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Revista Brasileira de Ginecologia e Obstetrícia. 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
Revista Brasileira de Ginecologia e Obstetrícia. 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
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(5):246-251
DOI 10.1590/S0100-72032011000500007
PURPOSE: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. CONCLUSIONS: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(5):246-251
DOI 10.1590/S0100-72032011000500007
PURPOSE: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. CONCLUSIONS: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 1998;20(2):83-89
DOI 10.1590/S0100-72031998000200005
Results on investigation and immune treatment for recurrent abortion are presented. Up to 60% of patients who are free of any clinical identifiable cause for abortion are believed to have alloimmune abnormalities. One of the suggested therapies for this condition is paternal lymphocyte immunization. We present the result of 116 pregnancies followed at the Departamento de Tocoginecologia UNICAMP. Patients were thoroughly evaluated for causes of recurrent abortion mentioned in the literature (genetics, hormones, uterine abnormalities and infections), for autoimmune (antiphospholipid syndrome, abnormal autoantibodies) and for alloimmune causes (crossmatch by microlymphocytotoxicity and mixed lymphocyte culture). Patients who presented negative crossmatch and lower than 50% inhibition in mixed lymphocyte culture were treated with two concentrated intradermal paternal lymphocyte immunizations. Women were stimulated to attempt pregnancy with a positive crossmatch and higher than 50% inhibition in mixed lymphocyte culture. Women whose immune status did not change with this treatment were immunized again with paternal lymphocytes associated or not to a third party donor. We report that 81% of the women treated with this protocol had good pregnancy outcome.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 1998;20(2):83-89
DOI 10.1590/S0100-72031998000200005
Results on investigation and immune treatment for recurrent abortion are presented. Up to 60% of patients who are free of any clinical identifiable cause for abortion are believed to have alloimmune abnormalities. One of the suggested therapies for this condition is paternal lymphocyte immunization. We present the result of 116 pregnancies followed at the Departamento de Tocoginecologia UNICAMP. Patients were thoroughly evaluated for causes of recurrent abortion mentioned in the literature (genetics, hormones, uterine abnormalities and infections), for autoimmune (antiphospholipid syndrome, abnormal autoantibodies) and for alloimmune causes (crossmatch by microlymphocytotoxicity and mixed lymphocyte culture). Patients who presented negative crossmatch and lower than 50% inhibition in mixed lymphocyte culture were treated with two concentrated intradermal paternal lymphocyte immunizations. Women were stimulated to attempt pregnancy with a positive crossmatch and higher than 50% inhibition in mixed lymphocyte culture. Women whose immune status did not change with this treatment were immunized again with paternal lymphocytes associated or not to a third party donor. We report that 81% of the women treated with this protocol had good pregnancy outcome.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2000;22(4):217-223
DOI 10.1590/S0100-72032000000400005
Purpose: to identify recurrent spontaneous abortion- associated factors. Subjects: one hundred seventy-five outpatients were investigated from March 1993 to March 1997 at the "Ambulatório de Aborto Recorrente CAISM/UNICAMP". All of them had had three or more consecutive spontaneous abortions and/or two abortions and were 35 years or more old. Methods: the investigation protocol included: couple's karyotype; hysterosalpingography, serial plasma progesterone levels and/or endometrial biopsy; toxoplasmosis, listeriosis, brucelosis, lues and cytomegalovirus serum tests; Chlamydia trachomatis and Mycoplasma hominis cultures of cervical discharge; TSH and thyroid hormone levels; fasting glucose; autoantibody panel, anti-HLA antibody search by microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Husband's evaluation included: physical evaluation, lues, Chagas' disease, B and C hepatitis and AIDS serum tests, microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Results: alloimmune etiology was the most frequently found factor (86.3% of studied patients), represented by negative crossmatch and one-way mixed lymphocyte culture with inhibitor factor below 50%. The second most frequently found factor was cervical incompetence (22.8%), followed by hormonal factor (21.2%), mainly represented by luteal insufficiency. Some patients were found to have more than one etiologic factor. Conclusion: the investigation of recurrent spontaneous abortion-associated factors must include alloimmune etiology. Most cases will remain unexplained without this investigation.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2000;22(4):217-223
DOI 10.1590/S0100-72032000000400005
Purpose: to identify recurrent spontaneous abortion- associated factors. Subjects: one hundred seventy-five outpatients were investigated from March 1993 to March 1997 at the "Ambulatório de Aborto Recorrente CAISM/UNICAMP". All of them had had three or more consecutive spontaneous abortions and/or two abortions and were 35 years or more old. Methods: the investigation protocol included: couple's karyotype; hysterosalpingography, serial plasma progesterone levels and/or endometrial biopsy; toxoplasmosis, listeriosis, brucelosis, lues and cytomegalovirus serum tests; Chlamydia trachomatis and Mycoplasma hominis cultures of cervical discharge; TSH and thyroid hormone levels; fasting glucose; autoantibody panel, anti-HLA antibody search by microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Husband's evaluation included: physical evaluation, lues, Chagas' disease, B and C hepatitis and AIDS serum tests, microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Results: alloimmune etiology was the most frequently found factor (86.3% of studied patients), represented by negative crossmatch and one-way mixed lymphocyte culture with inhibitor factor below 50%. The second most frequently found factor was cervical incompetence (22.8%), followed by hormonal factor (21.2%), mainly represented by luteal insufficiency. Some patients were found to have more than one etiologic factor. Conclusion: the investigation of recurrent spontaneous abortion-associated factors must include alloimmune etiology. Most cases will remain unexplained without this investigation.