Hydrocephalus Archives - Revista Brasileira de Ginecologia e Obstetrícia
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. 1998;20(7):381-387
DOI 10.1590/S0100-72031998000700003
Objective: to evaluate the diagnosis, characteristics of pregnancy, maternal complications and perinatal outcome in cases of congenital hydrocephalus, and to associate them with pregnancy and delivery variables. Methods: 116 pregnancies with this diagnosis were evaluated before or after delivery, 112 of them occurring at the Maternity ward of CAISM/UNICAMP during the period between 1986 and 1995. For perinatal variables, complete data of 82 newborns were used. For data analysis, distributions and means were calculated and c² and Fisher exact tests were applied. Results: generally the diagnosis was made before delivery, confirmed by ultrasound and the delivery was through a cesarean section in cases. Cephalocentesis was performed in 11 cases and complications were more frequent in vaginal delivery than cesarean section. Low Apgar scores were more frequent among newborn babies delivered vaginally. Congenital hydrocephalus was also associated with important neonatal and perinatal morbidity and mortality, with other malformations, and a very low number of children without sequelae. Conclusions: the evaluation of these factors may be of great value for the obstetrician who is following pregnant women with this fetal malformation. This could better support the decisions that, although medical and ethical, should take into account the risk-benefit ratio of measures to be taken.
Summary
Rev Bras Ginecol Obstet. 1998;20(7):381-387
DOI 10.1590/S0100-72031998000700003
Objective: to evaluate the diagnosis, characteristics of pregnancy, maternal complications and perinatal outcome in cases of congenital hydrocephalus, and to associate them with pregnancy and delivery variables. Methods: 116 pregnancies with this diagnosis were evaluated before or after delivery, 112 of them occurring at the Maternity ward of CAISM/UNICAMP during the period between 1986 and 1995. For perinatal variables, complete data of 82 newborns were used. For data analysis, distributions and means were calculated and c² and Fisher exact tests were applied. Results: generally the diagnosis was made before delivery, confirmed by ultrasound and the delivery was through a cesarean section in cases. Cephalocentesis was performed in 11 cases and complications were more frequent in vaginal delivery than cesarean section. Low Apgar scores were more frequent among newborn babies delivered vaginally. Congenital hydrocephalus was also associated with important neonatal and perinatal morbidity and mortality, with other malformations, and a very low number of children without sequelae. Conclusions: the evaluation of these factors may be of great value for the obstetrician who is following pregnant women with this fetal malformation. This could better support the decisions that, although medical and ethical, should take into account the risk-benefit ratio of measures to be taken.