University College Hospitals London NHS Foundation Trust, London, UK.
Prenat Diagn. 2011 Jan;31(1):115-24. doi: 10.1002/pd.2676.
To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management.
A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by 14 weeks' gestation. A literature review was undertaken to ascertain cases with a diagnosis of a skeletal dysplasia in the late first or early second trimester.
Fifteen cases were identified from review of FMU records, including ten different dysplasias with a variety of inheritance patterns. Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. Increased nuchal translucency was reported in other cases subsequently diagnosed as having a skeletal dysplasia. In early pregnancy, common presenting features included short femora, abnormal skull shape and mineralisation, profile or chest.
Increasing use of first-trimester combined screening for Down's syndrome, with or without detailed anomaly scanning, will result in early detection of more skeletal dysplasias. Parents must be made aware that detailed postnatal pathological and radiological examination is usually required for accurate diagnosis and prediction of recurrence risks.
回顾骨骼发育不良的早期产前诊断经验，探索诊断准确性并改善管理。
对胎儿医学科（FMU）的病历进行回顾性分析，以确定在 14 周妊娠时怀疑存在骨骼发育不良的病例。进行文献回顾，以确定在孕早期或孕中期早期诊断为骨骼发育不良的病例。
从 FMU 病历回顾中确定了 15 例病例，包括十种不同的骨骼发育不良，具有多种遗传模式。只有在有阳性家族史的情况下，以及在一例致死性发育不良和一例罗伯逊综合征中，才能做出准确的产前诊断。文献回顾还发现了其他病例。随后诊断为骨骼发育不良的其他病例中，颈后透明带厚度增加。在妊娠早期，常见的表现包括股骨短、颅骨形状和矿化异常、轮廓或胸部异常。
随着唐氏综合征的早期筛查（包括或不包括详细的异常扫描）的应用越来越广泛，将更早地发现更多的骨骼发育不良病例。必须让父母意识到，通常需要进行详细的产后病理和放射学检查，以进行准确的诊断和预测复发风险。
