Abstract
A 19-year-old G3P1AB1 Caucasian female was referred to us at 14 weeks gestation for oligohydramnios and fetal megacytis. Transabdommal CVS was performed at 15 weeks for rapid chromosomes. Chromosome results were completed two days later, revealing a 46, XY normal male karyotype. A 16-week ultrasound demonstrated anhydramnios, an enlarged fetal bladder and a large amount of fetal ascites. A vesicoamniotic shunt was placed at 16 weeks gestation, and a second shunt was placed at 17 weeks gestation after severe oligohydramnios, megacytis, and fetal ascitis was again noted on ultrasound. A third shunt was placed two days later when the second shunt was presumably not functioning. Follow-up ultrasounds were performed every 3-4 days for the following three weeks, and then monthly to monitor fetal bladder dilation and amniotic fluid volume. Bladder size was consistently mildly enlarged, and amniotic fluid volume was mildly decreased. A lung maturity amniocentesis was performed at 35.8 weeks gestation when oligohydramnios was present. Labor was induced the same day. The patient delivered a male infant with APGAR's of 7 and 9. The infant was transferred to the NICU for close observation. Neither the patient nor the infant exhibited any complications following delivery. The infant boy was subsequently diagnosed with Prune-Belly syndrome, which consists of a triad of anomalies: deficient abdominal wall musculature, urinary tract dilatation, and cryptorchidism. There are two opposing theories regarding the pathogenesis of Prune-Belly syndrome. The first is that the primary defect is a urethral obstruction, causing distention of the bladder, which prevents access of the testes to the inguinal canal, and leads to abdominal distention and subsequent degeneration of the abdominal muscles. The second theory is that the primary defect is in the distribution or quality of the mesoderm, resulting from an insult to the embryonic mesoderm which affects the developing urinary tract, renal and prostatic primordia, and the muscles of the abdominal wall. According to this theory, a urinary tract obstruction could occur as a result of this early defect in the mesoderm. Out case supports the latter theory given the fact that the bladder was only minimally enlarged throughout gestation, and therefore would not appear to explain the clinical presentation of prune belly sequence in our patient.
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Brewer, R., Menzel, M. & Sumners, J. Prune belly syndrome in a patient with only a mildly distended bladder. Genet Med 2, 108 (2000). https://doi.org/10.1097/00125817-200001000-00210
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DOI: https://doi.org/10.1097/00125817-200001000-00210