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2013-06-01-10 Answer to the case of the week #352 © Juhas 

Answer to the case of the week #352

August 29, 2013 - September 12, 2013 

Martin Juhás, MD; Jozef Janovský, MD.

Centrum fetalnej a gynekologickej diagnostiky, JUHAMED s.r.o., Myslavska 644/160/A, 040 16 Kosice, Slovak Republic.

Case report

A 26-year-old woman (G1P0) was referred to our unit at 16 weeks of gestation because of a cystic structure of the umbilical cord. Family and personal history were non-contributive. First trimester ultrasound was reported to be normal and so was the biochemical triple test at the beginning of the 16th week. The course of the pregnancy was uneventful. Our ultrasound examination revealed following findings:

Absence of urinary bladder in its normal location;
Lower abdominal wall defect with protruding cystic mass;
Low insertion of multicystic umbilical cord;
Power and color doppler showed narrow umbilical arteries alongside the cystic mass;
Abnormal male genitalia with suspected epispadia;
Radial deviation of the hands and club feet.

Genetic consultation and amniocentesis were refused by the patient. The pregnancy had ended by spontaneous abortion at 20th week and a musculocutaneus sample of the fetus was sent to genetic laboratory, where normal male karyotype was confirmed. Autopsy of the fetus confirmed bladder exstrophy with multicystic umbilical cord malformation and epispadia.

Images 1, 2, 3, 4, and video 1: The images and video show a large anechoic structure in front of the fetal lower abdomen representing urinary bladder exstrophy.



Images 5, 6: The images show umbilical arteries going along a cystic structure in front of the fetal pelvis representing the urinary bladder exstrophy.


Images 7, 8
: The image 7 shows oblique parasagittal scan of the fetus with cystic structure in front of the pelvis representing extrophy of the urinary bladder. One of the umbilical arteries (blue flow) is seen directing towards the cystic structure. The image 8 shows transverse scan of the fetal pelvis with normal location of umbilical arteries (red flows) but absence of the urinary bladder within this region.
Images 9, 10, 11, 12, 13, and 14: The images show 2D (Images 9-12) and 3D (Images 13, 14) images of abnormal male genitalia (arrows) of the fetus with suspected epispadia. 



Images 15, 16, and 17: 3D images showing the fetus with radial deviation of the hands (Images 15, 16), clubfoot (Image 17) and bladder extrophy - cystic structure in front of the fetal pelvis (Images 15, 16).  


Images 18, 19: Post-mortem images of the fetus with the urinary bladder exstrophy in association with multicystic umbilical cord and club feet.


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