RESUMO
Isolated fetal ascites and cri-du-chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an extensive work-up (fetal ultrasound, serologies, Coombs test, and NIPT), an amniocentesis was performed and revealed an abnormal karyotype of 46,XX,del(5)(p15.2), characteristic of CdCS. We hypothesize that isolated fetal ascites has to be considered an antenatal ultrasonographic marker for CdCS, a finding that should be confirmed in further cases.
Assuntos
Ascite/diagnóstico por imagem , Ascite/embriologia , Síndrome de Cri-du-Chat/diagnóstico por imagem , Síndrome de Cri-du-Chat/embriologia , Ultrassonografia Pré-Natal/métodos , Aborto Eugênico , Adulto , Amniocentese , Ascite/complicações , Síndrome de Cri-du-Chat/complicações , Feminino , Humanos , GravidezRESUMO
Fetal megacystis is a sonographic sign, defined in first trimester as a longitudinal bladder length (LBD)>7 mm. Different causes may be associated with megacystis and outcomes vary with many factors. There are no international guidelines on how to manage megacystis cases, and invasive testing is controversial when no other abnormalities are found. The main objective of this study is to compare etiologies, management and outcomes of fetuses with first trimester megacystis, specifically between groups of LBD≤15 mm and >15 mm. This is a retrospective cohort study of megacystis cases managed in a Prenatal Diagnosis Center, between January 2009 and September 2020. Descriptive and bivariate analysis were performed. We studied 43 fetuses: 67.4% with LBD≤15 mm and 32.6% with LBD>15 mm. We found an association between LBD and isolated Low Urinary Tract Obstruction (LUTO) (3.4% vs 64.3%; p<0.001) and with isolated megacystis (44.8% vs 0.0%; p = 0.001). No differences were seen regarding the presence of aneuploidies (31.0% vs 14.3%; p = 0.213). Invasive testing was performed in 93.0% of cases. Overall, we report 41.9% of live births, 39.5% of pregnancy termination and 18.6% of intrauterine fetal demise. We found a higher rate of live births in fetuses with LBD≤15 mm (55.2% vs 14.3%; p = 0.011). For a mean follow-up time of 20.6 months, we report one neonatal death and one case of renal insufficiency. In conclusion, isolated LUTO is more frequent if LBD>15 mm whereas isolated megacystis is more frequently found if LBD≤15 mm. If LBD≤15 mm, live birth rates and long-term outcomes seem to be enhanced.
Assuntos
Ultrassonografia Pré-Natal , Bexiga Urinária , Gravidez , Feminino , Recém-Nascido , Humanos , Bexiga Urinária/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Estudos RetrospectivosRESUMO
Desmoid tumors are rare benign neoplasms, with locally aggressive characteristics. Ongoing or previous pregnancy, antecedent trauma, and familial adenomatous polyposis are known risk factors. Still, the majority of cases are sporadic and its etiology is still unknown. These tumors may occur in any body site, but retroperitoneal and pelvic desmoid tumors are extremely rare. Nonspecific clinical and radiological findings lead to erroneous diagnosis in 50% of patients before surgery. We present a case of a young multiparous female with a deep infiltrative lesion adherent to the right pelvic sidewall leading to severe right hydroureteronephrosis and ipsilateral loss of renal function. Although deep endometriosis was suspected, malignancy features could not be excluded by imaging studies. The patient underwent an exploratory laparotomy for definite diagnosis and treatment, which led to right nephrectomy, hysterectomy, and right oophorectomy because of deep infiltration and difficult dissection. Definite histologic diagnosis revealed the presence of a pelvic desmoid tumor. Positive margins were encountered but, until this moment, no disease relapse occurred.
RESUMO
OBJECTIVE: Cesarean section (CS) delivery, especially without previous labor, is associated with worse neonatal respiratory outcomes. Some studies comparing neonatal outcomes between term infants exposed and not exposed to antenatal corticosteroids (ACS) before elective CS revealed that ACS appears to decrease the risk of respiratory distress syndrome (RDS), transient tachypnea of the neonate (TTN), admission to the neonatal intensive care unit (NICU), and the length of stay in the NICU. METHODS: The present retrospective cohort study aimed to compare neonatal outcomes in infants born trough term elective CS exposed and not exposed to ACS. Outcomes included neonatal morbidity at birth, neonatal respiratory morbidity, and general neonatal morbidity. Maternal demographic characteristics and obstetric data were analyzed as possible confounders. RESULTS: A total of 334 newborns met the inclusion criteria. One third of the population study (n = 129; 38.6%) received ACS. The present study found that the likelihood for RDS (odds ratio [OR] = 1.250; 95% confidence interval [CI]: 0.454-3.442), transient TTN (OR = 1.,623; 95%CI: 0.556-4.739), and NIUC admission (OR = 2.155; 95%CI: 0.474-9.788) was higher in the ACS exposed group, although with no statistical significance. When adjusting for gestational age and arterial hypertension, the likelihood for RDS (OR = 0,732; 95%CI: 0.240-2.232), TTN (OR = 0.959; 95%CI: 0.297-3.091), and NIUC admission (OR = 0,852; 95%CI: 0.161-4.520) become lower in the ACS exposed group. CONCLUSION: Our findings highlight the known association between CS-related respiratory morbidity and gestational age, supporting recent guidelines that advocate postponing elective CSs until 39 weeks of gestational age.
Assuntos
Corticosteroides/administração & dosagem , Cesárea/efeitos adversos , Procedimentos Cirúrgicos Eletivos/efeitos adversos , Cuidado Pré-Natal/métodos , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Tempo de Internação , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Taquipneia Transitória do Recém-Nascido/prevenção & controleRESUMO
Primary hyperparathyroidism is an endocrine disorder characterized by hypercalcemia and elevated or inappropriately normal levels of parathyroid hormone. The diagnosis is based on a biochemical evaluation, and a neck ultrasound is the first choice during pregnancy to access the parathyroid glands. Manifestations during pregnancy are rare and can be present with life-threatening complications, so the diagnosis is challenging. The conservative treatment is limited, and there is not enough data about its safety and efficacy during pregnancy. Surgery is the only curative treatment, and a parathyroidectomy performed during the second or third trimesters is considered safe. Recently, some authors suggested an association between primary hyperparathyroidism and preeclampsia. We describe a case of preeclampsia with severe features at 27 weeks of gestational age. The severity of the preeclampsia motivated an early termination of the pregnancy by cesarean section. During the postpartum period, the patient presented life-threatening complications, such as severe hypercalcemia and acute pancreatitis. An ultrasound exam found two parathyroid nodules, suggestive of parathyroid adenomas. The patient recovered after the pharmacological correction of the calcemia levels.
O hiperparatiroidismo primário é um distúrbio endócrino caraterizado pela elevação do cálcio sérico associada a níveis de paratormona elevados ou inapropriadamente normais. O diagnóstico é baseado em análises bioquímicas, e, na gravidez, o exame de imagem de primeira linha é a ecografia cervical. É uma doença rara na gravidez, e pode se apresentar com complicações ameaçadoras de vida, pelo que o seu diagnóstico é desafiante. O tratamento médico disponível é limitado, havendo poucos dados relativos à sua eficácia e segurança na gravidez. A cirurgia é o único tratamento curativo, e pode ser realizada no segundo ou terceiro trimestres. Tem sido descrita uma relação entre hiperparatiroidismo primário e pré-eclâmpsia. Apresenta-se um caso de uma grávida de 27 semanas com pré-eclâmpsia com critérios de gravidade, o que obrigou ao término da gravidez por cesariana. Verificou-se agravamento clínico no período pós-parto, com aparecimento de complicações graves, tais como hipercalcemia grave e pancreatite aguda. Ecograficamente, constataram-se duas massas paratiróideias sugestivas de adenomas da paratiroide. A doente recebeu tratamento médico, e teve melhora apenas após a correção dos níveis de cálcio sérico.
Assuntos
Adenoma/diagnóstico , Hiperparatireoidismo Primário/diagnóstico , Pancreatite/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Pré-Eclâmpsia/diagnóstico , Diagnóstico Pré-Natal , Adenoma/complicações , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Hiperparatireoidismo Primário/complicações , Recém-Nascido , Pancreatite/complicações , Neoplasias das Paratireoides/complicações , Gravidez , Complicações Neoplásicas na Gravidez/diagnóstico , Terceiro Trimestre da GravidezRESUMO
Benign Metastasizing Leiomyoma (BML) is a rare condition with few cases reported in the literature. It is usually incidentally diagnosed several years after a primary gynecological surgery for uterine leiomyoma. Differential diagnosis of BML is complex requiring an extensive work-up and exclusion of malignancy. Here, we report two cases of BML based on similarity of histopathological, immunohistochemical, and genetic patterns between lung nodules and uterine leiomyoma previously resected, evidencing the variability of clinical and radiological features of BML. We highlight the importance of 19q and 22q deletions as highly suggestive of BML. These findings are particularly relevant when there is no uterine sample for review.
RESUMO
The delayed-interval delivery is a rare, flexible and complex procedure. In light of these facts, there is no consensus on the best approach to achieve it successfully. This case report is of an asynchronous delivery, in a twin pregnancy, with a 32-day interval between births of siblings. Our obstetric management at a critical gestational age improved the outcome of the second newborn. The probability of success of delayed-interval delivery depends on the proper selection of the candidates, the appropriate active management and the continuous monitoring for early detection of complications.
RESUMO
Abstract Objective Cesarean section (CS) delivery, especially without previous labor, is associated with worse neonatal respiratory outcomes. Some studies comparing neonatal outcomes between term infants exposed and not exposed to antenatal corticosteroids (ACS) before elective CS revealed that ACS appears to decrease the risk of respiratory distress syndrome (RDS), transient tachypnea of the neonate (TTN), admission to the neonatal intensive care unit (NICU), and the length of stay in the NICU. Methods The present retrospective cohort study aimed to compare neonatal outcomes in infants born trough term elective CS exposed and not exposed to ACS. Outcomes included neonatal morbidity at birth, neonatal respiratory morbidity, and general neonatal morbidity. Maternal demographic characteristics and obstetric data were analyzed as possible confounders. Results A total of 334 newborns met the inclusion criteria. One third of the population study (n=129; 38.6%) received ACS. The present study found that the likelihood for RDS (odds ratio [OR]=1.250; 95% confidence interval [CI]: 0.454-3.442), transient TTN (OR=1.,623; 95%CI: 0.556-4.739), and NIUC admission (OR=2.155; 95%CI: 0.474-9.788) was higher in the ACS exposed group, although with no statistical significance. When adjusting for gestational age and arterial hypertension, the likelihood for RDS (OR=0,732; 95%CI: 0.240-2.232), TTN (OR=0.959; 95%CI: 0.297--3.091), and NIUC admission (OR=0,852; 95%CI: 0.161-4.520) become lower in the ACS exposed group. Conclusion Our findings highlight the known association between CS-related respiratory morbidity and gestational age, supporting recent guidelines that advocate postponing elective CSs until 39 weeks of gestational age.
Assuntos
Humanos , Feminino , Gravidez , Cuidado Pré-Natal/métodos , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Cesárea/efeitos adversos , Corticosteroides/administração & dosagem , Procedimentos Cirúrgicos Eletivos/efeitos adversos , Resultado da Gravidez , Unidades de Terapia Intensiva Neonatal , Estudos Retrospectivos , Idade Gestacional , Taquipneia Transitória do Recém-Nascido/prevenção & controle , Tempo de InternaçãoRESUMO
Abstract Primary hyperparathyroidism is an endocrine disorder characterized by hypercalcemia and elevated or inappropriately normal levels of parathyroid hormone. The diagnosis is based on a biochemical evaluation, and a neck ultrasound is the first choice during pregnancy to access the parathyroid glands. Manifestations during pregnancy are rare and can be present with life-threatening complications, so the diagnosis is challenging. The conservative treatment is limited, and there is not enough data about its safety and efficacy during pregnancy. Surgery is the only curative treatment, and a parathyroidectomy performed during the second or third trimesters is considered safe. Recently, some authors suggested an association between primary hyperparathyroidism and preeclampsia. We describe a case of preeclampsia with severe features at 27 weeks of gestational age. The severity of the preeclampsiamotivated an early termination of the pregnancy by cesarean section. During the postpartum period, the patient presented life-threatening complications, such as severe hypercalcemia and acute pancreatitis. An ultrasound exam found two parathyroid nodules, suggestive of parathyroid adenomas. The patient recovered after the pharmacological correction of the calcemia levels.
Resumo O hiperparatiroidismo primário é umdistúrbio endócrino caraterizado pela elevação do cálcio sérico associada a níveis de paratormona elevados ou inapropriadamente normais. O diagnóstico é baseado em análises bioquímicas, e, na gravidez, o exame de imagem de primeira linha é a ecografia cervical. É uma doença rara na gravidez, e pode se apresentar com complicações ameaçadoras de vida, pelo que o seu diagnóstico é desafiante. O tratamento médico disponível é limitado, havendo poucos dados relativos à sua eficácia e segurança na gravidez. A cirurgia é o único tratamento curativo, e pode ser realizada no segundo ou terceiro trimestres. Tem sido descrita uma relação entre hiperparatiroidismo primário e pré-eclâmpsia. Apresenta-se um caso de uma grávida de 27 semanas com pré-eclâmpsia com critérios de gravidade, o que obrigou ao término da gravidez por cesariana. Verificou-se agravamento clínico no período pós-parto, com aparecimento de complicações graves, tais como hipercalcemia grave e pancreatite aguda. Ecograficamente, constataram-se duas massas paratiróideias sugestivas de adenomas da paratiroide. A doente recebeu tratamento médico, e teve melhora apenas após a correção dos níveis de cálcio sérico.