Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography

2009 ◽  
Vol 29 (13) ◽  
pp. 1282-1284 ◽  
Author(s):  
Shunsuke Tamaru ◽  
Akihiko Kikuchi ◽  
Kimiyo Takagi ◽  
Masao Wakamatsu ◽  
Kyoko Ono ◽  
...  
2013 ◽  
Vol 42 (2) ◽  
pp. 161-168 ◽  
Author(s):  
G. Macé ◽  
P. Sonigo ◽  
V. Cormier-Daire ◽  
M.-C. Aubry ◽  
J. Martinovic ◽  
...  

2011 ◽  
Vol 225 (2) ◽  
pp. 85-87 ◽  
Author(s):  
Tetsuo Ono ◽  
Daisuke Katsura ◽  
Shunichiro Tsuji ◽  
Hiroko Yomo ◽  
Akiko Ishiko ◽  
...  

2020 ◽  
Vol 1 (7) ◽  
pp. 292-296
Author(s):  
Miyoko Waratani ◽  
Fumitake Ito ◽  
Yukiko Tanaka ◽  
Mabuchi Aki ◽  
Taisuke Mori ◽  
...  

Background: Fetal skeletal dysplasias are a group of skeletal dysplasias occurring during the fetal stage. As the use of fetal ultrasonography has become widespread, the rate of prenatal diagnosis of skeletal dysplasias has increased. However, many fetal skeletal dysplasia phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. Fetal imaging methods that are the basis of diagnosing fetal skeletal dysplasias include ultrasonography and three-dimensional computed tomography. The use of three-dimensional computed tomography requires specific imaging techniques and cannot easily be performed at all facilities. In the present study, we propose to conduct a survey for the preparation of a protocol with a low risk, and a high diagnostic accuracy. Methods: In total, 50 pregnant women who undergo three-dimensional computed tomography for the diagnosis of fetal skeletal dysplasias will be included. The primary outcome is prenatal diagnostic accuracy for fetuses with skeletal dysplasias. The secondary outcome is the safety from radiation exposure. Results and conclusion: Three-dimensional computed tomography should be considered for the prenatal diagnosis of fetal skeletal dysplasias, as it is important to judge whether the prognosis is favorable or lethal. When considering the risk of radiation exposure, high quality images that are adequate for a diagnosis have been obtained using low-dose three-dimensional computed tomography scans. This approach reduces the level of radiation to which the pregnant woman and fetus are exposed. Trial registration: University hospital Medical Information Network (UMIN) Center: Trial registration number is UMIN000034744. Data of registration is October 01, 2018. (URL: https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000039610).


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Miyoko Waratani ◽  
Fumitake Ito ◽  
Yukiko Tanaka ◽  
Aki Mabuchi ◽  
Taisuke Mori ◽  
...  

Abstract Background 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. Methods 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. Results 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. Conclusions 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. Trial registration University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered.


2001 ◽  
Vol 21 (1) ◽  
pp. 68-71 ◽  
Author(s):  
Yasuhiko Ebina ◽  
Hideto Yamada ◽  
Emi Hirayama Kato ◽  
Fumie Tanuma ◽  
Shigeki Shimada ◽  
...  

2020 ◽  
Author(s):  
Miyoko Waratani ◽  
Fumitake Ito ◽  
Yukiko Tanaka ◽  
Aki Mabuchi ◽  
Taisuke Mori ◽  
...  

Abstract Background: 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.Methods: 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.Results: 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.Conclusions: 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.Trial registration: University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=Roooo39610.


2010 ◽  
Vol 37 (2) ◽  
pp. 151-155 ◽  
Author(s):  
Takahiro Yamada ◽  
Gen Nishimura ◽  
Keiichiro Nishida ◽  
Hideaki Sawai ◽  
Tokuhiko Omatsu ◽  
...  

2020 ◽  
Author(s):  
Miyoko Waratani ◽  
Fumitake Ito ◽  
Yukiko Tanaka ◽  
Aki Mabuchi ◽  
Taisuke Mori ◽  
...  

Abstract Background 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. Methods On suspicion of FSD based on ultrasound examination, we performed 3D-CT prenatally to confirm this diagnosis. In order to minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition. Results Sixteen fetuses were suspected to have skeletal dysplasia based on ultrasonography findings. Of these, 15 were diagnosed with FSD using 3D-CT. All 15 fetuses diagnosed with skeletal dysplasia prenatally were confirmed postnatally to have the condition. The definitive postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. Fourteen cases (93.3%) were diagnosed by an accurate classification. 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. Conclusions 3D-CT is a valuable tool to augment ultrasound examination for the diagnosis of FSD because it can provide a more definitive diagnosis of the type of dysplasia, enabling better planning for resuscitation of the infant after birth. Trial registration: University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=Roooo39610.


2011 ◽  
Vol 24 (9) ◽  
pp. 1181-1184 ◽  
Author(s):  
Ryu Wada ◽  
Hideaki Sawai ◽  
Gen Nishimura ◽  
Kazutomo Isono ◽  
Kyoko Minagawa ◽  
...  

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