Reproduction and Cystic Fibrosis: Fertility Challenges, Guidance for a Healthy Pregnancy
Cystic fibrosis (CF) is a genetic disease that affects the lungs, pancreas, and other organs. For individuals with CF who are considering pregnancy, it is essential to be well-informed and prepared.
Pre-pregnancy planning is crucial, and carrier screening for the CFTR gene mutations is recommended for all individuals planning pregnancy. Carrier testing usually starts with one parent, and if positive, the other parent is tested to assess the risk to offspring. Prenatal diagnostic options such as chorionic villus sampling (CVS) or amniocentesis are available but carry some risk to the fetus.
Because CF causes impaired mucus clearance and lung disease, evaluating lung function prior to pregnancy is critical. Lung function tests during pregnancy are important for monitoring lung health in individuals with CF. Ideally, forced expiratory volume (FEV1) should measure 50% or more before becoming pregnant to reduce the risk of complications.
Close monitoring during pregnancy is essential, including regular assessment of respiratory status and fetal development. Genetic counseling should be provided based on carrier screening results. Regular prenatal appointments are essential for individuals with CF to ensure appropriate health monitoring and management during pregnancy.
Maintaining proper nutrition during pregnancy is crucial for people with CF and may require additional caloric intake, vitamin supplementation, and support from a dietitian. CF often causes pancreatic insufficiency leading to malabsorption, so supplementation with pancreatic enzymes, vitamins, and adequate caloric intake is recommended throughout pregnancy to support maternal and fetal health.
CF therapies may require adjustment during pregnancy to balance maternal health and fetal safety. Consultation with specialists familiar with CF in pregnancy is necessary to determine specific recommendations for medication management.
After giving birth, people with CF should continue to receive close medical supervision to monitor their recovery, lung function, and overall health, as well as the infant's health. Vigilant respiratory care and nutritional support must continue after delivery to ensure maternal recovery and support for breastfeeding if chosen. Family planning and genetic counseling regarding future pregnancies are also important aspects.
Mental health screening may be conducted during pregnancy for individuals with CF to address emotional concerns. Over 98% of men with CF have fertility issues due to a problem with sperm transportation, and some females with CF produce healthy eggs but may find it harder to get pregnant than people without CF. Irregular or absent menstrual cycles and thicker cervical mucus are common issues in females with CF that can affect fertility.
Burkholderia cepacia infection testing may be conducted during pregnancy to assess infection risk in individuals with CF. Liver and kidney function testing may be necessary during pregnancy for individuals with CF to monitor organ health.
For people with CF who are considering pregnancy, it is essential to consult their healthcare team to discuss potential risks and necessary steps to improve their health. Asking questions to a doctor about CF's impact on pregnancy, necessary tests, and recommended nutritional plans can help ensure a healthy pregnancy. Pregnancy can increase the risk of complications such as gestational diabetes and low infant birth weight for people with CF, but with careful planning and coordinated care, a healthy and successful pregnancy is possible.
