Higroma quístico - Diagnóstico pré-natal, prognóstico obstétrico e pediátrico / Cystic hygroma - Prenatal diagnosis, obstetric and pediatric outcome

Introdução: O higroma quístico (HQ) é uma malformação congénita diagnosticada durante a gravidez pela demonstração ecográfica de uma estrutura quística na região occipitocervical. Pode surgir isolado ou em associação a anomalias cromossómicas, malformações fetais ou síndromes genéticas, com prognóstico global reservado. O objetivo deste trabalho foi avaliar a conduta obstétrica e os resultados pediátricos dos sobreviventes com higroma quístico (HQ). Material e métodos: Estudo retrospetivo descritivo de 224 grávidas com HQ fetal, diagnosticadas ou referenciadas ao Centro de Diagnóstico Pré-Natal da nossa instituição, entre janeiro de 1991 e julho de 2011. Resultados: A idade gestacional média ao diagnóstico foi de 13 semanas, 77,7% dos casos diagnosticados no primeiro trimestre. Ecograficamente, 66 casos estavam associados a hidrópsia. O cariótipo fetal foi determinado em 206 casos, com deteção de 107 anomalias cromossómicas. O cariótipo foi normal em 99 casos, tendo sido detetados 12 casos de doenças genéticas e 18 de malformações estruturais fetais. A interrupção médica de gravidez foi a opção de 111 pacientes, registaram-se 39 casos de morte in utero e 61 nados-vivos. O tempo médio de seguimento dos sobreviventes foi de 75 meses, tendo-se verificado um desenvolvimento psicomotor adequado em 30 casos. Conclusão: Perante o diagnóstico de HQ, é essencial esclarecer a etiologia, de modo a definir o prognóstico e orientar corretamente a gravidez. Existe uma forte correlação entre o diagnóstico de HQ com aneuploidia fetal, conferindo-lhe pior prognóstico em comparação com os casos de HQ sem evidência de alterações cromossómicas ou malformações estruturais fetais, geralmente com bons resultados neonatais e pediátricos (AU)

Introduction: Fetal cystic hygroma (CH) is a congenital malformation prenatally diagnosed by the demonstration of a cystic structure in the occipitocervical region on ultrasound. It may appear isolated or in association with chromosomal abnormalities, fetal malformations or genetic syndromes, with a poor overall prognosis. The main purpose of this work was the evaluation of the obstetric management and paediatric outcome for the survivors of CH. Material and method: Retrospective analysis of 224 pregnant women with fetal CH, diagnosed or referred to our prenatal diagnosis centre, from January 1991 to July 2011. Results: The mean gestational age at diagnosis was 13 weeks and 77.7% of cases were diagnosed in the first trimester. On ultrasound, 66 cases were associated with hydrops. Fetal karyotype was obtained in 206 cases, and chromosomal abnormalities were found in 107. Fetal karyotype was normal in 99 cases, detected 12 cases of genetic diseases and 18 cases of fetal malformations. Elective pregnancy termination was undertaken by 111 patients. There were 39 cases of spontaneous fetal demise and 61 live births. The mean follow-up of survivors was 75 months, and normal paediatric outcome was confirmed in 30 cases. Conclusion: It is essential to clarify the underlying aetiology of CH in order to establish a prognosis and counselling. There is a strong association with fetal aneuploidy and significantly worse outcome in contrast in cases without evidence of chromosomal or structural abnormalities, most of them carrying good prognosis (AU)

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[Congenital ranula]. / Rânula congénita.

The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.

The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings.