Fetal diseases Archives - Revista Brasileira de Ginecologia e Obstetrícia
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Rev Bras Ginecol Obstet. 2024;46:e-rbgo22
, , , RhD alloimmunization in pregnancy is still the main cause of hemolytic disease of the fetus and neonate (HDFN). Nevertheless, there are other antigens that may be associated with the occurrence of this phenomenon and that have been growing in proportion, given that current prevention strategies focus only on anti-RhD antibodies. Although not widespread, the screening and diagnostic management of the disease caused by these antibodies has recommendations in the literature. For this reason, the following review was carried out with the objective of listing the main red blood cell antigen groups described — such as Rh, ABO, Kell, MNS, Duffy, Kidd, among others — addressing the clinical importance of each one, prevalence in different countries, and recommended management when detecting such antibodies during pregnancy.
Summary
Rev Bras Ginecol Obstet. 2024;46:e-rbgo22
, , , RhD alloimmunization in pregnancy is still the main cause of hemolytic disease of the fetus and neonate (HDFN). Nevertheless, there are other antigens that may be associated with the occurrence of this phenomenon and that have been growing in proportion, given that current prevention strategies focus only on anti-RhD antibodies. Although not widespread, the screening and diagnostic management of the disease caused by these antibodies has recommendations in the literature. For this reason, the following review was carried out with the objective of listing the main red blood cell antigen groups described — such as Rh, ABO, Kell, MNS, Duffy, Kidd, among others — addressing the clinical importance of each one, prevalence in different countries, and recommended management when detecting such antibodies during pregnancy.
Summary
Rev Bras Ginecol Obstet. 2010;32(4):156-162
DOI 10.1590/S0100-72032010000400002
PURPOSE: to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period. METHODS: during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk factors for fetal malformations. Fetuses with hyperechogenic intracardiac masses larger than 1 mm diagnosed by ultrasound evaluation of the fetal heart, were selected for study. The differential diagnosis between the different tumor types was made on the basis of the ultrasound characteristics of the masses. RESULTS: five fetuses with hiperechogenic intracardiac masses were diagnosed, corresponding to a 0.06% prevalence rate. Gestational age ranged from 28 to 36 weeks (mean: 31), and maternal age ranged from 23 to 45 years (mean: 34,2). The most frequent location of the masses was the left ventricle (100%). Echographically, all masses were single or multiple, hyperechogenic, homogeneous and well delimited, compatible with a diagnosis of rhabomyoma. In cases in which the diameters of the masses were less than 20 mm, an expectant conduct was followed and no complications occurred during the prenatal period. One case with a huge tumor presented arrhythmia and cardiac insufficiency during the 35 gestational weeks, and the interruption of pregnancy was indicated. Tuberous sclerosis was associated in four cases (80%) and the diagnosis was confirmed during the postnatal follow-up. CONCLUSIONS: fetal morphological ultrasonography is the main form of early detection of primary cardiac tumors. The fetal cardiac evaluation is of fundamental importance for the differential morphological characterization of cardiac masses and for the evaluation of cardiac function. Rhabdomyomas are the most common type of fetal tumor. An expectant pre and postnatal conduct is followed, with a low risk of complications and with the possibility of spontaneous regression in most cases. Postnatal clinical follow-up is mandatory due to the high frequency of associated tuberous sclerosis.
Summary
Rev Bras Ginecol Obstet. 2010;32(4):156-162
DOI 10.1590/S0100-72032010000400002
PURPOSE: to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period. METHODS: during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk factors for fetal malformations. Fetuses with hyperechogenic intracardiac masses larger than 1 mm diagnosed by ultrasound evaluation of the fetal heart, were selected for study. The differential diagnosis between the different tumor types was made on the basis of the ultrasound characteristics of the masses. RESULTS: five fetuses with hiperechogenic intracardiac masses were diagnosed, corresponding to a 0.06% prevalence rate. Gestational age ranged from 28 to 36 weeks (mean: 31), and maternal age ranged from 23 to 45 years (mean: 34,2). The most frequent location of the masses was the left ventricle (100%). Echographically, all masses were single or multiple, hyperechogenic, homogeneous and well delimited, compatible with a diagnosis of rhabomyoma. In cases in which the diameters of the masses were less than 20 mm, an expectant conduct was followed and no complications occurred during the prenatal period. One case with a huge tumor presented arrhythmia and cardiac insufficiency during the 35 gestational weeks, and the interruption of pregnancy was indicated. Tuberous sclerosis was associated in four cases (80%) and the diagnosis was confirmed during the postnatal follow-up. CONCLUSIONS: fetal morphological ultrasonography is the main form of early detection of primary cardiac tumors. The fetal cardiac evaluation is of fundamental importance for the differential morphological characterization of cardiac masses and for the evaluation of cardiac function. Rhabdomyomas are the most common type of fetal tumor. An expectant pre and postnatal conduct is followed, with a low risk of complications and with the possibility of spontaneous regression in most cases. Postnatal clinical follow-up is mandatory due to the high frequency of associated tuberous sclerosis.
Summary
Rev Bras Ginecol Obstet. 2010;32(2):66-71
DOI 10.1590/S0100-72032010000200003
PURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3% of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p<0.0001) and had an area under the ROC curve of 0.78 (95%CI=0.66-0.89). The 2.9 mmol/L plasma concentration of fructosamine revealed EFCC with better specificity, but with a higher percentage of false-negative results (96.8 and 55.9%). Values above 2.68 mmol/L were associated with a probability of 4.6 to identify fetuses with EFCC compared with lower values, with 58.8% of sensitivity and 87.1%, specificity. The value of 2.23 mmol/L proved to be the most overall accurate of the three values suggested, with a sensitivity of 88.2% in the identification of fetuses with echocardiographic abnormalities. CONCLUSIONS: it is possible to use a second trimester plasma fructosamine level to refer high risk pregnant women to a reference center of fetal echocardiography. These findings are important for the management of women with diabetes mellitus who initiate late prenatal care.
Summary
Rev Bras Ginecol Obstet. 2010;32(2):66-71
DOI 10.1590/S0100-72032010000200003
PURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3% of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p<0.0001) and had an area under the ROC curve of 0.78 (95%CI=0.66-0.89). The 2.9 mmol/L plasma concentration of fructosamine revealed EFCC with better specificity, but with a higher percentage of false-negative results (96.8 and 55.9%). Values above 2.68 mmol/L were associated with a probability of 4.6 to identify fetuses with EFCC compared with lower values, with 58.8% of sensitivity and 87.1%, specificity. The value of 2.23 mmol/L proved to be the most overall accurate of the three values suggested, with a sensitivity of 88.2% in the identification of fetuses with echocardiographic abnormalities. CONCLUSIONS: it is possible to use a second trimester plasma fructosamine level to refer high risk pregnant women to a reference center of fetal echocardiography. These findings are important for the management of women with diabetes mellitus who initiate late prenatal care.
Summary
Rev Bras Ginecol Obstet. 2009;31(11):540-546
DOI 10.1590/S0100-72032009001100003
PURPOSE: to verify the association between ultrasonographic signs during gestation and post-delivery evolution in fetuses with bilateral obstructive uropathies, followed up in an expectant way. METHODS: fetuses with bilateral obstructive uropathies presenting severe oligoamnios and narrow thorax have been compared with fetuses with bilateral obstructive uropathies without those alterations, concerning the presence or absence of cysts in both kidneys, and the presence or absence of parenchymal hyperechogenicity in both kidneys. Cases of neonatal death were compared with cases of neonatal discharge from the nursery, regarding the same renal echographic aspects mentioned above, the presence of severe oligoamnios and narrow thorax. The sensitivity, specificity, positive and negative predictive value of the presence of bilateral renal cysts, bilateral renal hyperechogenicity, severe oligoamnios and narrow fetal thorax for the neonatal death were calculated. RESULTS: severe oligoamnios and narrow thorax were more frequent (p=0.03; p<0.001) in fetuses with bilateral renal cysts, as compared to those with echographically normal renal parenchyma. Neonatal death was more frequent among cases with severe oligoamnios (p<0.001), narrow thorax (p<0.001) and bilateral renal cysts (p<0.002), when respectively compared with cases without those alterations. The best values of sensitivity, specificity, positive and negative predictive value for the death of neonatal/breastfeeding infants were obtained using the echographic aspect of narrow thorax, and were 81.8, 100, 100 and 79.3%, respectively. CONCLUSIONS: in cases of fetuses with bilateral obstructive uropathies followed up in an expectant way, the ultrasonographic signs more associated to bad prognosis are severe oligoamnios, narrow fetal thorax and presence of bilateral renal cysts.
Summary
Rev Bras Ginecol Obstet. 2009;31(11):540-546
DOI 10.1590/S0100-72032009001100003
PURPOSE: to verify the association between ultrasonographic signs during gestation and post-delivery evolution in fetuses with bilateral obstructive uropathies, followed up in an expectant way. METHODS: fetuses with bilateral obstructive uropathies presenting severe oligoamnios and narrow thorax have been compared with fetuses with bilateral obstructive uropathies without those alterations, concerning the presence or absence of cysts in both kidneys, and the presence or absence of parenchymal hyperechogenicity in both kidneys. Cases of neonatal death were compared with cases of neonatal discharge from the nursery, regarding the same renal echographic aspects mentioned above, the presence of severe oligoamnios and narrow thorax. The sensitivity, specificity, positive and negative predictive value of the presence of bilateral renal cysts, bilateral renal hyperechogenicity, severe oligoamnios and narrow fetal thorax for the neonatal death were calculated. RESULTS: severe oligoamnios and narrow thorax were more frequent (p=0.03; p<0.001) in fetuses with bilateral renal cysts, as compared to those with echographically normal renal parenchyma. Neonatal death was more frequent among cases with severe oligoamnios (p<0.001), narrow thorax (p<0.001) and bilateral renal cysts (p<0.002), when respectively compared with cases without those alterations. The best values of sensitivity, specificity, positive and negative predictive value for the death of neonatal/breastfeeding infants were obtained using the echographic aspect of narrow thorax, and were 81.8, 100, 100 and 79.3%, respectively. CONCLUSIONS: in cases of fetuses with bilateral obstructive uropathies followed up in an expectant way, the ultrasonographic signs more associated to bad prognosis are severe oligoamnios, narrow fetal thorax and presence of bilateral renal cysts.
Summary
Rev Bras Ginecol Obstet. 2006;28(5):304-309
DOI 10.1590/S0100-72032006000500007
PURPOSE: to analyze the results of a screening and diagnostic program of arrhythmias and congenital heart disease in a reference hospital and the relevance of early diagnosis in the fetal and neonate evolution. METHODS: cardiac evaluation of 1159 fetuses was done in two different levels. Level I: by morphological ultrasound examination with the objective to detect the existence of either arrhythmias or structural cardiac malformations. Level II: by fetal echocardiography to establish the differential diagnosis. The results of level I in the arrhythmia group were compared with those of level II, and in the group with malformations the results of both levels were confronted with the neonate echocardiogram or necropsy. The kappa index was calculated to evaluate the concordance between the two levels. RESULTS: all detected arrhythmias in level I were confirmed in level II, there were no false negative cases and five patients with severe arrhythmia required pharmacological therapy. The diagnosis of structural malformation by level I had sensitivity of 72% and specificity of 98% and there were 28% of false-positive cases. In level II, the sensitivity and specificity of the diagnosis of congenital heart disease were 100 and 99%, respectively. The kappa index was 57% and indicated a moderate degree of concordance between the two levels. Fifty-one percent of the fetuses with diagnosis of cardiac malformations required pharmacological or invasive intervention immediately after birth. CONCLUSION: morphological ultrasound examination is a important tool in the screening of arrhythmias and congenital heart defects during fetal life. The sensitivity and specificity of the fetal echocardiogram were very high and the early diagnosis made it possible to treat the fetus with severe cardiac disease either during pregnancy or immediately after birth.
Summary
Rev Bras Ginecol Obstet. 2006;28(5):304-309
DOI 10.1590/S0100-72032006000500007
PURPOSE: to analyze the results of a screening and diagnostic program of arrhythmias and congenital heart disease in a reference hospital and the relevance of early diagnosis in the fetal and neonate evolution. METHODS: cardiac evaluation of 1159 fetuses was done in two different levels. Level I: by morphological ultrasound examination with the objective to detect the existence of either arrhythmias or structural cardiac malformations. Level II: by fetal echocardiography to establish the differential diagnosis. The results of level I in the arrhythmia group were compared with those of level II, and in the group with malformations the results of both levels were confronted with the neonate echocardiogram or necropsy. The kappa index was calculated to evaluate the concordance between the two levels. RESULTS: all detected arrhythmias in level I were confirmed in level II, there were no false negative cases and five patients with severe arrhythmia required pharmacological therapy. The diagnosis of structural malformation by level I had sensitivity of 72% and specificity of 98% and there were 28% of false-positive cases. In level II, the sensitivity and specificity of the diagnosis of congenital heart disease were 100 and 99%, respectively. The kappa index was 57% and indicated a moderate degree of concordance between the two levels. Fifty-one percent of the fetuses with diagnosis of cardiac malformations required pharmacological or invasive intervention immediately after birth. CONCLUSION: morphological ultrasound examination is a important tool in the screening of arrhythmias and congenital heart defects during fetal life. The sensitivity and specificity of the fetal echocardiogram were very high and the early diagnosis made it possible to treat the fetus with severe cardiac disease either during pregnancy or immediately after birth.
