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Clubfoot
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Duodenal atresia
Esophageal fistula
Posterior urethral valves
Spina bifida
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This fetus that presents with large, cyst-filled kidneys, pulmonary hypoplasia, and decreased amniotic fluid levels most likely has Potter sequence secondary to autosomal recessive polycystic kidney disease. Another component of this sequence are packaging abnormalities (compression due to lack of space) such as clubfoot. Autosomal recessive polycystic kidney disease is a congenital fibrocystic disorder that results in renal and hepatic abnormalities. It is caused by a defect in the expression of the PKHD1 gene, which leads to abnormal production of fibrocystin and polyductin. Patients will present with dilatation and elongation of the collecting ducts that can be seen as cystic enlargement of the kidneys on the fetal anatomy ultrasound. The abnormal kidney function will also result in decreased levels of amniotic fluid (oligohydramnios), which is associated with Potter sequence. This may present with pulmonary hypoplasia, compressed facies, clubfoot, low set ears, and a small chin. Serra et al. present a case of a patient with autosomal recessive polycystic kidney disease who experienced Potter sequence in utero and died shortly after birth due to pulmonary failure. Incorrect Answers: Answer 2: Duodenal atresia is caused by a recanalization defect in the small intestines that may also be seen prenatally; however, this condition would present with polyhydramnios rather than oligohydramnios. The pathophysiology of polyhydramnios in this condition is that the fetus is not able to swallow excess amniotic fluid. Answer 3: Esophageal fistula is caused by an abnormal linkage with the trachea that usually is not diagnosed until after birth, when feeding results in cyanosis and choking. Answer 4: Posterior urethral valves may also present with oligohydramnios and Potter sequence; however, these patients would not have large cystic masses in the kidneys. Answer 5: Spina bifida is caused by a defect in the posterior laminar tissues of the spine. These patients will present with polyhydramnios rather than oligohydramnios. The pathophysiology of polyhydramnios in this condition is that fluid escapes from the open neural tube. This is associated with folate deficiency. Bullet Summary: Autosomal recessive polycystic kidney disease will present with large cyst-filled kidneys and oligohydramnios resulting in the Potter sequence.
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