title: Fetal nuchal oedema: associated malformations and chromosomal defects.
abstract: During an 8-year period, oedema in the dorsal cervical region that produces a characteristic tremor on ballotement of the fetal head (nuchal oedema) was observed in 145 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Nuchal oedema was distinguished from nuchal cystic hygromata and from hydrops foetalis. In 132 (91%) of the cases with nuchal oedema, there were other fetal malformations, and 53 (37%) fetuses had chromosomal abnormalities, mainly trisomy 21 but also other trisomies, deletions or translocations, triploidy and Turner syndrome. Furthermore, the chromosomally normal fetuses with nuchal oedema had a very poor prognosis because, in many cases, there was an underlying skeletal dysplasia, a genetic syndrome or cardiac defect.
authors.affiliation: Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
authors.forename: K H
authors.initials: KH
authors.lastname: Nicolaides
authors.forename: G
authors.initials: G
authors.lastname: Azar
authors.forename: R J
authors.initials: RJ
authors.lastname: Snijders
authors.forename: C M
authors.initials: CM
authors.lastname: Gosden
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications* / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009333:Neck; D011247:Pregnancy; D011379:Prognosis