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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.