RESUMO
INTRODUCTION AND OBJECTIVES: To study the diagnostic and outcome aspects of antenatally diagnosed primary megaureters and analyse the results of the postnatal medicochirurgical management. PATIENTS AND METHODS: The authors report a retrospective analysis of 12 patients been born between 1998 and 2009 with primary megaureter antenatally diagnosed between 20 and 32weeks of gestation. A postnatal radiological assessment comprising urinary tract ultrasound, DTPA or MAG3 renal scintigraphy, retrograde cystography, DMSA renal scintigraphy and intravenous urography was performed. All the patients were put under urinary antiseptic treatment and followed since the birth. RESULTS: This study comprised nine boys and three girls, all been born at term with normal trophicity. Mean age of antenatal diagnosis of hydronephrosis was 26weeks of gestation. Mean age of definitive postnatal diagnosis was ten months. Left megaureter was seen in five children, right in two cases and five patients had bilateral megaureter comprising a total of 17 renal units of which eight units were non-obstructed/non-refluxing, three units were refluxing, five units were obstructed and one unit was obstructed and refluxing. Megaureter was associated to controlateral ureteropelvic junction obstruction syndrome in one patient and to ipsilateral ureteral duplicity with a superior polar kidney in another case. Renal function was less than 20% in four renal units. The mean follow-up was four years (range : 10months to 11years). Outcome was marked by urinary infections in seven cases of which four patients had non-obstructed/non-refluxing megaureter. Six patients required surgical correction, two for non-obstructed/non-refluxing megaureter complicated with urinary recurring infections, three for obstructed megaureter with severe renal functional deterioration and one patient for bilateral refluxing megaureter grade V. Two other patients required surgical treatment, one for controlateral ureteropelvic junction obstruction syndrome and the other for ipsilateral ureteral duplicity with destroyed superior polar kidney. Mean age at surgery was 22,6months (range : 6 months to 7 years). CONCLUSION: Half of our patients with antenatal diagnosis of primary megaureter required surgical correction. Urinary recurring infections, renal functional deterioration less than 20% and importance of ureteral dilatation with vesico-ureteric reflux grade V were predictive factors for surgery.
Assuntos
Hidronefrose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Doenças Ureterais/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Hidronefrose/terapia , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Doenças Ureterais/terapiaRESUMO
Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.
Assuntos
Cromossomos Humanos X/genética , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Criança , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Cariotipagem , Idade Materna , GravidezRESUMO
Cystic lymphangiomas are benign malformative tumors of the lymphatic vessels, rare but potentially serious and usually located in the cervical region. The diagnosis is usually easy, but the treatment is sometimes difficult because of their location and extension into the surrounding tissue. We report a case of giant cystic lymphangioma of the right axillary-thoracic wall diagnosed by prenatal ultrasound at 20 weeks gestation. The male infant was born at 37 weeks gestation with a large, swelling, lateral parietal right chest. Ultrasound soft tissue and chest CT scan confirmed the diagnosis of giant cystic lymphangioma of the right axillary-thoracic wall. Surgical excision was performed on the 21st day after birth and the mass was excised incompletely. The postoperative course was uncomplicated. Ultrasound soft tissue follow-up showed the persistence of multiple cystic structures in the axilla. Prenatal diagnosis of these tumors is essential for planning multidisciplinary management in early postnatal care.