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产前超声的作用以及X线和CT尸检影像学检查在疑似胎儿骨骼发育不良中的附加价值

The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.

作者信息

Rajala Katri, Toiviainen-Salo Sanna, Mäkitie Outi, Stefanovic Vedran, Tanner Laura

机构信息

Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland.

Department of Pediatric Radiology HUS Medical Imaging Center, Radiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

出版信息

Prenat Diagn. 2025 Jan;45(1):77-88. doi: 10.1002/pd.6732. Epub 2024 Dec 15.

DOI:10.1002/pd.6732
PMID:39674903
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11717737/
Abstract

OBJECTIVE

This study aims to assess the diagnostic value of post-mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort.

METHOD

Prenatal ultrasound findings and their association with post-mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally suspected skeletal dysplasia.

RESULTS

Prenatal ultrasound performed well in detecting skeletal dysplasias and severe forms of the disease. Additional radiographic imaging was performed post-mortem in 16/27 terminated pregnancies. Post-mortem X-ray and 3D-CT detected several features not seen with US. They were superior to US in identifying spinal and thoracic anomalies and performed better in discovering fractures and deformities of long bones. In addition, disease-specific findings became more accurate with X-ray/CT, especially in the group of true skeletal dysplasias (14/18, 77.8%). Post-mortem X-ray and CT increased phenotypic data and facilitated interpretation of genetic findings.

CONCLUSION

Post-mortem X-ray and CT offer additional information supporting the diagnostic process. Detailed phenotypic data are important in interpreting the results of genetic analyses and in assessing the recurrence risk in future pregnancies. Complementary imaging methods including post-mortem radiography are therefore recommended.

摘要

目的

本研究旨在评估在芬兰一个大型队列中，与产前超声相比，尸检影像学对疑似胎儿骨骼发育不良的诊断价值。

方法

对36例产前疑似骨骼发育不良的胎儿队列进行产前超声检查结果及其与尸检影像学相关性的评估。

结果

产前超声在检测骨骼发育不良和严重形式的疾病方面表现良好。在27例终止妊娠的病例中，有16例进行了尸检影像学检查。尸检X线和三维CT检测到了一些超声未发现的特征。它们在识别脊柱和胸廓异常方面优于超声，在发现长骨骨折和畸形方面表现更好。此外，X线/CT对疾病特异性表现的诊断更为准确，尤其是在真正的骨骼发育不良组（14/18，77.8%）。尸检X线和CT增加了表型数据，便于对基因检测结果进行解读。

结论

尸检X线和CT提供了支持诊断过程的额外信息。详细的表型数据对于解读基因分析结果和评估未来妊娠的复发风险非常重要。因此，建议采用包括尸检X线摄影在内的补充成像方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/4db4515ce530/PD-45-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/c1c295c8ad4f/PD-45-77-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/2d3bef6c17da/PD-45-77-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/fbcf6d5b0a77/PD-45-77-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/eb6fd8bf52d1/PD-45-77-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/4db4515ce530/PD-45-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/c1c295c8ad4f/PD-45-77-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/2d3bef6c17da/PD-45-77-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/fbcf6d5b0a77/PD-45-77-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/eb6fd8bf52d1/PD-45-77-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17c/11717737/4db4515ce530/PD-45-77-g001.jpg

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