title: Prenatal diagnosis and management in fetuses with cystic hygromata colli.
abstract: We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.
authors.affiliation: Department of Obstetrics and Gynecology, University of Bonn, F.R.G.
authors.forename: U
authors.initials: U
authors.lastname: Gembruch
authors.forename: M
authors.initials: M
authors.lastname: Hansmann
authors.forename: R
authors.initials: R
authors.lastname: Bald
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
authors.forename: H J
authors.initials: HJ
authors.lastname: Födisch
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D007621:Karyotyping; D008202:Lymphangioma / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D014463:Ultrasonography