Japan Forum of Fetal Skeletal Dysplasia, Tokyo, Japan.
Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.
Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as . The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity - most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.
骨发育不良是一种罕见的疾病，但总体来说较为常见。骨发育不良，尤其是围产期致死性发育不良的产前诊断，对产科服务具有重要意义。目前，遗传性骨骼疾病的分类学涵盖了超过 400 种疾病。然而，在临床实践中，我们仅会遇到有限数量的疾病，如。最近，利用母体血液样本中的游离胎儿 DNA 进行非侵入性产前基因检测的发展，对遗传性疾病的产前诊断产生了重大影响。然而，影像学检查对于骨发育不良的最终诊断仍然至关重要，因为分子检测仅显示遗传变异，而不显示其致病性——大多数变异在临床上并不重要。当筛查超声发现肢体缩短时，通常会怀疑存在骨发育不良。进一步的评估可以通过更详细的超声、磁共振成像（MRI）和 CT 进行。基于这些数据，即使无法进行明确的产前诊断，也可以做出合理的决策。在这里，我们强调了目前可用的影像学检查方法获得的常见骨发育不良的关键图像。
