title: Prenatal ultrasonographic diagnosis of osteogenesis imperfecta.
abstract: Between 1982 and 1986, osteogenesis imperfecta was diagnosed by ultrasound in seven fetuses. The known heterogeneity of osteogenesis imperfecta was confirmed by the prenatal ultrasonographic findings. Dependent on the type of osteogenesis imperfecta, the appearance of the limbs varied from severely shortened and broad, with very low echogeneity and absent acoustic shadow (type IIA), to only moderately shortened and thin, with almost normal echogeneity and acoustic shadow but clearly visible fractures causing angulation of the bone (types IIC and III). Ultrasonography offers the possibility to detect or exclude the lethal and severe forms of osteogenesis imperfecta early (type IIA) or halfway (types IIB, IIC, and III) through the second trimester. Prenatal diagnosis of the disease allows the option of elective abortion or may prevent unnecessary obstetric intervention.
authors.affiliation: Department of Obstetrics and Gynecology, Academisch Ziekenhuid Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: J T
authors.initials: JT
authors.lastname: Brons
authors.forename: H J
authors.initials: HJ
authors.lastname: van der Harten
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
authors.forename: H P
authors.initials: HP
authors.lastname: van Geijn
authors.forename: P F
authors.initials: PF
authors.lastname: Dijkstra
authors.forename: N
authors.initials: N
authors.lastname: Exalto
authors.forename: A
authors.initials: A
authors.lastname: Reuss
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: C J
authors.initials: CJ
authors.lastname: Meijer
authors.forename: N F
authors.initials: NF
authors.lastname: Arts
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005865:Gestational Age; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography