Cystic Fibrosis and IVF: A Journey Towards Parenthood

Cystic fibrosis (CF) is a genetic disorder that affects both males and females, often impacting their fertility. While some individuals with CF are able to conceive naturally, others may require assisted reproductive technologies (ART), such as in vitro fertilization (IVF), to have biological children.

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects about 40,000 people in the United States. This rare disease primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which leads to the production of thick and sticky mucus in the airways and digestive tract. This thick mucus can clog the airways in the lungs, leading to breathing difficulties, recurrent lung infections, and ultimately, lung damage.

While there is no cure for cystic fibrosis, advancements in treatment and management have significantly improved outcomes and quality of life for individuals with CF.

Treatment typically involves medications to help clear mucus from the lungs, prevent and treat infections, improve digestion, and manage symptoms. Physical therapy, exercise, and a healthy diet are also important components of managing cystic fibrosis.

Understanding Cystic Fibrosis and Fertility

While CF presents unique fertility challenges, individuals with CF can still experience the joy of parenthood with the help of ART and IVF. Cystic fibrosis IVF success is an exciting and promising development in the field of fertility, but it is important as a CF patient to have open discussions with your CF care team, partner, and an experienced fertility specialist about family planning and the implications of pregnancy and having a family.

Female Patients with CF can be Biological Mothers

For women with CF, getting pregnant the “natural” way can be difficult. However, women with CF can still have biological children through the use of Assisted Reproductive Technology (ART).

In vitro fertilization (IVF) can be a popular option among women with CF who have a difficult time getting pregnant or whose partners are found to be genetic carriers.

Male Patients with CF can be Biological Fathers

Most men with CF (97-98%) are infertile due to a blockage or absence of the sperm canal, known as congenital bilateral absence of the vas deferens (CBAVD).  

However, men with CF are not sterile. Sperm production in the testicles is normal in the vast majority of men with CF and CBAVD. This means that most men with CF can still have biological children through ART.

CF and CBAVD (Congenital Bilateral Absence of the Vas Deferens) 

For men with CF, the majority will have obstructive azoospermia.  This means that while sperm production is normal, the sperm is unable to leave the testicles.  The reason for this is that CF mutations also cause abnormalities in the formation of the vas deferens, or the sperm ducts.  Men with CF will often have low or very low semen volume, which is a clue that an abnormality exists. A semen analysis can be obtained to verify the absence of sperm in the semen sample.

Men with CF will almost always be required to undergo surgical sperm retrieval. This can be done as either an epididymal sperm retrieval, a testicular sperm retrieval, or some combination of the two. 

After a complete evaluation with a reproductive urologist who works closely with a fertility team and andrology lab, a surgical plan for sperm retrieval can be discussed. Ultimately the surgical approach will be based on a patient’s particular anatomy and evaluation. 

The sperm retrieved will be frozen for later use in the IVF process. It is very important to have the sperm retrieval done in a reproductive medicine center that is comfortable taking care of both male and female patients with CF due to the unique medical needs and the inherent benefits of having comprehensive fertility care for both partners.

When is the right time for patients with cystic fibrosis to conceive? 

There is no right time to conceive. Every patient and couple is unique. Discussing one’s individual circumstances openly and carefully with an experienced and trusted fertility specialist is an important first step in the fertility journey.

For males with CF, it is important to recognize that healthy bodies make healthy sperm. If a male with CF has recently recovered from a hospitalization or infection, it is a good idea to wait at least 3 months to give the body time to heal before having a sperm retrieval.

Another consideration is whether a patient with CF has had a lung transplant or is considering having a lung transplant.  It is generally better to undergo the procedure for sperm retrieval while healthy, so the procedure should be considered before the pulmonary disease has become so severe that a transplant is being considered, or it should be done many months after the transplant and after healing has taken place.

Trikafta and Sperm Retrieval

Trikafta is a medication that has dramatically transformed the care of patients with cystic fibrosis. Approved for use in 2019, Trikafta is a drug that improves symptoms of cystic fibrosis for patients with at least one delta F508 mutation which is the most common CFTR gene mutation that causes CF.  

In the post-Trikafta era, men with CF have seen significant improvements in their health as well as in their sperm with Trikafta treatment. If a male patient is considering initiation of treatment with Trikafta as well as pursuing fatherhood around the same time, it is better to wait for Trikafta to take effect before the sperm retrieval since the sperm quality is generally better after and during treatment with Trikafta.    

CF and Assisted Reproductive Technology (ART) with IVF

Assisted Reproductive Technologies (ART) includes various techniques such as IVF, intrauterine insemination (IUI), surrogacy, and many other fertility therapy techniques. One of the most common types of ART is IVF, which involves manually combining an egg and sperm in a laboratory dish and then transferring the embryo into the uterus.

Cystic Fibrosis IVF Treatment

For couples interested in having biological children in whom the male partner has CF, the first step is to consult a fellowship-trained urologist and fertility specialist who can perform a full evaluation for sperm production followed by a surgical sperm retrieval. Once this procedure has been completed, the intended mother of the child will need to have a complete evaluation as well in order to prepare for the IVF process to create an embryo with the man’s sperm to implant into her uterus.

Preimplantation Genetic Testing

Preimplantation genetic testing for monogenic/single gene defects (PGT-M), previously known as preimplantation genetic diagnosis (PGD), can be used with IVF to test for over 600 rare genetic conditions, including Cystic Fibrosis. This allows patients to choose to only place healthy embryos into the womb.

When one partner either has CF disease or is a carrier for CF, it is imperative that the other partner undergo CF testing as well prior to any fertility treatment. If the other partner is also found to have a mutation or is a carrier for CF, preimplantation genetic testing is recommended.  Therefore, PGT-M is an important consideration for couples in which both partners have mutations in the CFTR gene that causes CF. When both partners have mutations, the embryos can be tested to see whether they harbor the mutation or are at risk for having CF. This technology is safe and effective, and it should be discussed with the couple’s fertility specialist team.

All of the offspring of a patient with cystic fibrosis disease will be carriers for cystic fibrosis and will be at risk for themselves having a child with cystic fibrosis if their future partner is also a carrier. This important fact should be considered for future generations of the family tree. It’s important to have open discussions with your CF care team and partner about family planning, the possibilities for IVF for CF carriers,  and the implications of having a family and pregnancy.

Selecting a Fertility Clinic Committed to CF Patients

Because every fertility journey is unique, patients with CF can benefit immensely by working with a clinic that is committed to their unique needs and offers both male and female fertility specialists and treatments all within one clinic. Such a clinic ensures highly personalized, comprehensive, and collaborative care.

Advantages of Working with a Fertility Clinic that Offers Both Male and Female Fertility Treatments and has a Partnership with the Filotimo Foundation

Atlantic Reproductive Medicine in Raleigh, North Carolina is such a clinic. In addition to having some of the country’s most highly-trained female fertility specialists, Dr. Susannah Copland and Dr. Mary Peavey, Atlantic Reproductive Medicine has one of the most highly-trained and experienced male fertility experts in the world. Dr. Matt Coward, a North Carolina native, is a renowned urologic microsurgeon specializing in treating male fertility. He is one of the only reproductive urologists in the region offering microsurgical male fertility procedures within the collaborative setting of an in vitro fertilization (IVF) practice.

Atlantic Reproductive offers the latest treatment advancements, technologies, and testing with state-of-the-art embryology and andrology labs–all in one clinic.

Travel to Atlantic Reproductive is convenient, and the Raleigh area is inviting. The office is only ten minutes from Raleigh-Durham International Airport and is centered in the Research Triangle, known for its biotech companies and three top-tier universities (UNC, Duke and NC State). World-class hotels, museums, restaurants, walking trails, and more, make visiting the Raleigh area enjoyable.

Atlantic Reproductive Medicine’s Partnership with Filotimo Foundation

The Filotimo Foundation provides support and resources to couples and individuals facing the challenges of CF. A primary focus of the Filotimo Foundation is to help couples experiencing infertility related to CF.

The word Filotimo (fee-LOH-tee-moh) comes from a Greek ideology that reflects an attitude towards others and humanity. It means showing empathy, compassion, and generosity without expecting anything in return, taking pride in doing what is right and honorable, and remaining humble at the same time.

Atlantic Reproductive Medicine is proud to be the trusted reproductive medicine partner of the Filotimo Foundation for couples experiencing infertility. If you or your partner has CF resulting in infertility, please visit www.filotimofoundation.com to learn more about resources and financial support that may be available for infertility-related treatment expenses at Atlantic Reproductive Medicine.

The process is simple:

• Visit www.filotimofoundation.com
• Fill out the “Request Assistance” form on the Filotimo Foundation website.
• Filotimo will connect with the couple to learn about their journey with infertility.
• A request is sent to Atlantic Reproductive Medicine to set up appointments.
• Atlantic Reproductive Medicine team of physicians meet and consult with the couple to create a treatment plan for Filotimo’s review.
• Filotimo contacts the couple to determine their potential financial assistance and cover a portion or all of the fertility treatment cost if affordability is an issue.