First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association

Prenat Diagn. 2002 May;22(5):422-4. doi: 10.1002/pd.328.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / pathology
  • Abortion, Eugenic
  • Adult
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / pathology
  • Fingers / abnormalities
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Trimester, First
  • Spinal Dysraphism
  • Tracheoesophageal Fistula / congenital
  • Ultrasonography, Prenatal*
  • Urethra / abnormalities*
  • Urethra / diagnostic imaging