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.

Cystic hygroma: prenatal diagnosis and genetic counselling.

DE MARCHI, Mario;CARBONARA, Angelo
1985

Abstract

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.
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MARCHESE C ;SAVIN E ;DRAGONE E ;CAROZZI F ;DE MARCHI M ;CAMPOGRANDE M ;DOLFIN GC ;PAGLIANO G ;VIORA E ;CARBONARA A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/30122
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