Escobar L F, Bixler D, Weaver D D, Padilla L M, Golichowski A
Department of Biological Sciences, University of Notre Dame, South Bend, IN.
Am J Med Genet. 1990 Aug;36(4):488-94. doi: 10.1002/ajmg.1320360424.
The prenatal diagnosis of bone dysplasias presents difficult challenges for the clinician involved in monitoring pregnancies. Such diagnoses highlight delicate ethical issues and may require difficult decision-making when the differential diagnosis includes a lethal bone dysplasia. Despite the rapid technological advances in ultrasonography, the ability to make prenatal diagnoses within this group of disorders is limited by the restricted ultrasonographic capability to appreciate fully the detailed fetal anatomy. However, we perceive that a significant further limitation involves the lack of a systematic protocol to guide the clinician in the ultrasonographic evaluation of a fetus suspected of having a skeletal dysplasia. In an attempt to aid the clinician who is evaluating these suspected pregnancies, we report here 8 cases and propose a model protocol for the ultrasonographic diagnostic approach to fetal skeletal problems in utero.
骨发育异常的产前诊断给参与孕期监测的临床医生带来了艰巨挑战。此类诊断凸显了微妙的伦理问题，当鉴别诊断包括致死性骨发育异常时，可能需要艰难的决策。尽管超声检查技术迅速发展，但在这组疾病中进行产前诊断的能力受到超声检查充分显示详细胎儿解剖结构能力的限制。然而，我们认为一个更重要的限制是缺乏系统的方案来指导临床医生对疑似骨骼发育异常胎儿进行超声评估。为了帮助评估这些疑似妊娠的临床医生，我们在此报告8例病例，并提出一个针对子宫内胎儿骨骼问题的超声诊断方法的标准方案。
