Could your child inherit PKD? Here's what to know before conceiving

Thinking about starting or growing your family can bring up a lot of questions - especially if you or your partner are living with polycystic kidney disease (PKD).

One of the most common questions we hear is: “What are the chances my child will have PKD too?” It’s an incredibly important and deeply personal concern.

The good news? There are options. Whether you're just beginning to explore the idea of having children or you're actively planning, this blog will walk you through what you need to know - and the choices available to you.

Understanding how PKD is inherited

Let’s start with the basics. PKD isn’t just one disease - it’s actually two distinct types, and knowing which kind runs in your family makes a big difference when it comes to family planning.

• Autosomal Dominant PKD (ADPKD): This is the more common form of PKD. If you have it, there's a 50% chance you’ll pass it on to each child. That means, for every pregnancy, there’s a one-in-two chance the baby will inherit the gene and eventually develop PKD.
• Autosomal Recessive PKD (ARPKD): This form is much rarer and typically shows up earlier in life, sometimes even before birth. To be affected, a child must inherit a copy of the ARPKD gene from both parents. If only one parent carries the gene, the child won't have PKD but could be a carrier. If one parent has ARPKD, it's important to test the other partner to see if they carry the gene too - this can help estimate the risks before conceiving.

If you’re not sure which type of PKD you or your partner has, or whether you might be a carrier, a certified genetic counsellor or expanded carrier screening can help you find out.

Option 1: Spontaneous conception with ultrasound screening

Many couples with PKD still choose to conceive naturally, and that’s a valid option. In this case, during the routine anatomy ultrasound of the fetus at 18-22 weeks, doctors look for signs of normal organ development throughout the fetal body.

In some cases, signs of PKD may show up on the ultrasound. But depending on the type, it’s not always easy to detect before birth - especially with ADPKD, since most people with that form don’t show symptoms until adulthood.

If anything unusual is seen, more testing may be offered. From there, couples can decide how they’d like to move forward. Options may include continuing the pregnancy, or considering a termination for medical reasons (TFMR).

It's a good idea for couples to talk about what they would like to do in this situation before they choose to conceive. These decisions can be emotional and complex, but you won’t have to make them alone - your medical team and counselling supports will be there to help.

Option 2: Diagnostic prenatal testing - CVS or amniocentesis

Another path is to conceive naturally and then undergo prenatal testing for a clear genetic answer. This includes:

• Chorionic villus sampling (CVS): Done during the two-week window between 12-14 weeks.
• Amniocentesis: Usually done anytime after 15 weeks.

They involve using a thin needle to collect a sample from the placenta (CVS) or amniotic fluid (amniocentesis). These samples are then tested to see if the baby inherited the PKD gene.

While both tests are considered safe, there can be risks, and you should always discuss potential risks and benefits with a doctor or genetic counsellor.

Results take about 2–3 weeks. If the baby is found to have PKD, you and your partner can decide how to move forward. These are never easy choices, but knowledge can be empowering.

Option 3: Using donor sperm or donor eggs

If one partner has PKD, some couples choose to use donor sperm or donor eggs to avoid passing on the condition. For example:

• If the partner who produces sperm has PKD, you could use donor sperm via a procedure called intrauterine insemination (IUI). It typically costs around $1,000 per cycle, plus $1,500–$3,000 for donor sperm. Each donor sperm purchase usually provides enough sperm for multiple IUI cycles, as usually multiple cycles are needed. It is advisable to look into your provincial fertility coverage and personal health insurance plan for details on subsidies and help with costs.
• If the partner who produces eggs has PKD, donor eggs are an option. These are fertilized in a lab using the intended partner’s sperm, and the resulting embryo is transferred to the uterus. Donor eggs can cost $12,000–$18,000 plus a portion of the IVF cost, and $2,000–$10,000 for embryo transfers, depending on how many are needed.

While these costs can add up, it’s worth checking if your province offers funding, or if your insurance covers any part of fertility care.

Option 4: IVF with genetic testing (PGT-M)

Some couples choose in-vitro fertilization (IVF) with preimplantation genetic testing for monogenic conditions (PGT-M) to reduce the chance of passing on PKD.

Here’s how it works:

1. You’ll meet with a fertility clinic to begin the IVF process.
2. The partner with ovaries takes hormone injections for about 10 days to encourage multiple eggs to grow.
3. Those eggs are then retrieved through a quick procedure under sedation.
4. In the lab, the eggs are fertilized and allowed to grow for 5 days.
5. The embryos (now called blastocysts) are biopsied and frozen.
6. The biopsy is sent to a genetics lab, which uses a custom-made probe (based on your DNA) to test for the PKD gene.
7. Once the results are in, embryos without the PKD gene can be transferred to the uterus.

While the process of IVF with PGT-M can reduce the risk of passing on PKD to your child, this can be a physically and financially difficult path - and some couples require multiple rounds of IVF with PGT-M to achieve their desired family size.

The cost for IVF with PGT-M can be high: around $25,000 to $30,000 for one cycle. And some people may need more than one cycle. But many provinces now offer some financial help:

• Ontario covers one IVF cycle (not including medications and storage)
• Quebec covers one IVF cycle including medications and storage
• Manitoba and Nova Scotia offer 40% tax credits on fertility expenses
• New Brunswick, Newfoundland & Labrador, and PEI offer grants or subsidies
• British Columbia will begin offering one funded IVF cycle starting April 2025

Always check your provincial program and any private insurance plans to see what’s covered. And if you’re pursuing IVF with PGT-M specifically to avoid passing on PKD, ask your healthcare team to connect you with additional resources or support, if available.

Final thoughts

Deciding how to build your family is never a one-size-fits-all experience - especially when you’re navigating something as personal as PKD. Whether you choose to conceive naturally, use prenatal testing, explore donor options, or go through IVF with PGT-M, the path you take is your own.

What matters most is that you’re making an informed choice that feels right for you, your partner, and your future family.

Want to learn more about IVF and PGT-M?

Visit: [Insert IVF & PGT-M info website here]

If you're seeking a confidential and supportive online community while going through IVF, you might want to check out https://ivf.ca/

You’re not alone in this journey - and whatever path you take, there’s a community here to support you every step of the way.

Patient Perspectives

Each person's story is unique, but you may find it helpful to read these experiences of others trying to conceive while affected by PKD.

Joy Pekar and her husband Arie (who has ADPKD) used IVF and PGT-M during their family planning journey. Joy talked about her experience during our 2021 PKD Summit. You can watch the video here on our YouTube channel.

If you're interested in exploring psychotherapy while going through IVF and PGT-M with PKD, Joy is now a Registered Psychotherapist (Qualifying), and welcomes clients who are looking for a mental health professional who has experience supporting people on a PKD or infertility journey.

Judith Bélair-Kyle, another ADPKD patient, talks in this blog about how she and her husband used IVF and PGT-M to retrieve embryos while she waited for a kidney transplant, and how they raised the funds to pay for the expensive procedures.

Ciara Morin, who has ADPKD, conceived two sons naturally, and talks in this blog about how she and her husband continue to manage their family's health, not knowing if either of their children has PKD. 

More

• Learn about how PKD can impact pregnancy in this resource
• Watch this video about pregnancy and PKD from our 2022 PKD Summit