnancy Ambulatory of the Faculdade de Medicina (Famed) from the Universidade Federal de Mato Grosso do Sul (UFMS) from November 2006 to July 2007. The pregnant women of both groups were screened for the presence of antiphospholipid antibodies (anticardiolipin IgG and IgM, lupic anticoagulant and anti-beta2-glycoprotein I) and hereditary thrombophilias (protein C and S deficiency, antithrombin deficiency, hyperhomocysteinemia and factor V Leiden mutation). The laboratorial screening was performed during the pregnancy. The parametric data (maternal age and parity) were analyzed with Student’s tau test. The non-parametric data (presence/absence of hereditary thrombophilias and antiphospholipid antibodies, presence/absence of pre-eclampsia, fetal loss, miscarriage and repeated abortion) were analyzed with Fisher’s exact test in contingency tables. It was considered significant the association with p value <0.05. RESULTS: out of the 48 pregnant women, 31 (65%) were included in AB Group and 17 (35%) in PE Group. There was no significant difference between maternal age and parity within the groups. There was significant statistical association between recurrent fetal loss, recurrent abortions and previous miscarriages and maternal hereditary thrombophilias (p<0.05). There was no statistical association between the AB Group and the presence of antiphospholipid antibodies. Neither there were associations of the PE Group with maternal hereditary thrombophilias and the presence of antiphospholipid antibodies. CONCLUSIONS: the data obtained suggest routine laboratorial investigation for hereditary thrombophilias in pregnant women with previous obstetrical story of recurrent fetal loss, repeated abortion and miscarriage.
Summary
Rev Bras Ginecol Obstet. 2007;29(11):561-567
DOI 10.1590/S0100-72032007001100003
PURPOSE: to verify the association of abortion, recurrent fetal loss, miscarriage and severe pre-eclampsia with the presence of hereditary thrombophilias and antiphospholipid antibodies in pregnant women. METHODS: observational and transverse study of 48 pregnant women with past medical record of miscarriage, repeated abortion and fetal loss story (AB Group) and severe pre-eclampsia (PE Group), attended to in the High Risk Pregnancy Ambulatory of the Faculdade de Medicina (Famed) from the Universidade Federal de Mato Grosso do Sul (UFMS) from November 2006 to July 2007. The pregnant women of both groups were screened for the presence of antiphospholipid antibodies (anticardiolipin IgG and IgM, lupic anticoagulant and anti-beta2-glycoprotein I) and hereditary thrombophilias (protein C and S deficiency, antithrombin deficiency, hyperhomocysteinemia and factor V Leiden mutation). The laboratorial screening was performed during the pregnancy. The parametric data (maternal age and parity) were analyzed with Student’s tau test. The non-parametric data (presence/absence of hereditary thrombophilias and antiphospholipid antibodies, presence/absence of pre-eclampsia, fetal loss, miscarriage and repeated abortion) were analyzed with Fisher’s exact test in contingency tables. It was considered significant the association with p value <0.05. RESULTS: out of the 48 pregnant women, 31 (65%) were included in AB Group and 17 (35%) in PE Group. There was no significant difference between maternal age and parity within the groups. There was significant statistical association between recurrent fetal loss, recurrent abortions and previous miscarriages and maternal hereditary thrombophilias (p<0.05). There was no statistical association between the AB Group and the presence of antiphospholipid antibodies. Neither there were associations of the PE Group with maternal hereditary thrombophilias and the presence of antiphospholipid antibodies. CONCLUSIONS: the data obtained suggest routine laboratorial investigation for hereditary thrombophilias in pregnant women with previous obstetrical story of recurrent fetal loss, repeated abortion and miscarriage.
Summary
Rev Bras Ginecol Obstet. 2007;29(5):235-240
DOI 10.1590/S0100-72032007000500003
PURPOSE: to establish the prevalence of thrombophilic factors in infertile women. METHODS: a cross-sectional study was performed, in which infertile women, seen in a private clinic with investigation for thrombophilia were included, according to the protocol of the clinic, between March 2003 and March 2005, after the approval of the Research Ethics Committee of the Universidade Estadual de Campinas (UNICAMP). One hundred and forty-four infertile women without any liver disease were evaluated. Infertility is defined as one year of unprotected sexual intercourse without conception. The acquired and/or inherited thrombophilic factors investigated were: anticardiolipin antibody (aCL), lupus anticoagulant (LA), protein C deficiency (PCD), protein S deficiency (PSD), antithrombin III deficiency (ATD), presence of the factor V Leiden, mutation G20 210A in the prothrombin gene, and C677T mutation of methylene tetrahydrofolate reductase (MTHFR). RESULTS: the prevalence values obtained for aCL and LA were 2%. The prevalence of the hereditary thrombophilic factors were: PCD=4%, PSD=6%, ATD=5%, factor V Leiden=3%, prothrombin mutation=3%, MTHFR mutation=57%. Conclusions: of the 144 patients selected, 105 women (72.9%) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.
Summary
Rev Bras Ginecol Obstet. 2007;29(5):235-240
DOI 10.1590/S0100-72032007000500003
PURPOSE: to establish the prevalence of thrombophilic factors in infertile women. METHODS: a cross-sectional study was performed, in which infertile women, seen in a private clinic with investigation for thrombophilia were included, according to the protocol of the clinic, between March 2003 and March 2005, after the approval of the Research Ethics Committee of the Universidade Estadual de Campinas (UNICAMP). One hundred and forty-four infertile women without any liver disease were evaluated. Infertility is defined as one year of unprotected sexual intercourse without conception. The acquired and/or inherited thrombophilic factors investigated were: anticardiolipin antibody (aCL), lupus anticoagulant (LA), protein C deficiency (PCD), protein S deficiency (PSD), antithrombin III deficiency (ATD), presence of the factor V Leiden, mutation G20 210A in the prothrombin gene, and C677T mutation of methylene tetrahydrofolate reductase (MTHFR). RESULTS: the prevalence values obtained for aCL and LA were 2%. The prevalence of the hereditary thrombophilic factors were: PCD=4%, PSD=6%, ATD=5%, factor V Leiden=3%, prothrombin mutation=3%, MTHFR mutation=57%. Conclusions: of the 144 patients selected, 105 women (72.9%) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.