RESUMO
Nuchal cystic hygroma (NCH) and non immune hydrops (NIH) were detected by ultrasound examinations in two sib male fetuses. Fetal and parental karyotypes were normal. The parents elected to terminate the two pregnancies. Post mortem examination showed no anomalies other than those detected by ultrasound. The family history shows consanguinity supporting the hypothesis, in this family, of an autosomal recessive inheritance of the cystic hygroma/non immune hydrops.
Assuntos
Doenças Fetais/genética , Genes Recessivos/genética , Neoplasias de Cabeça e Pescoço/genética , Hidropisia Fetal/genética , Linfangioma Cístico/genética , Diagnóstico Diferencial , Feminino , Doenças Fetais/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Humanos , Hidropisia Fetal/diagnóstico , Linfangioma Cístico/diagnóstico , Masculino , Linhagem , Gravidez , Resultado da GravidezRESUMO
A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.
Assuntos
Encefalocele/complicações , Deformidades Congênitas da Mão , Doenças Renais Policísticas/diagnóstico , Diagnóstico Pré-Natal , Ultrassonografia , Adulto , Feminino , Humanos , Doenças Renais Policísticas/patologia , Gravidez , Primeiro Trimestre da Gravidez , Fatores de Risco , SíndromeRESUMO
A case of fetal "duodenal" obstruction was brought to our attention at 37 weeks gestation. The patient was referred to our Prenatal Diagnosis Center with an ultrasound finding of "double bubble" in the abdominal area of the fetus. We submitted the patient to an aimed ultrasound examination in order to establish the etiopathogenetic mechanism and to perfect the diagnosis. The ultrasound scans of the epigastric region strongly suggested the presence of annular pancreas. The diagnosis of duodenal stenosis due to annular pancreas was confirmed at birth and the infant underwent corrective surgery: duodeno-jejunostomy was successfully performed. We would like, in this context, to stress again the powerful diagnostic value of ultrasound investigation, when dealing with complex fetal malformations. The present report shows that high resolution echographic equipment and the ever-increasing qualification of medical staff make it possible to envisage the presence of annular pancreas already in prenatal life.