Cystic hygroma: Prenatal diagnosis and genetic counselling | Zendy

Marchese C. | Zendy; Savin E. | Zendy; Dragone E. | Zendy; Carozzi F. | Zendy; De Marchi M. | Zendy; Campogrande M. | Zendy; Dolfin G. C. | Zendy; Pagliano G. | Zendy; Viora E. | Zendy; Carbonara A. | Zendy

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Cystic hygroma: Prenatal diagnosis and genetic counselling

Author(s) -

Marchese C.,

Savin E.,

Dragone E.,

Carozzi F.,

De Marchi M.,

Campogrande M.,

Dolfin G. C.,

Pagliano G.,

Viora E.,

Carbonara A.

Publication year - 1985

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.1970050310

Subject(s) - cystic hygroma , genetic counseling , fetus , karyotype , prenatal diagnosis , trisomy , autopsy , obstetrics , family history , medicine , pregnancy , biology , genetics , pathology , chromosome , gene

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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