The antenatal diagnosis of Potter syndrome (Potter sequence). A lethal and not-so-rare malformation

Abstract Bilateral renal agenesis (BRA) or Potter syndrome is a relatively rare congenital defect in which agenesis of the kidneys is associated with oligohydramnios, pulmonary hypoplasia, characteristic facial features and other abnormalities. The etiology is unknown. While the possibility of autosomal recessive inheritance has been suggested in familial cases, the syndrome most probably develops as a pattern of multiple anomalies derived from one single, mechanical factor. The initiating event of this syndrome is oligohydramnios. This condition in the neonate is incompatible with life. Unfortunately, these infants are often delivered by caesarean section, as it is usually associated with premature delivery, and breech presentation is a frequent finding. Consequently the prenatal diagnosis of BRA is important in order to avoid unnecessary operations. The antepartum diagnosis is possible in most cases by means of ultrasound scanning, and should be made in the second trimester, when therapeutic abortion is still possible. We have reviewed the obstetric course of 10 women who delivered such babies in recent years in our department. In 4 out of 6 cases of premature labor and breech presentation the diagnosis was made predelivery, and caesarean section was avoided.