Potter sequence

What causes Potter sequence?

The features of Potter sequence are caused by a series of events that occur when there is a problem with the amount of amniotic fluid surrounding the baby. After approximately 16 weeks of pregnancy, the amount of amniotic fluid (fluid that surrounds the baby) depends on how much urine the developing baby is producing. In normal development, the baby continuously swallows amniotic fluid, which is then processed by the kidneys and excreted as urine.

Babies with Potter sequence have a problem with the kidneys or urinary tract that is preventing them from producing the correct amount of urine. This causes there to be a low amount of amniotic fluid (oligohydramnios). When there is not enough amniotic fluid, the baby’s lungs also become underdeveloped (pulmonary hypoplasia). The low amount of amniotic fluid also causes the typical facial features seen in babies with Potter sequence (Potter facies) because there is not enough fluid to provide protection from the walls of the uterus.

The exact cause of the low levels of amniotic fluid in babies with Potter sequence may vary. Possible causes include failure of the kidneys to develop (bilateral renal agenesis), polycystic kidney diseases, and prune belly syndrome. Other causes may include urinary tract obstructions, exposures to harmful substances during pregnancy, or rupture of the membranes that surround the baby, causing amniotic fluid to leak. In some cases, the exact cause of Potter sequence may not be understood.

Last updated on 05-01-20

How is Potter sequence diagnosed?

Potter sequence can be diagnosed when a doctor sees signs of the sequence, either on ultrasound or after a baby is born. Signs that might be identified on ultrasound include kidney abnormalities, low level of amniotic fluid (oligohydramnios), underdevelopment of the lungs (pulmonary hypoplasia), and facial features typical of babies with Potter sequence (Potter facies). Signs that might be identified after the baby is born may include low amounts of urine production or difficulty breathing (respiratory distress).

If Potter sequence is suspected, tests may be completed to attempt to determine the underlying cause of the sequence or to find out more information about the severity. These tests may include genetic testing, measuring urine output, imaging studies, and blood tests.

Last updated on 05-01-20

Can Potter sequence be inherited?

Potter sequence can occur for a number of reasons. Some of these reasons may be genetic, while others may occur by chance. In some cases, the underlying cause of Potter sequence is not able to be determined.

In some cases, the primary cause of Potter sequence a genetic abnormality. Genetic abnormalities may include:

If Potter sequence is caused by an underlying genetic change, it may have occurred for the first time in the affected baby, or it may have been inherited from one or both parents. The underlying cause of Potter sequence must be determined in order to tell parents the exact risk that it could happen again in a future pregnancy.

Last updated on 05-01-20

What is the long-term outlook for people affected by Potter sequence?

The long-term outlook for babies affected by Potter sequence depends on the underlying cause of the sequence. Unfortunately, many babies who are diagnosed with Potter sequence do not survive because they have many health problems affecting multiple organ systems. However, if the baby’s lungs have had time to mature and if the kidney problems are treatable, some babies with Potter sequence may survive.

It is important for parents who have babies with Potter sequence to remember that treatment may not help all babies survive. If the underlying cause of Potter sequence is determined to have a poor long-term outlook, some parents decide not to perform extreme life-saving measures. If Potter sequence is diagnosed prenatally, the doctors and parents should work together to make a delivery plan. Personalized information should be provided depending on each situation so that the best decision can be made for the family.

Last updated on 05-01-20

How might Potter sequence be treated?

Treatment options associated with Potter sequence depend on the underlying cause of the disease. These options may include a kidney transplant, medications to help the lungs develop properly, and surgical treatment of an obstruction blocking the urinary tract. In some cases, surgical treatments may be available for babies during pregnancy.

Babies with Potter sequence may require help in order to breathe when they are born. This may include resuscitation when the baby is born and ventilation to help maintain normal breathing. If there are problems with the baby’s kidneys, dialysis (removing toxins from the blood) may be recommended until other treatment becomes available. Some babies with Potter sequence may also require feeding tubes to make sure they are getting enough nutrition.

Last updated on 05-01-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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