The BOR syndrome and renal agenesis-prenatal diagnosis andfurther clinical delineation

1988 ◽  
Vol 8 (2) ◽  
pp. 103-108 ◽  
Author(s):  
Cheryl R. Greenberg ◽  
Cynthia L. Trevenen ◽  
Jane A. Evans
2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Shoko Ikeda ◽  
Chika Akamatsu ◽  
Akifumi Ijuin ◽  
Ami Nagashima ◽  
Megumi Sasaki ◽  
...  

AbstractFraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.


1995 ◽  
Vol 173 (6) ◽  
pp. 1788-1792 ◽  
Author(s):  
Waldo Sepulveda ◽  
Konstantinos D Stagiannis ◽  
Nicola J Flack ◽  
Nicholas M Fisk

Author(s):  
K. De Cleyn ◽  
H. Degryse ◽  
T. Slangen ◽  
M.-Th. De Vree ◽  
Ph. Buytaert ◽  
...  

1994 ◽  
Vol 14 (11) ◽  
pp. 1090-1092 ◽  
Author(s):  
Jeffrey A. Kuller ◽  
Carol C. Coulson ◽  
M. Cathleen McCoy ◽  
Georgia C. Altman ◽  
John M. Thorp ◽  
...  

2018 ◽  
Vol 0 (42) ◽  
pp. 16-20
Author(s):  
Н. П. Веропотвелян ◽  
Г. В. Макух ◽  
Л. Б. Чорна ◽  
Т. А. Нетребко ◽  
Ю. С. Погуляй ◽  
...  

2020 ◽  
pp. 43-48
Author(s):  
A. N. Chukanov

Objective: to identify the most practical method for diagnosing bilateral renal agenesis in a fetus during prenatal ultrasound screening. Material and methods. The study included the results of ultrasound screening of 50 fetuses, which initially, were presumptively diagnosed with bilateral renal agenesis using the generally accepted method of ultrasound screening. The sonographic characteristics and visualization features of the structures of the urinary system of the fetuses were analyzed. Results. The sensitivity indices of the basic methods for diagnosing bilateral renal agenesis in a fetus (87.5 %), specificity (93 %) and general accuracy (92.2 %) have been determined; a method for prenatal diagnosis of bilateral renal agenesis in a fetus has been developed, which consists in assessing the possibility of ultrasound imaging of the fetal bladder after an administration of furosemide to the pregnant patient, which has increased the sensitivity and specificity of the method up to 100 %. Conclusion. The developed method of prenatal diagnosis of bilateral renal agenesis in a fetus, which consists in assessing the possibility of ultrasound imaging of the fetal urinary bladder after an administration of furosemide to the pregnant patient, improves the quality of the diagnosis of congenital malformations of the fetal kidneys and minimizes unreasonable psychoemotional stress in the pregnant patient resulting from the false positive diagnosis, which is a fundamental question for appropriateness of prolongation of her pregnancy.


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