WeeklySA_AdminREPRODUCTIVE: Advances in treatment are opening new possibilities for people with cystic fibrosis who want children. But pregnancy planning, contraception and careful monitoring remain essential, writes Dr Raksha Jain…
By Raksha Jain
For much of the history of cystic fibrosis care, reproductive health was rarely a central part of the conversation. Many people with the inherited condition grew up assuming biological parenthood would not be possible.
Clinical visits tended to focus on more immediate concerns: lung function, weight and the symptoms affecting daily life.
Today, those conversations are changing. Treatments known as cystic fibrosis transmembrane conductance regulator (CFTR) modulators have improved the quality of life for many patients. As people live longer and healthier lives, having biological children has become a realistic possibility for more of them.
Cystic fibrosis affects the movement of salt and water in the body, causing thick mucus to build up in organs including the lungs and digestive system. It can also affect fertility.
One of the most striking changes has been among women with cystic fibrosis. Following the approval of the triple-combination treatment elexacaftor/tezacaftor/ivacaftor, known as Trikafta, pregnancy rates rose substantially in the United States and Britain. Some women who had experienced fertility difficulties began conceiving naturally, often to their surprise.
Reproductive health should no longer be an afterthought. Questions that once centred on survival and daily health now increasingly include family planning, pregnancy and parenthood…
Clinicians found themselves addressing questions that previous generations of cystic fibrosis specialists had encountered less frequently. In response, the Cystic Fibrosis Foundation brought together specialists from around the world to develop reproductive health guidance for patients throughout their lives.
I was the corresponding author of the guidance, published in August 2026 in The Lancet Respiratory Medicine. It recommends age-appropriate education beginning early, with reproductive health discussions revisited regularly.
Planning or preventing pregnancy
CFTR modulators may help improve fertility in women with cystic fibrosis. The condition can cause cervical mucus to become unusually thick, making it harder for sperm to reach the uterus. Modulator therapy can improve the cervical environment, which may help explain the increase in pregnancies.
That is encouraging for women who want children. It also means that women who do not wish to become pregnant should not assume cystic fibrosis will prevent pregnancy.
One persistent misconception is that women with the condition do not need contraception. In reality, most have access to the same broad range of contraceptive options as other women.
Some medication interactions do need attention. Lumacaftor/ivacaftor, sold as Orkambi, is an older CFTR modulator that can make hormonal contraception less effective. Most other modulators do not interfere with hormonal birth control.
Before trying to conceive
Anyone considering pregnancy should consult their cystic fibrosis team beforehand. A preconception visit provides an opportunity to assess and improve health before conception.
The team may review lung function, nutrition and weight, medication and supplements, and cystic fibrosis-related diabetes or the risk of developing it. Other health conditions can also be addressed.
This is also a good time to speak to a genetic counsellor. Because cystic fibrosis is inherited, patients and their partners should be offered genetic assessment and carrier screening where appropriate, ideally before pregnancy.
A counsellor can explain the chance of a child inheriting the condition and discuss options such as prenatal testing or in vitro fertilisation (IVF) with genetic testing of embryos. The aim is to give prospective parents information to make decisions that are right for them.
Closer monitoring during pregnancy
Pregnancies in women with cystic fibrosis are still considered higher risk. Although outcomes have improved, there remains an increased risk of complications, including premature birth and gestational diabetes.
Patients usually need more frequent appointments with their cystic fibrosis and obstetric teams. Care may also involve a maternal-fetal medicine specialist trained to manage higher-risk pregnancies.
The teams will monitor lung function, nutrition, weight gain and medication, and coordinate care throughout the pregnancy.
Medication decisions need particular attention. CFTR modulators and some other cystic fibrosis medicines can cross the placenta, exposing the baby to them. However, stopping an effective modulator may cause the mother’s health to deteriorate.
The evidence so far is reassuring, but there is still much to learn about long-term effects. Patients should not stop taking their medicines without advice from their care team. Decisions should be made with their cystic fibrosis and obstetric specialists.
Cystic fibrosis can also affect the pancreas and the body’s ability to regulate blood sugar. The guidance recommends an oral glucose tolerance test before pregnancy and additional testing during pregnancy.
Identifying high blood sugar early allows the care team to treat it and reduce the risk of complications, including high blood pressure, premature birth and the need for a caesarean section.
Breastfeeding and newborn screening
Breastfeeding requires additional calories, and maintaining adequate nutrition and weight has historically been difficult for many people with cystic fibrosis. As health and nutritional care improve, more women are able to breastfeed.
CFTR modulators pass into breast milk, however, so patients should discuss breastfeeding with their cystic fibrosis team and their baby’s doctor. Nutrition and weight also need close attention after delivery.
Treatment during pregnancy may create another consideration for the baby. Early research and case reports suggest that exposure to CFTR modulators in the womb may affect the signs used in newborn screening for cystic fibrosis.
As a result, standard screening may miss the condition in some exposed babies. Where there is a possibility that a baby has inherited cystic fibrosis, the care team may recommend genetic testing after birth rather than relying on newborn screening alone.
Fertility in men
While reproductive possibilities have changed considerably for women with cystic fibrosis, men continue to face a different challenge.
More than 95% of men with the condition cannot conceive naturally because they are born without the vas deferens, the tubes that carry sperm from the testes. Most still produce sperm, but it has no pathway out.
Men with cystic fibrosis who want biological children generally need sperm retrieval combined with assisted reproductive technology such as IVF.
CFTR modulators cannot restore a vas deferens that did not develop before birth. But because the medicines cross the placenta, researchers are exploring whether exposure during pregnancy could affect the development of male babies who have cystic fibrosis.
Several case reports have described boys with the condition who were exposed to modulators before birth and were born with intact vas deferens.
These reports are not large studies, and it is too early to know whether prenatal exposure could preserve fertility later in life. They do, however, raise questions about what may be possible for a future generation.
A changing conversation
The pace of change in cystic fibrosis care has been extraordinary. Reproductive health should no longer be an afterthought.
Questions that once centred on survival and daily health now increasingly include family planning, pregnancy and parenthood. Patients need these discussions to begin early and continue as their circumstances and wishes change.
The goal is to give people with cystic fibrosis the information and support to decide whether, when and how they want to become parents. – Newswise
Dr Raksha Jain is medical director of the Adult Cystic Fibrosis Programme and a professor of internal medicine in the Division of Pulmonary and Critical Care Medicine at UT Southwestern Medical Centre
