Although cystic fibrosis (CF) can affect fertility in both men and women, many individuals can successfully have biological children with the help of fertility treatments and assisted reproductive technologies (ART).
Cystic fibrosis (CF) is an inherited genetic condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations affect how salt and water move in and out of cells, leading to the production of thick, sticky mucus throughout the body. The condition primarily affects the lungs and digestive system, but it can also impact reproductive health and fertility.
Historically, fertility challenges associated with CF received less attention because the primary focus was on managing the disease itself. Today, improved treatments such as CFTR modulator therapies mean people with CF can live longer, healthier lives and pursue parenthood.
How Cystic Fibrosis Affects Female Fertility
Many women with cystic fibrosis can conceive naturally, but getting pregnant may take longer than expected. Several factors may affect fertility in women with CF:
- Thickened cervical mucus can make it more difficult for sperm to travel through the reproductive tract.
- Irregular menstrual cycles or ovulation disorders may occur due to chronic illness, nutritional deficiencies, or low body weight.
- Hormonal imbalances and delayed puberty can also impact reproductive function.
- Pancreatic insufficiency and poor nutritional status may indirectly affect fertility.
Fortunately, many women with CF can achieve pregnancy with appropriate medical optimization and fertility treatment when needed.
“Patients with cystic fibrosis have a unique reproductive history and set of health considerations,” says Dr. Shahryar Kavoussi, a leading Austin-based female fertility specialist. “Our goal is to identify the factors affecting fertility and develop a personalized treatment plan that gives each patient the best chance of success.”
Fertility Treatment for Women with CF
For women with ovulatory dysfunction, medications that stimulate ovulation may improve the likelihood of conception. Optimizing nutritional status, weight, and overall health can also enhance reproductive outcomes. Intrauterine insemination (IUI) may be recommended to help bypass the effects of thick cervical mucus by placing washed and prepared sperm directly into the uterus, improving the chances that sperm will reach and fertilize the egg.
How Cystic Fibrosis Affects Male Fertility
Male infertility is far more common in cystic fibrosis. More than 95% of men with CF are infertile due to a condition called congenital bilateral absence of the vas deferens (CBAVD), in which the tubes that normally transport sperm from the testicles fail to develop properly.
Most men with CF still produce healthy sperm within the testicles. Although sperm production is usually preserved, sperm cannot travel into the ejaculate because the vas deferens is absent. Some men may also experience testosterone deficiency or other hormonal issues that can further affect fertility.
“Advances in sperm retrieval have made biological fatherhood possible for many men with cystic fibrosis,” says Austin-based male fertility specialist Dr. Parviz Kavoussi. “Working with a reproductive urologist experienced in these procedures is key to identifying the most appropriate treatment.”
Fertility Treatment for Men with CF
As a result, surgical sperm retrieval is often necessary. Procedures such as testicular sperm extraction (TESE) allow physicians to obtain sperm for use with IVF and ICSI. TESE has enabled many men with CF to father biological children successfully.
The Importance of Genetic Counseling
Because cystic fibrosis is an inherited genetic condition, genetic counseling plays an important role in family planning. If one partner has CF, carrier screening of the other partner for CFTR mutations can help determine the risk of having a child with cystic fibrosis. If both partners carry CF-related mutations, preimplantation genetic testing (PGT) during IVF can be used to identify embryos that are unaffected by the disease before transfer.
“Genetic counseling helps patients make informed family-building decisions,” says Dr. Shahryar Kavoussi. “Understanding carrier status and the reproductive options available helps couples choose the path that is right for them.”
Building a Family with Cystic Fibrosis
A diagnosis of cystic fibrosis does not mean parenthood is out of reach. While CF can create fertility challenges for both men and women, advances in reproductive medicine have greatly expanded family-building options. Through individualized fertility evaluation, assisted reproductive technologies, and coordinated care between fertility specialists and CF care teams, many patients with cystic fibrosis can successfully achieve their dream of becoming parents.
