title: Fetal cholecystomegaly: a prenatal marker of aneuploidy.
abstract: The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19-31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one women underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.
authors.affiliation: Centre for Fetal Care, Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's Hospital, London, U.K.
authors.forename: W
authors.initials: W
authors.lastname: Sepulveda
authors.forename: P
authors.initials: P
authors.lastname: Nicolaidis
authors.forename: J
authors.initials: J
authors.lastname: Hollingsworth
authors.forename: N M
authors.initials: NM
authors.lastname: Fisk
mesh_terms: D000782:Aneuploidy; D005260:Female; D005500:Follow-Up Studies; D005704:Gallbladder / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal
chemical_list: D005819:Genetic Markers