Reproductive health and cystic fibrosis: New guidance offers options and hope

Raksha Jain, M.D., is Medical Director of the Adult Cystic Fibrosis Program and Professor of Internal Medicine in the Division of Pulmonary and Critical Care Medicine at UT Southwestern Medical Center. She discusses how the latest treatment advances in cystic fibrosis have made it possible for more patients to consider having biological children.

For much of the history of cystic fibrosis (CF) care, reproductive health was not a major part of the conversation. Fertility challenges were the norm for men and women with this genetic disorder, and many grew up assuming biological parenthood was not possible.

Clinical visits often focused on more immediate concerns: How is your lung function? Is your weight holding steady? Are symptoms affecting your ability to get through the day?

Today, these conversations look markedly different. The introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulators has transformed the quality of life for many patients with CF. They are living longer, healthier lives, and for many of them, having biological children has become a realistic option.

One of the most striking changes has been in fertility among women with CF. After the approval of the triple-combination modulator elexacaftor/tezacaftor/ivacaftor (Trikafta) in 2019 in the U.S. and in 2020 in the U.K., pregnancy rates nearly doubled in those countries. Women who once faced fertility challenges are beginning to conceive naturally, often to their surprise.

Clinicians suddenly found themselves navigating questions that previous generations of CF providers rarely encountered. In response, the Cystic Fibrosis Foundation convened a multidisciplinary group of specialists from around the world to develop the first clinical set of guidance for reproductive health care throughout the lifespan.

I was the corresponding author for this guide, published in August 2026, that recommends providing age-appropriate education early and discussing reproductive health at least annually starting in the teen years.

Women with CF: Pregnancy planning or prevention

couple are seated in chairs and smiling at each other while seated across desk from physician — New guidelines offer advice on fertility, contraception, pregnancy, genetic testing, and family planning for people with cystic fibrosis.

Women with CF are becoming pregnant more often and, overall, doing better during pregnancy than we might have expected years ago.

CFTR modulators, first introduced in 2012, play an important role in this. Cystic fibrosis can cause cervical mucus to become unusually thick, creating a barrier that makes it more difficult for sperm to reach the uterus. CFTR modulator therapy can improve the cervical environment, which may help explain why fertility has increased.

That is good news for women who want to become pregnant. And it also means that women who do not want to become pregnant should not assume having CF will prevent pregnancy.

Choosing contraception

One misconception that persists is that women with CF do not need contraception. In reality, most have the same broad range of contraceptive options as anyone else.

Lumacraftor/ivacaftor (Orkambi), an older and less commonly used CFTR modulator, can make hormonal contraception less effective. Most other CFTR modulators do not interfere with hormonal birth control. Patients should talk with a CF specialist and Ob/Gyn about which contraceptive method best fits their lifestyle, medications, and plans for pregnancy.

If you’re considering pregnancy, plan ahead

Patients who are considering pregnancy should visit with their CF specialist before trying to conceive. This gives patients an opportunity to optimize their health; the healthier they are going into pregnancy, the more smoothly we expect that pregnancy to go.

A preconception visit may include assessments to help manage or enhance:

Lung function and respiratory health
Nutrition and weight
CF-related diabetes or risk of diabetes
Medications and supplements
Other CF-related health conditions

This also is the time to meet with a genetic counselor. Because CF is an inherited condition, patients and their partners should be offered carrier screening, ideally before pregnancy. This is a blood test that can estimate the chances a child might inherit cystic fibrosis or another genetic condition from their parents.

If one or both parents have genetic variants that could cause CF, a genetic counselor can explain what this may mean for the pregnancy. They will also discuss options for reproductive genetic counseling, such as prenatal testing or in vitro fertilization (IVF) with preimplantation genetic testing. These conversations give patients data to make informed decisions for family planning.

During pregnancy: Expect extra monitoring

A woman who is pregnant holds a paintbrush and stands in front of a wall with a green heart painted on it — Patients with cystic fibrosis will likely need more monitoring from their care team during their pregnancy.

Pregnancy for a woman with CF is still considered higher risk. Even though outcomes have improved substantially, there is still an elevated risk of certain complications, including premature birth and gestational diabetes.

Visits. Patients will need more frequent visits with their CF team and obstetric team, which likely will include a maternal-fetal medicine specialist who is specially trained to manage a high-risk pregnancy. We will closely monitor lung function, nutrition, weight gain, and medications and communicate about care throughout the pregnancy.

Medication. We know CFTR modulators and other CF medications cross the placenta, meaning the baby is exposed to the medication. However, stopping an effective modulator can cause the patient’s own health to deteriorate. Do not stop taking CF medications unless the care team recommends it.

Current drug safety evidence is reassuring. UT Southwestern has been involved in research to determine whether CF medications are safe for patients who are pregnant and breastfeeding and for their babies in the first two years after delivery. However, we still have much to learn about long-term effects. Decisions about medication should be made between patients and their CF and obstetric teams.

Blood sugar. CF can affect the pancreas and the body’s ability to regulate blood sugar. About 30%-40% of adults with cystic fibrosis develop CF-related diabetes, and women with CF also are at increased risk of developing gestational diabetes.

The new guidance recommends an oral glucose tolerance test before pregnancy and extra testing during pregnancy. Finding high blood sugar early gives us the opportunity to treat it and reduce diabetes-related risks, such as high blood pressure during pregnancy, premature birth, and need for a C-section delivery.

After delivery: Breastfeeding is increasingly an option

Breastfeeding requires additional calories, and maintaining adequate nutrition and weight has historically been challenging for many patients with CF. That picture is changing, too.

Women whose nutrition is in a good place before pregnancy are increasingly tolerating both pregnancy and breastfeeding. CFTR modulators do pass into breast milk, so patients should discuss breastfeeding with their CF care team and the baby’s pediatrician. Nutrition and weight also deserve close attention after delivery.

Extra newborn screening for CF

Early research and case reports suggest that because CFTR modulators cross the placenta, babies with cystic fibrosis who are exposed to the drugs before birth may not be born with pronounced signs of CF. Some of the common signs include high levels of immunoreactive trypsinogen (IRT) in the blood, severe jaundice, salty skin, or severe neonatal constipation.

Ironically, this promising development creates a new challenge: Traditional newborn screening may miss CF in a baby who is exposed to CFTR modulators in utero. When there is a possibility the baby may have inherited CF, genetic testing after birth can provide a clearer answer than newborn screening alone.

Men with CF: Fertility remains a challenge

While reproductive possibilities have changed dramatically for women with CF, the outlook is different for men. More than 95% of men with CF cannot conceive naturally because they are born without vas deferens – the tubes that carry sperm from the testes. Most male patients still produce sperm, but the sperm don’t have a pathway out.

Men with CF who want biological children generally need sperm retrieval combined with assisted reproductive technology such as IVF. But here, too, research is giving us an intriguing glimpse into what the future can hold.

CFTR modulators cannot restore a vas deferens that did not develop before birth. But because these drugs cross the placenta, a male fetus with CF may be exposed to the treatment when the reproductive system is developing. Several case reports have described boys with CF who were exposed to CFTR modulators before birth and were born with intact vas deferens.

These are case reports, not large studies, so we cannot yet say whether prenatal exposure will preserve fertility later in life. But it raises the possibility that the reproductive outlook for the next generation of men with CF could look very different.

A new conversation about life with CF

Pregnant woman seated next to man while they talk to a doctor — New guidelines can help patients with cystic fibrosis get answers to questions about reproductive health and family planning.

The pace of change in cystic fibrosis care has been extraordinary. Reproductive health should no longer be an afterthought. Questions that once centered on survival and daily health now increasingly include family planning, pregnancy, and parenthood. The new guidance recommends introducing these topics early, revisiting them regularly, and giving patients ample information to decide whether, when, and how they want to become a parent.

Women with cystic fibrosis are becoming pregnant more easily and having healthier pregnancies than many of us would have imagined a generation ago. And research is beginning to ask questions that once would have seemed unthinkable – including whether treatment before birth could change the earliest effects of CF.

The conversation is no longer just about managing cystic fibrosis today. Increasingly, it’s about helping patients plan for the life they want to build tomorrow.

To talk with an expert about cystic fibrosis care, make an appointment by calling 214-645-6616 or request an appointment online.