Potter’s Syndrome, also known as Potter sequence, is a rare condition that affects how a fetus develops. This disorder is characterized by abnormal kidney development, which leads to an insufficient amount of amniotic fluid (oligohydramnios). This reduction in fluid triggers a series of other physical abnormalities in the developing fetus.
Underlying Causes
The primary cause of Potter’s Syndrome is often bilateral renal agenesis, meaning both kidneys are either completely absent or severely malformed. Kidneys produce fetal urine, the main component of amniotic fluid from the second trimester onward. When kidney development is impaired, there is a significant reduction or absence of fetal urine production, leading to oligohydramnios.
Amniotic fluid plays a role in the proper development of fetal lungs. Without sufficient fluid, the lungs cannot develop fully, resulting in pulmonary hypoplasia. While bilateral renal agenesis is a common cause, other conditions can also lead to oligohydramnios and subsequently, Potter’s Syndrome. These include severe renal dysplasia, polycystic kidney disease, obstructive uropathy, or premature rupture of membranes. Genetic factors can also contribute to abnormal kidney development, with some cases showing autosomal dominant, autosomal recessive, or sporadic inheritance patterns.
Physical Manifestations
The lack of amniotic fluid in Potter’s Syndrome leads to characteristic physical features and complications. Reduced fluid volume limits fetal movement, resulting in limb deformities such as club feet or bowed legs. Constant uterine wall pressure molds developing facial features, leading to “Potter facies.” These facial characteristics often include:
A flattened nose
Prominent epicanthal folds
Low-set ears that may lack cartilage
A receding chin
A significant complication is pulmonary hypoplasia. The lack of amniotic fluid prevents normal lung expansion and maturation, essential for breathing after birth. Infants with severely underdeveloped lungs experience respiratory distress shortly after birth. Other associated abnormalities can include:
Congenital heart defects
Pancreatic cysts
Esophageal atresia
Various gastrointestinal anomalies
Diagnosis
Potter’s Syndrome can be identified prenatally and postnatally. Prenatal diagnosis relies on ultrasound imaging, detecting the absence or severe abnormality of fetal kidneys and oligohydramnios. Diagnosis is often made during the second trimester, around 14 weeks, when fetal urine production becomes a significant contributor to amniotic fluid volume.
Postnatal diagnosis is confirmed by physical examination of the newborn, looking for characteristic facial features and limb deformities. The absence of urine output within the first 48 hours after birth is a strong indicator of kidney malformation or blockage. Further confirmation may involve imaging studies like X-rays of the abdomen and lungs to assess kidney and lung development. Laboratory tests, such as serum electrolyte and creatinine levels, also provide information about kidney function.
Prognosis and Support
The prognosis for infants with Potter’s Syndrome is often severe, primarily due to underdeveloped lungs. Most affected infants, particularly those with bilateral renal agenesis, survive only hours to a few days after birth, with respiratory failure as the usual cause of death. The severity of pulmonary hypoplasia directly influences survival.
If some kidney function is present or oligohydramnios is less severe, infants may survive longer, though they often face chronic lung and kidney conditions. Medical management focuses on supportive care, including mechanical ventilation for respiratory support and, in some instances, temporary dialysis for kidney support. Even with these interventions, the outcome remains poor for many. Families facing this diagnosis receive comprehensive counseling, covering prognosis and discussing care options, often centering on palliative measures for infant comfort. A multidisciplinary team, including neonatologists, nephrologists, and geneticists, provides guidance and support to families.