Cystic hygroma: prenatal diagnosis and genetic counselling.
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.
D000328:Adult; D005260:Female; D005333:Fetus / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008202:Lymphangioma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis; D014427:Twins; D014463:Ultrasonography