Introduction

Potter syndrome is a rare but serious birth condition that affects babies during fetal development. It occurs when the fetus’s kidneys do not develop properly, causing low amniotic fluid in the uterus. This leads to physical changes in the baby’s appearance and severe lung problems (e.g. pulmonary hypoplasia), resulting in abnormally small lungs and difficulties breathing post-delivery. Due to these complications, babies with this condition often do not survive long after birth.¹

This article will explore the key challenges in monitoring and delivering babies affected by Potter syndrome, providing clear guidance to help readers better understand this complex condition.

Causes and development of Potter’s syndrome

Potter syndrome is caused by improper development of the kidneys, leading to bilateral renal agenesis, a birth defect occurring when one or more of the kidneys do not form. This defect is the most common cause of oligohydramnios, a condition characterised by a low amount of amniotic fluid  (the protective fluid that surrounds the baby in the uterus).

Normally, the baby produces urine, which helps create the amniotic fluid. However, when the kidneys are not working properly, the baby can not produce enough urine. As a result, amniotic fluid volume decreases, leading to oligohydramnios.¹

This lack of fluid limits fetal movement in the womb, causing physical deformities, such as pulmonary hypoplasia.  Without enough amniotic fluid, the baby’s lungs can not develop properly. For the lungs to grow, they need enough space to expand, and they also rely on the amniotic fluid to help them develop. When there is insufficient fluid, the baby’s chest can not expand fully, leading to severe lung problems.¹

Other factors – such as blocked urine flow, polycystic kidney disease, kidney underdevelopment, or the premature rupture of the membranes (the breaking of the water before labour begins) – may also predispose the development of Potter syndrome. There are four types of this condition, with the autosomal dominant form (e.g., Potter type III) being the most severe.¹

How babies with Potter syndrome look

Babies with Potter syndrome are born with a distinct set of physical features, such as changes in face shape, problems with the legs or feet, and issues with the genitals.¹

A specific set of facial features, known as "Potter facies", may include folds of skin at the inner corners of the eyes, ears that are lower than usual, a flat-looking nose (due to pressure in the womb), and a small lower jaw.¹

Other common problems may include:

• Legs or feet that are twisted or out of place (e.g., clubfoot)
• Legs with different lengths
• Dislocated hips (the leg bone is not properly positioned in the hip)
• Missing anal opening
• Abnormal development of bones in the spine
• Missing part of the lower spine (sacral agenesis)
  

Babies with Potter syndrome may also develop abnormally small lungs, causing breathing problems. The severity of the lung problem varies based on how early it starts, how long it lasts, and how little amniotic fluid is present during pregnancy.¹

Challenges in Potter syndrome

Diagnosis

Ultrasound—either abdominal or transvaginal—is the main diagnostic tool. The absence of kidneys and bladder strongly suggests bilateral renal agenesis, although adrenal glands may mimic kidneys on scans and complicate diagnosis.²

Electrolyte imbalances

Infants with renal agenesis may develop:¹

• Hyperkalemia (high potassium)
• Hypocalcemia (low calcium)
• Hypernatremia (high sodium)
• Hyponatremia (low sodium)

These abnormalities add to the complexity of neonatal management after birth.

Pulmonary complications

Monitoring fetal lung development is challenging, as pulmonary hypoplasia is a central cause of morbidity and mortality in Potter syndrome.

Challenges in delivering Potter syndrome babies

Some of the challenges faced in delivering Potter syndrome babies include:

• Fetal distress: Babies with Potter’s syndrome are usually small in size. As a result, they tend to lie in an abnormal position in the wound, making vaginal delivery difficult. Due to their size, babies with Potter’s syndrome are prone to cord prolapse, an obstetric emergency characterised by the exit of the umbilical cord from the cervix prior to the baby’s presenting part³
• Prematurity: Potter syndrome babies are mostly born premature. The survival of the baby is not guaranteed³
• Life expectancy: Most Potter syndrome babies die within 28 hours after birth. This can be depressing to the parents of the child. Babies with Potter’s syndrome tend to die in the uterus before delivery³
• Mode of delivery: Due to the difficulties in delivering Potter syndrome babies, they are typically born through C-section³

Summary

Potter syndrome is a life-threatening condition caused by abnormal kidney development leading to severe oligohydramnios. The lack of amniotic fluid results in pulmonary hypoplasia and characteristic physical deformities. Ultrasound is the primary diagnostic method, though interpretation can be challenging. Babies are often small, premature, and at high risk of complications such as cord prolapse and respiratory failure. Most infants do not survive long after birth due to severely underdeveloped lungs. Delivery is clinically complex and typically requires a C-section. The condition presents significant emotional and medical challenges for families and healthcare teams.