Miyoko Waratani*, Fumitake Ito, Yukiko Tanaka, Mabuchi Aki, Taisuke Mori and Jo Kitawaki
Volume1-Issue7
Dates: Received: 2020-10-27 | Accepted: 2020-11-03 | Published: 2020-11-04
Pages: 292-296
Abstract
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)
FullText HTML
FullText PDF
DOI: 10.37871/jbres1156
Certificate of Publication
Copyright
© 2020 Waratani M, et al. Distributed under Creative Commons CC-BY 4.0 
How to cite this article
Waratani M, Ito F, Tanaka Y, Aki M, Mori T, Kitawaki J. Diagnosing Fetal Skeletal Dysplasia Using Three-Dimensional Computed Tomography: A Study Protocol for an Interventional Study. J Biomed Res Environ Sci. 2020 Nov 04; 1(7): 292-296. doi: 10.37871/jbres1156, Article ID: jbres1156
Subject area(s)
References
- Chen C, Jiang Y, Xu C, Liu X, Hu L, Xiang Y, Chen Q, Chen D, Li H, Xu X, Tang S. Skeleton Genetics: A comprehensive database for genes and mutations related to genetic skeletal disorders. Database (Oxford). 2016 Aug 31;2016:baw127. doi: 10.1093/database/baw127. PMID: 27580923; PMCID: PMC5006089.
- Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. PMID: 26394607.
- Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol. 2004 Aug;24(2):134-40. doi: 10.1002/uog.1113. PMID: 15287049.
- Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb. PMID: 19265753; PMCID: PMC2832320.
- Macé G, Sonigo P, Cormier-Daire V, Aubry MC, Martinovic J, Elie C, GONZALES M, CARBONNE B, DUMEZ Y, LE MERRER M, BRUNELLE F. and BENACHI A. Three-dimensional helical computed tomography in prenatal diagnosis of fetal dysplasia. Ultrasound Obstet Gyn ecol. 2013 Jul;42: 161-168. doi:10.1002/uog.12298.
- Sohda S, Hamada H, Oki A, Iwasaki M, Kubo T. Diagnosis of fetal anomalies by three-dimensional imaging using helical computed tomography. Prenat Diagn. 1999 Apr;17:670-674. doi:10.1002/(SICI)1097-0223(199707)17:7<670::AID-PD113>3.0.CO;2-8.
- Cassart M. Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 2010 Jun;40(6):1046-51. doi: 10.1007/s00247-010-1598-6. Epub 2010 Apr 30. PMID: 20432024.
- Guilbaud L, Beghin D, Dhombres F, Blondiaux E, Friszer S, Ducou Le Pointe H, Éléfant E, Jouannic JM. Pregnancy outcome after first trimester exposure to ionizing radiations. Eur J Obstet Gynecol Reprod Biol. 2019 Jan;232:18-21. doi: 10.1016/j.ejogrb.2018.11.001. Epub 2018 Nov 5. PMID: 30453167.
- Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1. PMID: 26426884; PMCID: PMC4818203.
