Cystic hygroma: prenatal diagnosis and genetic counselling

Autor: E. Dragone, M. De Marchi, G. Pagliano, Angelo O. Carbonara, M. Campogrande, C. Marchese, Elisa Savin, G. C. Dolfin, F. Carozzi, Elsa Viora
Jazyk: angličtina
Rok vydání: 1985
Předmět:
Popis: Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.
Databáze: OpenAIRE