Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography

2004 ◽  
Vol 24 (2) ◽  
pp. 134-140 ◽  
Author(s):  
R. Ruano ◽  
M. Molho ◽  
J. Roume ◽  
Y. Ville
2000 ◽  
Vol 20 (5) ◽  
pp. 400-403 ◽  
Author(s):  
Tsung-Hsuan Lai ◽  
Chiung-Hsin Chang ◽  
Chen-Hsiang Yu ◽  
Pao-Lin Kuo ◽  
Fong-Ming Chang

Author(s):  
Sebahat Atar Gürel

<p>Hypospadias is an anomaly of the male urogenital tract which occurs as a result of deficient closure of the urethral groove. Hypospadias is the most commonly seen urogenital anomaly in male neonates, but it is rarely diagnosed during prenatal period. Herein, a severe hypospadias case which was diagnosed by using 2D (two-dimensional) and 3D (three-dimensional) ultrasonography at 28 weeks of pregnancy with the aid of “tulip sign” finding was presented. 2D ultrasonography of 29 year old, primigravid woman at 28 weeks of gestation revealed an incurved, short penis with blunt tip located between the two scrotal folds and there was no additional anomaly. Findings were compatible with the “tulip sign” and case was diagnosed as isolated hypospadias. Isolated hypospadias was confirmed after delivery and surgical correction was planned. Prenatal diagnosis of hypospadias and relevant literature has been reviewed.</p>


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).


2011 ◽  
Vol 29 (3) ◽  
pp. 238-247 ◽  
Author(s):  
Marina Ulla ◽  
Horacio Aiello ◽  
María Paz Cobos ◽  
Iêda Orioli ◽  
Ricardo García-Mónaco ◽  
...  

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Daniela Cardoso Pereira ◽  
Luiz Claudio Silva Bussamra ◽  
Edward Araujo Júnior ◽  
Carolina Leite Drummond ◽  
Luciano Marcondes Machado Nardozza ◽  
...  

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.


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