2013-06-01-10 Answer to the case of the week #352 © Juhas
www.TheFetus.net
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.