Breaking the Cycle of Polycystic Kidney Disease (PKD) Through Genetic Screening
Polycystic kidney disease (PKD) is a hereditary condition that can impact generations of families.
Polycystic kidney disease (PKD) is a hereditary condition that can impact generations of families. For individuals with PKD who wish to start a family, understanding how the disease interacts with fertility and reproductive health is crucial.
Dr. Jovana Lekovich, Reproductive Endocrinologist and Infertility specialist at RMA of New York and Dr. James Chevalier, Nephrology expert at the Rogisin Institute, discuss why individuals affected by PKD may choose to screen embryos using preimplantation genetic testing (PGT-M) to prevent passing the disease to future generations.
What is polycystic kidney disease (PKD), and how is it inherited?
Polycystic kidney disease (PKD) is a genetic disorder that causes fluid-filled cysts to develop in the kidneys, often leading to kidney failure. The most common form, autosomal dominant PKD (ADPKD), is inherited in a dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent carries the gene. Since PKD can progressively worsen over a person’s lifetime—sometimes requiring dialysis or a kidney transplant—many families are looking for ways to stop the cycle of passing the disease to their children.
How can families affected by PKD prevent passing it on to their future children?
Unfortunately, PKD is not a curable disease and affects about 600,000 people in the United States. It's one of the leading causes of people ending up needing dialysis before the age of 50. The disease can be prevented by assisted reproductive technology (ART), through in vitro fertilization (IVF). After ovarian stimulation, a two week-process, embryos are created and then tested ahead of implantation. This is known as preimplantation genetic testing for monogenic disorders (PGT-M).
PGT-M allows us to:
✔ Screen embryos created through IVF and identify those that do not carry the PKD gene.
✔ Select a healthy embryo for implantation, preventing the transmission of PKD to future generations.
✔ Provide peace of mind to parents who want to ensure their child is free from inherited kidney disease.
By using PGT-M, families can break the cycle of PKD and give their children the best chance for a healthy life.
Why would someone choose genetic screening over natural conception?
Natural conception carries a 50% chance of passing PKD to a child. While some individuals may choose to take that risk, others don’t want their child to face the uncertainty of PKD progression—which can lead to kidney failure, dialysis, or the need for a transplant later in life. Genetic screening gives families more control over their reproductive choices and allows them to make an informed, proactive decision about their child’s health..
What does the PGT-M process involve for PKD patients?
Here’s a step-by-step breakdown:
- IVF Treatment: The patient undergoes in vitro fertilization (IVF) to create embryos.
- Embryo Biopsy: A few cells are removed from each embryo for genetic testing.
- PGT-M Screening: The embryos are tested for the specific PKD mutation.
- Healthy Embryo Selection: Only embryos without the PKD gene are implanted, ensuring the child does not inherit the disease.
The goal is simple: to prevent PKD from being passed down while ensuring a healthy pregnancy and baby.
Does using PGT-M guarantee a healthy child?
While PGT-M eliminates PKD, it does not screen for all possible genetic conditions. However, many families choose to combine PGT-M with PGT-A (Preimplantation Genetic Testing for Aneuploidy) to reduce the risk of chromosomal abnormalities that could cause miscarriage or developmental issues. By taking these steps, families can significantly improve the chances of a successful, healthy pregnancy.
What advice would you give to someone with PKD who is considering starting a family?
Knowledge is power—so start by learning about your options. If you’re thinking about pregnancy, we recommend:
✔ Genetic counseling to understand your specific PKD mutation and reproductive risks.
✔ Consulting with a fertility specialist to discuss PGT-M and fertility preservation.
✔ A multidisciplinary approach—working with nephrologists and maternal-fetal medicine specialists to ensure a safe and healthy pregnancy.
It should also be known that there are additional resources out there to suport patients as they navigate their family-building journeys and have a family history with the disease. Most notably, the PKD-Free Alliance, dedicated to ending Polycystic Kidney Disease (PKD) by preventing it from being passed down to future generations. The organization helps patients through finanical grants and raising awareness of the disease.
Most importantly, know that you have choices—and with modern reproductive technology, you can take control of your family’s health.