RESUMO
INTRODUCTION: Brain tumors are present in 2.9 per 100,000 newborn. Craniopharyngioma is a benign and slow growing brain tumor, frequently localized in the sellar and suprasellar region. There are few reports of pituitary tumor detected prenatally. CASE REPORT: We report a neonate with a craniopharyngioma detected prenatally as a pituitary tumor. In a 23 year old mother, second gestation, with no important history, was detected a sellar tumor at 31 gestation weeks, the obstetric ultrasound reported a suprasellar tumor of 2 per 3 cm diameter. Pregnancy ended in a vaginal delivery at 39 weeks, and obtained a 3.9 kg female, with cephalic diameter of 37.5 cm, the Apgar score was 8-9 at 1st and 5th minutes. In early neonatal period was scanned and confirmed a 3.2/2.3/2.9 cm suprasellar tumor with calcium deposits. The Paediatric Oncology department suggested a surgery and was realized a craniotomy at 3rd week of age. The surgery allowed to obtain 30% of the tumor and confirmed by histology craniopharyngioma. Patient had favourable evolution and was discharged at 3 months of age. CONCLUSIONS: We report a neonate in who was detected by prenatal ultrasound the presence of a suprasellar solid tumor, scan and magnetic resonance images in neonatal period defined its size and location and a craniopharyngioma was confirmed by histology. Patient had a satisfactory postsurgical evolution and was discharged at 3 months of age.
Assuntos
Craniofaringioma/congênito , Neoplasias Hipofisárias/congênito , Ultrassonografia Pré-Natal , Craniofaringioma/diagnóstico por imagem , Craniofaringioma/embriologia , Craniofaringioma/cirurgia , Craniotomia , Feminino , Humanos , Hipofisectomia/métodos , Recém-Nascido , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/embriologia , Neoplasias Hipofisárias/cirurgia , Indução de Remissão , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
UNLABELLED: There are few reports of prenatal diagnosis of severe pulmonary valvar stenosis (PVS). It affects 1/22,000 newborn and represents 8-10% of total congenital cardiac defects. Clinic CASE: we report a case of a neonate in which was prenatally detected a pulmonary valvar stenosis and was successfully corrected with early valvuloplasty. From a 36-Year-old woman sent to evaluation to the fetal maternal unit because a tricuspid valvar insufficiency detected at 36 gestation weeks (GW). A VPS was suspected before born and a pregnancy ended in programated caesarean delivery at 38 GW, obtaining a 3 kg male, in which early echocardiography reported a severe PVS, promptly was initiated prostaglandin E1 (PgE1) infusion avoiding patent ductus arteriosus (PDA) closure, following a percutaneus balloon dilatation valvuloplasty at 48 hours, improving cyanosis and transvalvular Doppler flow. CONCLUSION: we report a neonate referred with an opportune prenatal diagnosis of tricuspid insufficiency and confirmed a severe PVS, PgE1 was infused immediately after born, allowing successfully balloon dilatation valvuloplasty in first 48 hours.
Assuntos
Cateterismo , Estenose da Valva Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/terapia , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Recém-NascidoRESUMO
Polycystic kidney disease is a common genetic cause of chronic kidney disease, characterized by the formation of multiple cysts in the kidneys and other organs, occurs in 1 in 20,000 live births. 30 to 50% of affected newborns die shortly after birth because of respiratory and renal insufficiency. This study reports the case of a newborn with polycystic kidney disease diagnosed by obstetric ultrasound at 26 weeks of gestation and kidneys anhidramnios due to increased volume and appearance "in sponge." Neonato a primigravida 19 years of age. At 26 weeks you will be detected in a routine obstetric evaluation that measures were in line for somatométricas fetal gestational age, and anhidramnios increase in renal mass and bilateral thorax narrow. The pregnancy ended in a cesarean section at 37 weeks with a newborn of 3140 g, women who died within minutes after birth. We requested an autopsy because of the need for genetic counseling. The findings were: enlarged kidneys with microcystic dilatation of collecting duct and in the renal cortex and medulla, liver fibrosis and Müllerian duplication with double uterine cavity. It is a rare association between polycystic kidney disease and Müllerian duplication, liver fibrosis confirmed by autopsy and has not been documented previously.
Assuntos
Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/diagnóstico por imagem , Doenças Renais Policísticas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Humanos , Recém-NascidoRESUMO
BACKGROUND: pregnant women with Rh alloimmunization (RhA) are submitted to invasive procedures to assess fetal anemia (FA). Recently a non-invasive approach to FA diagnosis has been proposed using Doppler ultrasound (DU) to identify increased peak velocity of systolic blood flow (Vm) in the middle cerebral artery (MCA). METHODOLOGY: eleven Rh alloimmunized pregnant women with serum red-cell antibody titers > 1:16 were included. Twenty-four procedures were done measuring the VmMCA followed by cordocentesis and fetal hemoglobin (FH) analysis. Pearson's linear correlation was calculated between the multiples of the median (MoM) of the VmMCA and the MoM of the FH, as well as the sensitivity, specificity and positive predictive value (PPV) for FA prediction. RESULTS: we found FA (FH mean = 6 g/dL) in 12 of 24 evaluations with a VmMCA mean of 1.5 MoM and a range from 1.22 to 1.68 MoM; in the remaining 12 cases the FH was normal (FH mean = 13.1 g/dL) with a VmMCA mean of 0.97 MoM and a range from 0.35-1.17 MoM (p < 0.001). Eleven fetuses with anemia had a MoM of the VmMCA above 1.29, except one with 1.22 MoM. The linear correlation between the MoM of the VmMCA and the MoM of FH was 0.83. The sensitivity of the MoM of the VmMCA to detect FA was 91%, specificity of 100% and PPV of 100%. CONCLUSIONS: DU measurement of the VmMCA was a useful non-invasive technique to evaluate FA. The sensitivity and PPV for FA diagnosis in RhA was above 90%.
Assuntos
Anemia/sangue , Anemia/diagnóstico por imagem , Doenças Fetais/sangue , Doenças Fetais/diagnóstico por imagem , Isoimunização Rh , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Feminino , Humanos , Valor Preditivo dos Testes , Gravidez , Sensibilidade e EspecificidadeRESUMO
INTRODUCTION: The prevalence of congenital cardiac defects is 8 per 1000 neonates, and it's different if high or low risk populations are studied. The fetal ultrasonographic increase prenatal detection but varies from 7 to 90%. OBJECTIVES: To know the prevalence of fetal cardiopathy and detection in high risk pregnancies. PATIENTS AND METHODS: A observational study was made in pregnancies women with 16 old week of gestation. RESULTS: We received a total of 3500 high-risk pregnancies and were detected 112 cases with fetal cardiopathy (3.2%). The 30% of them had a risk factor of cardiopathy. The most frequent fetal cardiac defect detected were arrhythmia in 34 fetus, septal defects in 30, valvular defects in 17, hypoplasic or absence of cardiac cavities 16, tronco-conus defects 8, and other 7 included ectopia cordis 3, cardiac tumor 2, abnormal drainage of pulmonary veins 2. The diagnosis increased every year since started study. The prenatal diagnoses suspected in fetal echocardiography were confirmed in 80% of the cases in neonatal period. CONCLUSION: The detection rate of fetal cardiac defect was 3.2% in high-risk pregnancies, four times higher than general population prevalence of congenital heart disease. We found a 30% overall perinatal mortality in fetal cardiac defect. The most frequent fetal cardiac defects found in this screening were arrhythmias and septal ventricular defects in almost 50% of patients.
Assuntos
Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Ultrassonografia Pré-Natal , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Gravidez , PrevalênciaRESUMO
The pentalogy of Cantrell is a rare congenital syndrome characterized by deficiency of the anterior diaphragm and defects of abdominal wall, the pericardium, the lower sternum, as well as congenital intracardiac abnormalities. It has usually a poor prognosis, but most cases have had incomplete variants of this syndrome, so it is important to make a prenatal diagnosis to determine the size of the wall defect and to establish a multidisciplinary management. Less than 90 cases have been reported in the world literature. There are no casuistic or even treatment criteria in Latin America. A case of a newborn in whom was suspected this pentalogy associated to bilateral cleft lip by an ultrasound examination at 25 week of gestation is described. We also comment on diagnostic aspects, as well as anatomopathological, therapeutic, and prognostic characteristics.