What is the diagnosis for a 29-year-old gravida 1 para 0 (G1P0) woman at 21 weeks gestation with oligohydramnios, breech presentation, tachycardia, hypoplastic lungs, and a distended bladder with enlarged kidneys and thin renal cortices?

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Differential Diagnosis for Fetal Anomaly

  • Single most likely diagnosis:
    • Posterior Urethral Valves (PUV) or other obstructive uropathy: This condition is characterized by the presence of a distended bladder, enlarged kidneys with thin renal cortices, and oligohydramnios due to decreased fetal urine production. The absence of pleural fluid and hypoplastic lungs also support this diagnosis, as decreased amniotic fluid can lead to pulmonary hypoplasia.
  • Other Likely diagnoses:
    • Renal agenesis or dysplasia with obstructive uropathy: This condition could also lead to decreased amniotic fluid and pulmonary hypoplasia, although the presence of enlarged kidneys with thin cortices makes PUV more likely.
    • Prune belly syndrome: This rare condition is characterized by the absence of abdominal muscles, undescended testes, and urinary tract anomalies, which could lead to a similar ultrasound appearance.
  • Do Not Miss diagnoses:
    • Bilateral multicystic dysplastic kidneys: Although less likely, this condition could lead to similar ultrasound findings and has significant implications for fetal and neonatal management.
    • Chromosomal abnormalities (e.g., trisomy 13 or 18): These conditions can be associated with renal anomalies, growth restriction, and other congenital malformations, and would have significant implications for pregnancy management and prognosis.
  • Rare diagnoses:
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: This rare condition is characterized by a massively dilated bladder and intestinal dysmotility, and could lead to similar ultrasound findings.
    • Autosomal recessive polycystic kidney disease (ARPKD): This condition is characterized by cystic dilation of the renal collecting ducts and could lead to enlarged kidneys with thin cortices, although it is less likely given the presence of a distended bladder.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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