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Rev Bras Ginecol Obstet. 2012;34(7):310-315
DOI 10.1590/S0100-72032012000700004
PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
Summary
Rev Bras Ginecol Obstet. 2012;34(7):310-315
DOI 10.1590/S0100-72032012000700004
PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
Summary
Rev Bras Ginecol Obstet. 2015;37(7):333-338
DOI 10.1590/S0100-720320150005373
To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition.
A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05).
Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively.
Many fetal malformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.
Summary
Rev Bras Ginecol Obstet. 2015;37(7):333-338
DOI 10.1590/S0100-720320150005373
To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition.
A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05).
Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively.
Many fetal malformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.
, Summary
Rev Bras Ginecol Obstet. 2019;41(9):539-547
, To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up.
Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded.
A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications.
The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment.
Summary
Rev Bras Ginecol Obstet. 2019;41(9):539-547
, To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up.
Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded.
A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications.
The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment.
Summary
Rev Bras Ginecol Obstet. 2013;35(12):549-553
DOI 10.1590/S0100-72032013001200004
PURPOSE: To analyze the perinatal mortality rate in cases of gastroschisis and possible associated factors. METHODS: A retrospective cohort study was conducted between 1992 and 2012. All cases of gastroschisis born in Hospital de Clínicas de Porto Alegre (HCPA) during that period were included. The diagnosis of gastroschisis was obtained by morphological ultrasound examination or clinical examination at birth in prenatally unknown cases. The variables of birth (birthweight, gestational age and Apgar score, mode of delivery, type of gastroschisis and associated anomalies) and the surgical ones (type of surgical closure, reintervention and sepsis) were compared between surviving cases and deaths. The results of this comparison were analyzed according to the type of variable using parametric and non-parametric tests (Mann-Whitney or Student's t-test, χ² or Fisher's exact test), with the level of significance set at 5% (p=0.05). RESULTS: Sixty-four newborns with gastroschisis were included, 59 of them (92.2%) diagnosed during the prenatal period. Twenty-six patients (40.6%) had only exposed intestines, classified as simple gastroschisis, 22 had exposure of the intestines and stomach (34.4%) and 16 had exposure of the intestine and other organs (25%), for a total of 38 cases of complex gastroschisis. Primary surgical repair was performed in 44 cases (68.8%). The mortality rate was 23.4% (15 deaths). Babies who died had significantly lower birth weight (p=0.001), gestational age (p=0.03) and Apgar score (p=0.03) than survivors. There was no difference in mode of delivery (p=0.8) and, with respect to gut contents, there was no difference between the cases of simple and complex gastroschisis (p=0.06). Mortality was significantly higher in patients with sepsis (p=0.008) and reintervention (p=0.001). CONCLUSION: in the present study, perinatal mortality due to gastroschisis seemed to depend mainly on prematurity, low birth weight, and surgical complications.
Summary
Rev Bras Ginecol Obstet. 2013;35(12):549-553
DOI 10.1590/S0100-72032013001200004
PURPOSE: To analyze the perinatal mortality rate in cases of gastroschisis and possible associated factors. METHODS: A retrospective cohort study was conducted between 1992 and 2012. All cases of gastroschisis born in Hospital de Clínicas de Porto Alegre (HCPA) during that period were included. The diagnosis of gastroschisis was obtained by morphological ultrasound examination or clinical examination at birth in prenatally unknown cases. The variables of birth (birthweight, gestational age and Apgar score, mode of delivery, type of gastroschisis and associated anomalies) and the surgical ones (type of surgical closure, reintervention and sepsis) were compared between surviving cases and deaths. The results of this comparison were analyzed according to the type of variable using parametric and non-parametric tests (Mann-Whitney or Student's t-test, χ² or Fisher's exact test), with the level of significance set at 5% (p=0.05). RESULTS: Sixty-four newborns with gastroschisis were included, 59 of them (92.2%) diagnosed during the prenatal period. Twenty-six patients (40.6%) had only exposed intestines, classified as simple gastroschisis, 22 had exposure of the intestines and stomach (34.4%) and 16 had exposure of the intestine and other organs (25%), for a total of 38 cases of complex gastroschisis. Primary surgical repair was performed in 44 cases (68.8%). The mortality rate was 23.4% (15 deaths). Babies who died had significantly lower birth weight (p=0.001), gestational age (p=0.03) and Apgar score (p=0.03) than survivors. There was no difference in mode of delivery (p=0.8) and, with respect to gut contents, there was no difference between the cases of simple and complex gastroschisis (p=0.06). Mortality was significantly higher in patients with sepsis (p=0.008) and reintervention (p=0.001). CONCLUSION: in the present study, perinatal mortality due to gastroschisis seemed to depend mainly on prematurity, low birth weight, and surgical complications.