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产前超声联合胎儿 MRI 检查:能否替代传统尸检诊断胎儿体表异常?

Combined prenatal US and post-mortem fetal MRI: can they replace conventional autopsy for fetal body abnormalities?

机构信息

Department of Radiology, Hôpital Delta (CHIREC), 1160, Brussels, Belgium.

Department of Pathology, Hospital Erasme, Université Libre de Bruxelles (ULB), 1070, Brussels, Belgium.

出版信息

Eur Radiol. 2024 Jan;34(1):632-642. doi: 10.1007/s00330-023-09847-y. Epub 2023 Aug 1.

Abstract

OBJECTIVES

The acceptance of conventional autopsy (CA), the gold standard method for investigating fetal death, often remains problematic. Post-mortem magnetic resonance imaging (PMMRI) is increasingly advocated, particularly for neurologic malformations. However, PMMRI performances to diagnose non-neurologic malformations remain unclear. We aim to clarify whether a full body CA remains needed after prenatal ultrasound (US) and PMMRI in assessing non-neurologic fetal malformations.

METHODS

In this retrospective IRB-approved study, during a 6-year period, all fetuses who underwent PMMRI, prenatal US, and full body CA were included. Body abnormalities were identified in US, PMMRI, and CA reports. US and PMMRI images were all reviewed. All abnormalities were graded as major (2 points) or minor (1 point). Each technique (US, PMMRI, CA) was given a score by adding all grading points. In each fetus, results were compared for both separate and combined US and PMMRI to CA. Sensitivity and specificity were calculated for detecting major abnormalities.

RESULTS

Fifty fetuses were included. The score of CA, US, and PMMRI was respectively 53, 37, and 46. Compared with US-PMMRI, CA added information in 2 cases (4%) with major abnormalities and 7 cases (14%) with minor abnormalities. PMMRI and US were concordant in 36/50 (72%) fetuses. Separate US/PMMRI sensitivities and specificities for detecting major body malformations respectively were 80%/80% and 100%/94%. Combined US-PMMRI had a sensitivity of 90% and a specificity of 94%. Two cardiac malformations (2/6) were only described by CA.

CONCLUSIONS

After prenatal US and PMMRI, few additional fetal body malformations are discovered with CA. Nevertheless, fetal heart autopsy remains mandatory.

CLINICAL RELEVANCE STATEMENT

A cardiac conventional autopsy complemented by prenatal ultrasound and post-mortem MRI allows to detect all major fetal body abnormalities. With this efficient and much less invasive approach, a higher acceptance rate of fetal autopsy can be expected.

KEY POINTS

• Excepting cardiac malformations, most major fetal body malformations can reliably be identified by prenatal US combined with post-mortem MRI. • In the post-mortem diagnosis of fetal body malformations, a conventional autopsy limited to the fetal heart might replace a full body autopsy after a well-conducted prenatal US and post-mortem MRI.

摘要

目的

传统尸检(CA)是调查胎儿死亡的金标准方法,但往往存在问题。越来越提倡进行死后磁共振成像(PMMRI),特别是用于神经畸形。然而,PMMRI 对诊断非神经畸形的性能仍不清楚。我们旨在阐明在评估非神经胎儿畸形时,产前超声(US)和 PMMRI 后是否仍需要进行全身 CA。

方法

在这项回顾性 IRB 批准的研究中,在 6 年期间,所有接受 PMMRI、产前 US 和全身 CA 的胎儿均被纳入研究。在 US、PMMRI 和 CA 报告中识别出身体异常。回顾所有 US 和 PMMRI 图像。所有异常均按主要(2 分)或次要(1 分)进行分级。通过添加所有分级点,为每种技术(US、PMMRI、CA)评分。在每个胎儿中,将 CA 的结果与 US 和 PMMRI 分别和联合进行比较。计算检测主要异常的敏感性和特异性。

结果

共纳入 50 例胎儿。CA、US 和 PMMRI 的评分分别为 53、37 和 46。与 US-PMMRI 相比,CA 在 2 例(4%)具有主要异常和 7 例(14%)具有次要异常的情况下提供了更多信息。36/50(72%)例胎儿的 PMMRI 和 US 结果一致。单独的 US/PMMRI 检测主要身体畸形的敏感性和特异性分别为 80%/80%和 100%/94%。联合 US-PMMRI 的敏感性为 90%,特异性为 94%。2 例心脏畸形(2/6)仅通过 CA 描述。

结论

在产前 US 和 PMMRI 之后,通过 CA 发现的胎儿身体畸形很少。然而,胎儿心脏尸检仍然是强制性的。

临床相关性声明

产前超声和死后 MRI 补充的心脏常规尸检可检测到所有主要的胎儿身体异常。通过这种高效且侵入性较小的方法,可以期望更高的胎儿尸检接受率。

关键点

  • 除心脏畸形外,大多数主要的胎儿身体畸形都可以通过产前 US 结合死后 MRI 可靠地识别。

  • 在胎儿身体畸形的死后诊断中,经过充分进行的产前 US 和死后 MRI 后,传统的仅限于胎儿心脏的尸检可能会替代全身尸检。

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