Strawberry-shaped skull in fetal trisomy 18.
During an 8-year period, a strawberry-shaped skull (flattening of the occiput with pointing of the frontal bones), was observed in 54 (3%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. In all 54 cases with a strawberry-shaped skull, there were other fetal malformations; in 43 (80%) fetuses, there was trisomy 18 and in 1 triploidy. Therefore, the ultrasonographic finding of a strawberry-shaped skull should initiate a diligent search for the presence of other markers of trisomy 18 and is a strong indication for fetal karyotyping. However, in the total series of 2,086 fetuses with malformations and/or growth retardation, there were another 40 fetuses with trisomy 18 and 41 with triploidy who did not have a strawberry-shaped skull.
Nicolaides
K H
KH
Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London, UK.
Salvesen
D R
DR
Snijders
R J
RJ
Gosden
C M
CM
D000015:Abnormalities, Multiple / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011379:Prognosis; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014314:Trisomy; D016216:Ultrasonography, Prenatal