Prenatal Screening for Polycystic Kidney Disease (PKD)

Pregnant or planning to become pregnant couples or persons commonly fear the possibility of something being medically wrong with their baby. To ease their discomfort, they turn to resources for guidance in planning and preparation. However, thousands of informational sources bombard new and planning parents with infinite, scary possibilities. Often leaving people wondering where to begin.

Thankfully, prenatal genetic testing drowns out the noise by pinpointing what can realistically be examined during pregnancy. At the least, this helps parents organize concerns about their baby’s health in a way that is not overwhelming. One such prenatal genetic test is polycystic kidney disease (PDK). Find out all you need to know about PDK prenatal testing below!

A brief overview

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PKD is an inherited disorder where cyst clusters develop within the kidneys, causing prolonged enlarged kidneys and loss of functionality. Despite symptoms, many people live with undiagnosed PDK for years. Although PKD primarily affects the kidneys, it can spread to other body parts, including the liver.

Common symptoms of PKD:

• Bloody urine
• Kidney stones
• Kidney failure
• High blood pressure
• Urinary tract infections
• Kidney infections
• Abdominal swelling
• Side or back pain
• Headaches 

There are two types of PDK: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD commonly develops between ages 30 and 40 but can be present in children. It is also the most common form of PDK. ARPKD is the least common, and most individuals are symptomatic at birth. However, sometimes symptoms are dormant until later childhood or adolescence. Only one biological parent needs to carry the genetic disorder for ADPKD and both for ARPKD.

Complications of PDK can include:

• Preeclampsia
• Heart valve abnormalities
• Brain aneurysms
• Diverticulosis
• Liver cyst development
• Chronic pain
• Kidney failure (half of PDK individuals by age 60)

What does the test involve?

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PKD prenatal screening and testing are relatively safe and easy. Some other types of prenatal screening may require the pregnant person to give blood or use an invasive measure like extracting amniotic fluid with a needle. Prenatal screening for PDK, however, uses ultrasounds.

Prenatal ultrasonography uses an ultrasound or a transvaginal ultrasound. Ultrasounds are topical, occurring on the stomach’s surface. A water-soluble gel is placed on the abdominal skin where a device (transducer) is applied to the same area. The transducer sends high-frequency sound waves to create live digital imaging through reflective echoes. Transvaginal ultrasounds follow the same strategy, but a probe is inserted into the vaginal canal (often producing higher-quality imaging).

How to find out if you're a carrier

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Determining if the biological parents are genetic carriers of PKD is crucial to pinpoint the chances of passing PKD to each biological child. For example, there is a 50% chance of ADPKD being given to children if one parent is a carrier and a 25% risk of ARPKD if both parents are carriers.

Genetic testing is required to know if you are a carrier, requiring those tested to provide blood or saliva samples. The tests search for PKD1 gene mutations on chromosome 16.

What are the risk factors?

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As previously mentioned, ultrasounds are generally harmless, posing little to no risk to pregnant people or the pregnancy. Typically, many PDK carriers have healthy pregnancies, deliveries, and babies. However, a PKD carrier or their pregnancy might experience harm if PKD prenatal screening and tests are overlooked and not allowed to identify PKD early on.

Additionally, because PKD and pregnancy are associated with causing high blood pressure, pregnant PDK carriers must be monitored throughout the pregnancy or diagnosed as soon as possible. Some pregnant people can develop hypertension and have elevated blood pressure even after delivery. Preeclampsia can also occur because of heightened blood pressure and increased protein in the urine.

Preeclampsia can cause issues to the unborn baby, including: 

• Low birth weight
• Premature birth
• Fetal growth restriction
• Placental abruption

Treatment options for PKD

Standard treatment methods for PKD involve treating the side effects of PDK: pain medication, surgery to shrink cysts, treating urinary tract infections, and kidney transplantation. High blood pressure is a common risk that requires vigilant monitoring for PKD treatment.

Some proactive changes to managing high blood pressure include:

• Low salt diet
• Physical activity
• No smoking
• Reduce alcohol consumption
• Take medication
• Maintain a healthy weight

Stem cell treatment for PKD

A growing and effective treatment for PKD is stem cell transplants. Increasing evidence shows that stem cell treatment proves to be a possible, viable alternative for regenerative properties and restoring kidney function. Some of these benefits surround tissue regeneration and identifying potential drug effects for enhanced treatments. Although studies of human stem cell transplants are limited, animal subjects continue to provide enlightening results. This has prompted the medical world to look closely at PDK and stem cell transplantation.

Bank your stem cells with Anja Health

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Preparing to have a child can be a complex and sensitive process. Navigating through this process is overwhelming when exploring the avenues of identifying, preparing for, and treating possible health conditions your child may inherit.

Treatment for genetic conditions continues to use stem cell transplantation for regenerative and restorative capabilities. Therefore, you can rest assured that the possibility of your child inheriting PDK or other health conditions will be well cared for when banking stem cells. Contact Anja Health today to start your stem cell banking process with reliable services!