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Prenatal diagnosis of congenital megalourethra associated with VACTERL sequence in twin pregnancy: favorable postnatal outcome

Congenital megalourethra is a rare disorder, characterized by significant dilatation of the penile urethra. Obrinsky1 described the first case in 1949 and Benacerraf et al.2 described the first prenatal diagnosis of congenital megalourethra in 1989. To our knowledge, only 10 antenatally diagnosed cases have been published so far. We observed a case of prenatally diagnosed congenital megalourethra associated with a complete VACTERL sequence. The mother was 30 years old, gravida 2 para 3, with a spontaneous dichorionic diamniotic pregnancy. She had an unremarkable familial and medical history. At 20 weeks’ gestation she was referred to our fetal medicine center following the discovery of a bladder anomaly in the presenting twin (twin 1). The distended bladder was confirmed and was associated with a dilated anterior urethra (15 mm in diameter). The diagnosis of congenital megalourethra was eventually established. The urethral walls were thick and hyperechoic (Figure 1). Several other abnormalities were also noted: the right kidney could not be visualized and a vertebral angulation was diagnosed, suggesting the diagnosis of VACTERL sequence. The left kidney had a slightly dilated renal pelvis diameter (6 mm) and a parenchyma of normal echogenicity. The amniotic fluid volume was normal. No other investigations were performed. The pregnancy was followed by repeat ultrasound examinations to monitor fetal growth and renal dilatation; urethral dilatation never exceeded 18 mm in width. At 36 weeks