Potter disease, more accurately described as Potter sequence or phenotype, refers to a set of physical characteristics seen in newborns resulting from prolonged and severe oligohydramnios (a deficiency of amniotic fluid) during pregnancy. The most recognizable aspect is a typical facial appearance.
Understanding Potter Sequence
The Potter sequence isn't a disease itself but rather a cascade of events initiated by oligohydramnios. The lack of amniotic fluid, which usually cushions the fetus in the uterus, leads to various complications. The original question is therefore more accurately understood when referring to "Potter sequence" or "Potter phenotype".
Key Features of Potter Sequence
- Oligohydramnios: This is the primary cause. Reduced or absent amniotic fluid is the initiating factor.
- Potter Facies: This distinctive facial appearance results from the compression of the fetal face in utero due to the lack of cushioning amniotic fluid. It is characterized by:
- Flattened nose
- Recessed chin
- Low-set ears
- Prominent epicanthic folds (skin folds of the upper eyelid covering the inner corner of the eye)
- Limb Deformities: Compression can also lead to limb deformities.
- Pulmonary Hypoplasia: This is the most severe consequence. Insufficient amniotic fluid impairs lung development, leading to underdeveloped lungs. This is often the cause of death in newborns with Potter sequence.
Causes of Oligohydramnios leading to Potter Sequence
Several conditions can cause oligohydramnios and subsequently Potter sequence:
- Kidney Problems: Renal agenesis (failure of kidneys to develop) or other kidney malformations preventing urine production (which contributes significantly to amniotic fluid volume).
- Urinary Tract Obstructions: Blockages preventing urine from entering the amniotic sac.
- Placental Problems: Issues with the placenta that reduce amniotic fluid production.
- Premature Rupture of Membranes (PROM): Leakage of amniotic fluid.
Diagnosis
Diagnosis is usually suspected during prenatal ultrasound, which reveals oligohydramnios. The Potter facies might also be visible on ultrasound.
Prognosis
The prognosis is generally poor, primarily due to pulmonary hypoplasia. Babies with Potter sequence often die shortly after birth.
