Preparing for Pregnancy

Health Status

The decision to build a family via pregnancy often requires women with CF to consider factors such as fertility, current health status, potential for complications, medication safety, fetal outcomes, and the prospect of managing parenthood with a chronic illness [see the Parenthood chapter in this guide for more information] [7]. 

Ultimately, the final decision to pursue pregnancy rests with the patient. However, three clinical parameters that can help ensure the best outcome for mother and baby include:

• Stable FEV1 of 50% or higher
• BMI 22 kg/m2 or higher
• Well-controlled blood sugar [8,9] 

Among these factors, lung function may be the most important [8]. However, pulmonary hypertension and cor pulmonale (right-sided heart failure due to pulmonary disease) are considered contraindications to pregnancy so consultation with a cardiologist may be needed to assess the patient [9]. Additionally, CF care teams may identify other specific risk factors to consider before determining whether pregnancy is advisable for a given patient. 

If both provider and patient determine that pregnancy is not the best decision for her, there are other family-building options to consider, including surrogacy, adoption, fostering, or deciding not to have children [see the Family Building chapter].

Genetic Counseling 

CF is an autosomal recessive disorder, which means a person will only develop CF if they inherit a faulty copy of the CFTR gene from each parent [8]. If a woman with CF’s partner does not carry a CFTR gene mutation, her child will be a carrier but will not have CF. If her partner does carry a mutation, there is a 50% chance the child will have CF [8].

There are more than 1,900 CFTR mutations, but some screenings only test for the most common mutations. Genomic sequencing is more comprehensive than common screenings. A provider may order it for better accuracy. Women and their partners should ask questions to understand the particular tests the provider orders if they undergo genetic and prenatal testing. They should also find out whether insurance will cover these testing options and include those expenses when calculating pregnancy costs.  

Unfortunately, there is limited information on current views about prenatal testing and genetic transmission among women with CF. For instance, in their systematic review, Gage et al cite two studies that highlight women’s concern about passing on CF genetic mutations as a key factor in their pregnancy decisions; knowing the risk of having a child with CF was a paramount concern. But these studies are either dated or have a very small sample size [12-14].  When planning for pregnancy, a CF specialist can refer the women with CF to a genetic counselor to provide guidance. S/he/they can also order carrier testing for the patient’s partner.

Pregnancy Loss & Pregnancy Termination

Existing research indicates that the rate of miscarriage in pre-transplant women with CF is either the same, or very slightly elevated, as compared to the general population [1]. Women who have undergone lung transplant (for cystic fibrosis or other reasons) have a higher rate of miscarriage compared to women in the general population who have not had lung transplants [18]. The emotional impact of miscarriage may be heightened in women with CF due to prior or ongoing mental health concerns related to having a chronic illness, fears about infertility, and familial or societal pressures to have children.

Approximately half of all pregnancies among women with CF are unplanned/unexpected; this may be increasing with the use of CFTR modulators [19]. Some women may choose to terminate an unplanned pregnancy for personal reasons, or for health reasons. Likewise, some women with CF terminate their planned pregnancies because of health concerns for the mother or the fetus. In the first trimester, termination can be done with medications like mifepristone™ and misoprostol™ or by an office uterine aspiration procedure. A dilation and evacuation (D&E) procedure can be used if the pregnancy is more advanced. There are no universal guidelines for providers for when a pregnancy should be terminated due to CF health concerns. The rate of pregnancy termination cited in studies ranges from 0% to 20%, but women likely underreport terminations due to stigma [9].

Labor & Delivery

Given their medical histories, complex treatment regimens, and increased risk for pregnancy complications, women with CF may devote extra time and attention to planning for labor, delivery, hospitalization, and even packing their hospital bag! Creating a birth plan can help ease anxiety associated with labor and delivery. The plan could include CF-specific considerations that will help doctors and nurses manage labor when treating a woman with CF. When giving birth at a hospital that is not associated with a CF center, it may be helpful to become familiar with the facility prior to giving birth. It is important to understand how labor and delivery can be coordinated with members of the CF team. For example, some facilities do not have access to CF specific medications. These facilities might also not be aware of cross infection protocols if complications occur. It is therefore prudent for the woman with CF to serve as a liaison between the birthing facility and the CF clinic.

While most women with CF have successful pregnancies and deliveries, both providers and patients should consider additional issues. First, some women with CF are at greater risk for preterm delivery and/or cesarean section, particularly those whose FEV1 is below 50-60%, whose health is unstable, or whose diabetes is poorly controlled [1, 9]. Second, overall, an estimated 10-25% of pregnant women with CF deliver early, either spontaneously or induced, due to declining maternal and/or fetal health [13]. Third, babies of mothers with CF are also at an increased risk for fetal growth restriction, particularly if these women have low lung function or require supplemental oxygen [20]. Women with CF should expect their OB/GYN to monitor the size and vitals of the baby closely, especially during the third trimester. Fourth, the use of anesthesia during labor could lead to complications, especially for those with a lower baseline FEV1 [15]. OB/GYN or MFM providers may arrange a consult with an obstetric anesthesiologist to help plan beginning in the second or third trimester. This consultation can provide the prospective mother with CF an opportunity to understand potential complications, assess the risks of anesthesia during labor, and formulate a birthing plan. Fifth, airway clearance during and after labor can be complicated. Generally, it is best to mobilize and resume respiratory treatments as soon as possible. What therapy will be performed, and the timing of treatments, will vary for each woman based on the treatment plan prescribed by the CF care team. Discussing this prior to delivery is crucial to maximize post-delivery lung function. Again, different facilities will have different therapy options; available modalities could impact the need to bring one’s equipment to the hospital from home. Sixth, the use of oxygen during labor and delivery is very common in women with severe pulmonary disease. Pain and anxiety during labor can lead to respiratory distress. Analgesics can help ease some of these symptoms along with bronchodilators, oxygen, or the use of a biPAP machine, especially in prolonged labor [15]. Clearly these are other considerations for a woman with CF based on pulmonary function and potential pulmonary distress.

Breastfeeding

The breastmilk of women with CF is generally safe and healthy for their babies, given the caveats described below. CF-specific considerations may factor into a woman’s decision on whether to breastfeed, for how long, and whether to supplement with formula:

• Nutrition: In order to maintain their weight, hydration, and milk supply while breastfeeding, women generally need to consume an extra 500 calories per day, and an additional 2 liters of fluids [15,22]. Some women with CF struggle with this.
• Medications: Many medications are excreted into breast milk, and some of these medications may pose risks to the baby’s health. Decisions about which medications are safe to continue may differ from pregnancy. A woman can work with her CF team and consult apps like LactMed to determine the best course of action.
• Prioritizing treatments and rest: Breastfeeding is demanding and some women with CF choose not to breastfeed or supplement breastfeeding with formula in order to ensure they have the time and energy needed to maintain their own health.

Social Support and Mental Health

Caring for a newborn can be exhausting. Because women with CF have demanding treatment regimens and face health challenges, they may find it especially difficult to get enough rest and to establish a new routine. Support from one’s partner, friends, and family members is crucial during this adjustment. Some mothers with CF find that having a child has a positive impact on their treatment adherence; some may experience the opposite, especially during the newborn period [see the Parenthood chapter].

Postpartum depression is not well studied in women with CF. Screening and early intervention are important for maintaining a new mother’s mental health. 

Monitoring and Maintaining Health

Depending on health status and any challenges experienced during pregnancy, a CF care team may want to closely monitor lung function, weight, and overall health during the postpartum period. The care team should ideally review and discuss postpartum contraception choices with the patient early in the pregnancy and no later than the third trimester. Given the challenges of pregnancy and caring for a newborn in women with CF, it is recommended to use contraception and avoid becoming pregnant again without proper planning. There are many methods of birth control that are safe to use during the postpartum period, even when breastfeeding [See the Contraception chapter].

Emotional Health and Wellbeing Surrounding Pregnancy

Before, during, and after pregnancy, women with CF may face fears, anxieties, and unresolved questions. The decision to become pregnant, and the impact of pregnancy and delivery, can be challenging both physically and emotionally. 

It is important to discuss these feelings with one’s partner and CF care team. It may be helpful to talk to a licenced therapist. In addition, there are a variety of sources available to women with CF through nonprofit organizations, local hospitals/CF clinics and on social media. Common concerns include: