Cystic Fibrosis and Fertility: Exploring Treatments and Beyond
Cystic fibrosis (CF), a genetic disorder that affects the body's production of mucus, can significantly impact fertility and pregnancy outcomes for both males and females.
Males and Infertility
Approximately 97-98% of men with CF are infertile due to the congenital absence of the vas deferens, the tube that carries sperm from the testes to the ejaculatory ducts. This absence leads to obstructive azoospermia, meaning men are infertile but not sterile. Other sperm abnormalities, such as low sperm count, abnormal sperm shape, and poor sperm motility, may also contribute to infertility.
Assisted reproductive technologies (ART), such as sperm retrieval combined with in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), can allow men with CF to father children.
Females and Fertility Challenges
While women with CF are generally fertile, about 20% experience fertility difficulties. Challenges include thickened cervical mucus, which can impair sperm movement and fertilization, and severe malnutrition associated with CF, which can disrupt ovulation and cause amenorrhea (lack of menstruation).
Pregnancy in women with CF carries risks such as exacerbation of respiratory issues and nutritional challenges, requiring specialized care.
Treatments and Management
Male patients often rely on ART due to congenital absence of vas deferens. Female patients benefit from nutritional support and management of respiratory symptoms to optimize fertility. Emerging therapies for reproductive disorders, such as stem cell or regenerative treatments, are under investigation but not yet standard for CF-related infertility.
Genetic counseling and screening are recommended for both partners, especially considering the autosomal recessive inheritance of CF. Preimplantation genetic testing (PGT) during IVF may be used to reduce the risk of CF in offspring.
Pregnancy Complications
Pregnancy in CF patients requires multidisciplinary management due to risks of respiratory decline and nutritional insufficiency. Careful monitoring and support can lead to successful pregnancies, but potential complications include pulmonary infections, low birth weight, and preterm delivery.
Moving Forward
While CF imposes significant reproductive challenges, advances in assisted reproduction and specialized medical care improve fertility outcomes and pregnancy success for affected individuals. Prenatal diagnostic testing can help determine whether an unborn child has CF or is a CF carrier. Significant considerations include overall health, nutritional status, weight maintenance, lung function, and the safety of CF medications for pregnancy.
Amniocentesis and chorionic villus sampling can be used to test for the presence of the CF gene during pregnancy. Prospective parents using in vitro fertilization can request preimplantation testing to test embryos for CF and other genetic disorders.
People with CF can safely chest or breastfeed, but it can tire out the person and use up many calories. It's important for individuals with CF to maintain a healthy pregnancy through careful planning, risk management, genetic investigations, and treatment considerations.
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The CFTR gene creates an important protein that controls the movement of sodium and water in the body's cells. Gene mutations impair the function of this protein, resulting in less water in a person's mucus, making it thick and sticky and leading to internal blockages.
Certain antibiotics used to treat CF infections and lung exacerbations may pose some risk to the unborn child. The recommended vitamin A intake during pregnancy is around 770 mcg (for women under 50 years old), but no more than 10,000 IU (international units) daily, as higher doses early in pregnancy may harm the fetus.
If only one parent is a carrier, there is a 50% chance that the child will be a CF carrier.
