Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.
Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.
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DOI：
10.1186/s12891-020-03663-x
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发表时间：
2020-10-08
影响因子：
2.3
通讯作者：
Kitawaki J
中科院分区：
文献类型：
--
作者：
Waratani M;Ito F;Tanaka Y;Mabuchi A;Mori T;Kitawaki J
胎儿骨骼发育不良 (FSD) 包括一组复杂的全身性骨和软骨疾病。许多 FSD 表型的定义不明确，使得明确的产前诊断变得困难。这种情况通常通过超声检查来诊断。然而，三维计算机断层扫描 (3D-CT) 也有助于产前诊断。本研究旨在通过比较胎儿超声检查和3D-CT的诊断准确性，探讨3D-CT在FSD产前诊断中的效果。根据超声检查怀疑患有 FSD，我们在产前进行了 3D-CT，以获得 FSD 的详细骨骼信息。为了在不影响图像质量的情况下最大限度地减少胎儿的辐射暴露，我们使用预定的 3D-CT 设置进行体积采集。根据超声检查结果，十九名胎儿被怀疑患有骨骼发育不良。其中 17 人通过 3D-CT 诊断为 FSD。所有 17 名产前诊断为 FSD 的胎儿均在产后确诊患有该病。只有一名婴儿的产后诊断（营盘发育不良）与产前诊断（成骨不全）不同。产前和产后均诊断出 FSD 的病例有 16 例（94.1%）。五名婴儿患有致命的骨骼发育不良；一名在子宫内死亡，四名在新生儿时死亡。我们根据产前诊断为每个婴儿确定合适的分娩方式。 3D-CT 是增强超声检查诊断 FSD 的重要工具。虽然改进超声检查诊断工具对于疑似 FSD 病例至关重要，但 3D-CT 成像对于诊断和分类也是必不可少的，可以更好地规划婴儿出生后的复苏。大学医院医学信息网络（UMIN）中心试验注册号为UMIN000034744。 2018 年 10 月 1 日注册 – 追溯注册。
Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis. This study aimed to examine the efficacy of 3D-CT in the prenatal diagnosis of FSD by comparing the diagnostic accuracy of fetal sonography and 3D-CT. On suspicion of FSD based on ultrasound examination, we performed 3D-CT prenatally to obtain detailed skeletal information on FSD. To minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition. Nineteen fetuses were suspected of having skeletal dysplasia based on ultrasonography findings. Of these, 17 were diagnosed with FSD using 3D-CT. All 17 fetuses diagnosed with FSD prenatally were confirmed postnatally to have the condition. The postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. Sixteen cases (94.1%) were diagnosed both prenatally and postnatally with FSD. Five infants had lethal skeletal dysplasia; one died in utero, and four died as neonates. We determined the appropriate delivery method for each infant based on the prenatal diagnosis. 3D-CT is a valuable tool for augmenting ultrasound examinations in the diagnosis of FSD. While improving the diagnostic tool of sonography is essential in cases of suspected FSD, 3D-CT imaging is indispensable for diagnosis and classification, enabling better planning for resuscitation of the infant after birth. University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered.
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影响因子：
2
作者：
Van Dijk, F. S.;Sillence, D. O.
通讯作者：
Sillence, D. O.
影响因子：
7.1
作者：
Mathiesen, J. M.;Aksglaede, L.;Tabor, A.
通讯作者：
Tabor, A.
影响因子：
7.1
作者：
Ruano, R;Molho, M;Ville, Y
通讯作者：
Ville, Y
影响因子：
7.1
作者：
Cassart, M.;Massez, A.;Avni, F.
通讯作者：
Avni, F.
影响因子：
1.3
作者：
Kaga, Akimune;Murotsuki, Jun;Fujiwara, Ikuma
通讯作者：
Fujiwara, Ikuma