Mom, low amniotic fluid (oligohydramnios) can cause Potter syndrome in babies . This condition is indeed rare, aka very rarely found. However, by knowing the definition, causes, and symptoms, Mom can prevent this condition in your little one.
Potter syndrome that is not treated immediately can affect the growth and function of the baby’s kidneys and other internal organs. This condition can even be life-threatening for the baby and many babies have a shorter life expectancy because of this disease.
For that, see the following information about Potter syndrome.
What is Potter Syndrome?
Potter syndrome, also known aspotter sequence, is a rare condition that affects the development of a fetus in the womb. It is the result of abnormal growth and kidney function, which affects how much amniotic fluid surrounds the baby during pregnancy.
Insufficient amniotic fluid during pregnancy is called oligohydramnios , while the absence of amniotic fluid is called anhydramnios. Amniotic fluid supports and protects the developing fetus.
When there is too little amniotic fluid, the normal pressure exerted on the fetus during pregnancy can cause certain physical characteristics such as distinctive facial features or bone abnormalities. When oligo-anhydramnios is present early in pregnancy, the lungs will also be underdeveloped (pulmonary hypoplasia), which can cause severe breathing difficulties.
Most often, this condition is caused by the absence of both kidneys (bilateral renal agenesis) or sometimes referred to as classic Potter syndrome.
Potter syndrome can also occur due to other conditions, including polycystic kidney disease, malformed (dysplastic) or underdeveloped (hypoplastic) kidneys, and obstructive uropathy, in which urine cannot be drained from the bladder and builds up in the kidneys.
Potter syndrome is a very serious condition and is often fatal at or shortly after birth, mainly due to pulmonary hypoplasia.
Symptom
Potter syndrome symptoms can affect each newborn differently and vary in severity. Symptoms can also affect the timing of your pregnancy, which can lead to premature birth .
1. Lack of Amniotic Fluid
During pregnancy, a clear to yellow fluid (amniotic fluid) surrounds the fetus. This fluid provides protection and space for the fetus to grow by creating a barrier between the uterine wall and the fetus.
A fetus with Potter syndrome does not have enough amniotic fluid around it so pressure from the uterine wall affects the fetus’ growth.
2. Facial and Physical Characteristics
Pressure from a lack of amniotic fluid can affect how the fetus’ body parts develop. This results in distinct facial characteristics, called “Potter’s Facies,” including:
- The chin does not grow forward (recessed chin).
- The fold under the lower lip.
- The distance between the eyes is far apart.
- Flat bridge of nose.
- Low-set ears with little cartilage.
- Skin folds at the corners of the eyes.
Pressure can also affect the growth of other parts of the fetus including:
- Short arms and legs.
- Contracture or difficulty fully extending a joint.
- Small for gestational age.
3. Organs are underdeveloped or malformed
Symptoms affecting the baby’s organs can be life-threatening. Because Potter syndrome affects fetal development so much, internal organs do not have time to fully form. Symptoms of Potter syndrome affecting organs include:
- History of congenital heart disease .
- Eye problems (cataracts, displaced lens).
- Kidney conditions (chronic renal failure, agenesis, polycystic kidney disease).
- Lung conditions (chronic lung disease, respiratory disorders).
Abnormal kidney development can affect how much urine a newborn can produce. This is a symptom that a doctor or healthcare provider looks for to diagnose Potter syndrome.
Reason
Some factors that can cause Potter syndrome include:
- Underdeveloped or missing kidneys.
- Polycystic kidney disease.
- Pinch belly syndrome (eagle-barrett syndrome).
- Urinary tract obstruction.
- Leakage of amniotic fluid caused by the water breaking.
- Unmanaged medical conditions in pregnancy, such as type 1 diabetes.
Symptoms affecting the kidneys are a result of too little amniotic fluid surrounding the baby in the womb.
Causes of Too Little Amniotic Fluid
Abnormal kidney development causes too little amniotic fluid in the uterus.
During pregnancy, the baby floats in a clear to yellow fluid called amniotic fluid. This fluid protects the baby during pregnancy and allows it to grow.
Early in pregnancy, amniotic fluid is made up of water and nutrients from the mother’s body. The baby drinks amniotic fluid throughout the pregnancy. Between 16 and 20 weeks of pregnancy, the baby contributes to the amniotic fluid by urinating. The baby recycles the fluid by drinking it and releasing it.
If a baby has Potter syndrome, the part of their body that produces urine, the kidneys, are underdeveloped, absent or non-functioning. Because the baby cannot urinate, they cannot contribute to the amount of amniotic fluid that protects them, resulting in too little amniotic fluid in the womb.
Types of Potter Syndrome
Doctors identify different types of Potter syndrome based on symptoms affecting the kidneys including:
- Classic Potter Syndrome : Classic Potter syndrome is the most common and results from a baby being born without both kidneys.
- Potter Syndrome Type I : Type I symptoms occur due to polycystic kidney disease, where cysts form in the kidneys, which is caused by a trait inherited from both parents (autosomal recessive).
- Potter Syndrome Type II : Type II symptoms are the result of abnormal kidney growth that occurs in the womb during pregnancy.
- Potter Syndrome Type III : Type III symptoms occur due to polycystic kidney disease similar to type I, but are caused by a trait inherited from only one parent (autosomal dominant).
- Potter Syndrome Type IV : Type IV symptoms are the result of urinary tract obstruction caused by abnormal fetal development in the womb (obstructive uropathy).
Frequency of Occurrence
Potter syndrome is a rare disorder, and the exact incidence or prevalence is unknown. The primary cause of the condition, bilateral renal agenesis, occurs in about 1 in 5,000 fetuses and accounts for about 20% of Potter syndrome cases.
The incidence or prevalence of other causes is unknown. Overall, estimates of the incidence or prevalence of Potter syndrome range from 1 in 4,000 to 10,000 births.
Several studies have shown that newborn boys are more frequently affected than newborn girls, possibly due to obstructive uropathy being seen more frequently in boys.
Risk Factors
The risk factors for Potter syndrome are as follows:
- Bilateral Renal Agenesis (BRA), or pressure in the uterus due to oligohydramnios.
- Infantile polycystic kidney disease (dominant or recessive).
- Posterior urethral valve.
- Prolonged rupture of membranes.
Diagnosis
Potter syndrome can be diagnosed during pregnancy with a prenatal exam. Signs of the condition during pregnancy include a lack of amniotic fluid around the fetus, which your doctor will look for during an ultrasound, along with contractures or physical symptoms of the condition.
If a diagnosis is not made before the baby is born, the doctor will perform a physical examination on the baby, looking for symptoms of the condition including:
- Minimal urine production
- Facial characteristics
- Difficulty breathing
What tests diagnose Potter syndrome?
The doctor will offer several tests to confirm the diagnosis, including:
- Genetic blood tests to identify the genes responsible for symptoms.
- X-ray, MRI or ultrasound of the baby’s lungs, kidneys and urinary tract.
- Blood or urine tests to check electrolyte and enzyme levels.
- Echocardiogram to look for heart symptoms.
Treatment
Treatment or cure for Potter syndrome depends on the severity of the lung and heart complications (pulmonary hypoplasia) associated with the condition affecting the baby. It also depends on the options available to support the baby’s kidney (renal) function.
The growing fetus needs to be surrounded by enough amniotic fluid for lung development during pregnancy. If the baby’s chest is confined for a long period of fetal development, there may not be enough lung tissue to sustain life after birth.
Renal insufficiency is also very challenging to treat in newborns. In some cases, neonatal palliative care measures that limit intensive care interventions and instead focus on the goals of infant-parent bonding and infant comfort are the treatment.
If the baby survives birth, treatment focuses on preventing life-threatening symptoms which may include:
- Using a breathing aid (ventilator).
- Supportive medications to help lung function.
- Surgery to repair or remove urinary tract obstruction.
- Surgery to improve feeding with IV nutritional therapy, nasogastric tube or feeding tube.
- Dialysis to remove toxins from the blood from kidney disease. If dialysis doesn’t work after several years of treatment, your provider may recommend a kidney transplant.
Depending on the timeline of your baby’s diagnosis, treatment can begin during pregnancy. You may be eligible for trials such as amnioinfusion to add fluid to the amniotic cavity to make up for the lack of fluid around the fetus. This type of treatment works best before 22 weeks of pregnancy.
Possible Complications
Renal insufficiency is the major complication of potter syndrome. Major electrolyte imbalances such as hyponatremia, hypernatremia, hyperkalemia, hypocalcemia, and hyperphosphatemia are caused by renal failure.
Most cases of Potter syndrome are associated with pulmonary hypoplasia. This ultimately leads to pulmonary insufficiency and respiratory distress syndrome.
In addition, deformity of physical structures is a prominent characteristic associated with Potter syndrome. Insufficient amniotic fluid for fetal movement and proper development of body parts, as well as compression of the fetus by the uterus, cause facial and limb deformities.
Genital abnormalities are present in up to 70% of cases. Other congenital heart defects, pancreatic cysts, esophageal atresia, duodenal abnormalities, colonic agenesis, Meckel’s diverticulum may be present.
Prevention
A study of antenatal ultrasound screening in 12 European countries has shown that a large number of renal tract abnormalities can be detected in the second trimester.
Preconceptual genetic counseling is also recommended for previously affected children:
- In families with a child affected by BRA (type II), there is an increased risk of congenital renal anomalies (most commonly, congenital solitary kidney or duplication of the collecting system) in first- and second-degree relatives and an increased risk of recurrence of BRA in first-degree relatives.
- In adults with autosomal dominant polycystic kidney disease (type III), male fertility may be reduced and pregnant women are advised to have medical monitoring due to the increased risk of preeclampsia, renal impairment and hypertension during pregnancy. There is also a significant risk (given the autosomal dominant inheritance) that the fetus will be affected, so close monitoring is necessary.
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Republished with permission from theAsianparent Indonesia
