Brons J T, van der Harten H J, Wladimiroff J W, van Geijn H P, Dijkstra P F, Exalto N, Reuss A, Niermeijer M F, Meijer C J, Arts N F
Department of Obstetrics and Gynecology, Academisch Ziekenhuid Vrije Universiteit, Amsterdam, The Netherlands.
Am J Obstet Gynecol. 1988 Jul;159(1):176-81. doi: 10.1016/0002-9378(88)90516-9.
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.
1982年至1986年间，超声诊断出7例胎儿患有成骨不全症。产前超声检查结果证实了成骨不全症已知的异质性。根据成骨不全症的类型，四肢的表现各不相同，从严重缩短和增宽、回声极低且无声影（IIA型），到仅中度缩短和变细、回声几乎正常且有声影，但可见明显骨折导致骨成角（IIC型和III型）。超声检查能够在孕中期早期（IIA型）或中期（IIB型、IIC型和III型）检测或排除致死性和严重型成骨不全症。该疾病的产前诊断可为选择性流产提供选择，或可避免不必要的产科干预。
