First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association.
Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.
Krapp
Martin
M
Division of Prenatal Medicine, Department of Obstetrics and Gynecology, Medical University of Lübeck, Germany. DrMartinKrapp@web.de
Geipel
Annegret
A
Germer
Ute
U
Krokowski
Manuela
M
Gembruch
Ulrich
U
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D000025:Abortion, Eugenic; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016135:Spinal Dysraphism; D014138:Tracheoesophageal Fistula / Q000151:congenital; D016216:Ultrasonography, Prenatal; D014521:Urethra / Q000002:abnormalities* / Q000000981:diagnostic imaging