Support of the pregnant mother and her partner is a critical element in the diagnosis and management of congenital heart disease (CHD) in the fetus. From the moment a woman/couple are identified as possibly having a fetus with CHD, to entering the fetal cardiology clinic, through the exam, prenatal counseling, subsequent visits, and the peripartum period, care providers have to be sensitive to and actively seek out ways to mitigate the stress experienced and provide accurate and sufficient information to ensure informed consent is achieved.
Probably the most important and overwhelming event for an affected family is the prenatal counseling at the time of diagnosis. Counseling is a complex process, involving a multidisciplinary team of people who should have an understanding of specific issues related to fetal as well as neonatal CHD. It sets the stage for the couple for making a decision regarding whether they will continue the pregnancy, a decision that will be remembered long after the patient has left the fetal program, and how the family will cope through the rest of the pregnancy and delivery of continued pregnancies. Accurate and empathetic counseling fosters truly informed decision making, improves doctor-patient relationships by developing trust, reducing misunderstandings and avoiding confusion, and ultimately optimizes outcomes by ensuring parents are prepared to care for the child.
Every family presents with variable experiences, cultural backgrounds, beliefs, education levels, coping mechanisms, and support systems as well as varying family and financial situations. These variables impact what they understand of the diagnosis, what they need to cope during this difficult time, and how they will make decisions. Other critical variables include the extent and accuracy of the information parents receive during this time and how that information is delivered. There are no widely accepted standards for fetal counseling for congenital heart disease and therefore physicians may receive little, or no, formal training in this area. Informed consent requires the patient (in this case the parent) to be properly informed; however, the few studies that have focused on counseling content have found great variability in the degree of information supplied. In addition, Murtuza et al. found that there was a marked inconsistency in the composition of the counseling team. A recent study found that the majority of physicians counsel parents alone, and the setting and duration of counseling varied significantly.
Providing adequate prenatal support for families requires an understanding of (1) what couples go through emotionally and psychologically, (2) the information and resources they require, (3) how best to relay that information so that it is understood, and (4) self-awareness on behalf of the counselor to limit bias. We discuss those issues below in addition to practical considerations for physicians and a suggested framework for presenting information to those receiving a prenatal diagnosis of CHD.
Psychological Impact of a Prenatal Diagnosis of Congenital Heart Disease
The diagnosis of fetal CHD is often devastating for parents. While reeling with grief for the loss of the healthy child they expected, parents must quickly learn medical terminology to understand the diagnosis and its potential impact on the child and family. Feelings of anger, shock, disbelief, fear, and guilt are common and have a major impact on parents’ ability to absorb information. For many, there is a sense of a loss of control and a fear of the unknown.
The process of undergoing fetal echocardiography, in and of itself, is associated with parental stress and anxiety, and for some women, depression, especially when the result is abnormal. In a minority of women, a prenatal diagnosis of CHD has an opposite effect, resulting in improved bonding and reduced anxiety.
Mothers and fathers respond differently to receiving a diagnosis of fetal CHD, with mothers experiencing significantly higher levels of stress and depression than fathers. Affected fathers are less anxious and more optimistic than those receiving a postnatal diagnosis. Mothers, however, are more likely to suffer a detrimental effect of a prenatal diagnosis—with high proportions of mothers having clinically significant levels of depression (22%), anxiety (31%), and traumatic stress (39%). This may be in part due to the mother’s constant awareness of the pregnancy with her body’s physiologic changes, the fetal movements, and constant comments and questions from well-meaning family, friends, and strangers about the pregnancy. Mothers may also be questioned about “what they did” to cause the heart condition, or feel inappropriate guilt for not having a healthy child. These psychological complications of a prenatal diagnosis tend to persist through the pregnancy and beyond and may also impair bonding between mother and baby, perhaps due to fears of attaching to a child who may not survive.
A fetal CHD diagnosis also has an impact on the couple’s relationship, with higher levels of partner dissatisfaction among affected women compared to couples carrying a healthy fetus. The diagnosis of a severe fetal abnormality and the decisions that need to be made as a result often prompt couples to take on parenting functions and begin the process of coparenting an earlier stage than usual. These early experiences of decision making, information gathering and sharing, and provision of emotional support for each other, set the scene for how coparenting takes place after birth.
Despite the significant emotional impact, parents are generally grateful for a prenatal diagnosis. Prenatal diagnosis of CHD affords opportunities for parental education regarding the diagnosis and likely outcome, options for pregnancy termination, planning for optimum timing and location of delivery, and the chance to make preparations for work and childcare after delivery. Affected couples have a better understanding of their newborn’s heart condition than those who receive a postnatal diagnosis prior to neonatal discharge. While overall, a prenatal diagnosis can be associated with worse outcomes than postnatal diagnosis (due to more severe disease, and associated extracardiac anomalies in the prenatal group), prenatal diagnosis has been shown, for selected conditions, to reduce mortality and morbidity with optimized perinatal and neonatal management.
Further study is required to identify factors that can reduce the detrimental effects of a prenatal CHD diagnosis on maternal psychological well-being, which can have important physiologic impacts on the developing fetus; however, we have identified some practical ways to mitigate the stress couples experience.
What Information Do Parents Want?
Accurate Information on the Diagnosis and Treatments
Prenatal support of the mother and family begins with provision of accurate information about the diagnosis and communication of all the treatment options available, including those offered at other hospitals. Knowledge of the content of counseling that pregnant mothers and their partners find most useful is important in planning the discussion.
Parents and physicians differ in their opinions of what is deemed important information to communicate at prenatal diagnosis and parents often want more information than physicians provide. Of high importance is accurate information on the diagnosis and surgical outcomes at different hospitals, which can vary dramatically. Parents are highly dependent on physicians for providing data, as most are not publicly available. Only the United Kingdom publishes surgical outcomes for all pediatric heart surgical centers throughout the region. In the United States, the Society for Thoracic Surgeons is now publishing limited outcomes data, based upon information voluntarily provided by some pediatric surgical centers.
Parents overwhelmingly want to be given appropriate hope, not to feel pressured in their decision making, and to seek opportunities to interact with other families that have been through similar experiences. Many parents want to receive information in writing and through diagrams, both to enhance their understanding, and provide a reference for themselves and for family and friends. (See Table 12.1 for selected quotes from parents.)
| Issue | Selected Quotes From Parents |
|---|---|
| Inaccurate information | I was told that my child had only a 10% chance of survival to 6 months of age and that life expectancy for someone with single-ventricle anatomy was no more than a couple of years. |
| Information limited to diagnosing or local hospital | It would also have been helpful to receive stats on the best hospitals and surgeons in the country for my son’s particular heart defect. Parents should know they have options. It shouldn’t be a given that you automatically go to the closest hospital/surgeon just because of proximity. Parents need to be given information, choices, and some control over their child’s care. |
| Information given only verbally | Having a written explanation and pictures explaining our daughter’s CHD would have been very helpful. I would like to have been shown a detailed model of the heart exhibiting her CHD I am a very visual person, and I had great difficulty in understanding her defects. The shock and stress only compounded the problem. |
| Using the term “Rare” to describe the incidence | Knowing that a lot of children have CHD. We had not heard of this before. |
| Connecting to others | Having another mom who had gone through this would have been great. I felt as if I was the only person in the world going through this with my child. I had never even heard of CHD. |
| Physician beliefs and biases | The first cardiologist we saw told us we were selfish if we allowed our son to live with HLHS because he wouldn’t be accepted by society. |
| Compassion and empathy | The first surgeon/cardiologist could have spoken to us with compassion and understanding instead of telling us to take her home to die, but not to worry—you can always have more (children). |
| Optimism | I was taught to prepare for her death. No one prepared me for what she would be like if she survived. |
| Hope | Give appropriate hope. We were given little hope from the cardiologist that diagnosed us. When we spoke to others and learned of the children living with HLHS, we felt there was no reason to terminate. However, just talking to the doctor, you’d think there was not chance of that. |
| Religious or ethical beliefs regarding termination | If a parent says termination is not an option based on personal and religious convictions, that’s that. It should not be mentioned again. |
| Termination as an option, along with treatments | The first option that was presented to us was abortion. I found this to be disgusting. We were not told until 40 minutes into the discussion about how our child would have “no quality of life” that there were surgical treatment options with decent success rates. Physicians who feel they need to present abortion or “compassionate care” as an option need to do so after they have told concerned parents that there are treatment options and that there are plenty of people (who are) alive and thrive with CHD. |
Parents may not realize that prenatal diagnoses are not always definitive and should be made aware of the limitations of a fetal diagnosis including potential lesions that may importantly impact clinical outcomes after birth. In one center’s experience in France, Bensemlali et al. found that the discordance between expert fetal diagnosis and the final diagnosis after birth led to significant changes in neonatal treatment in 11% of cases. In cases with a fetal autopsy following termination of pregnancy, 9% had a totally different diagnosis than the prenatal diagnosis and 14% had major differences from the prenatal diagnosis. A multicenter study in The Netherlands reported similar findings where there was no similarity between pre- and postdiagnosis in 8% of cases. Physicians should inform parents if they are uncertain of a diagnosis and offer a second opinion where appropriate.
Projections and Definitions of Quality of Life
Parents are generally more focused on quality of life (QOL) and are less interested in the specific anatomic diagnosis. The physician giving information on QOL should be aware that there are differences between how physicians view QOL in patients with CHD compared with the patients and their families, with physicians frequently both overestimating and underestimating QOL as quantified by children with CHD and their parents.
Marino et al. found that physicians’ definitions of QOL included more negative descriptors that were associated with medical procedures and hospital stays. Parents and the adolescents with CHD viewed QOL in broader terms, including non-health–related factors, and even included positive descriptors of having CHD. One study found poor reliability for predicting patient and parent-proxy reported Health-Related Quality of Life among physicians and nurses who routinely care for cardiac patients. This was true for all five of the clinician groups in the study: intensive care physicians; outpatient cardiologists; and intensive care, outpatient, and advanced practice nurses. The study concluded that clinicians may not make accurate assumptions regarding Health-Related Quality of Life in patients later in life.
Arya et al. found that physicians and parents rated surviving into adulthood as important, but parents also rated survival into early childhood important when considering termination. A similar study found that physicians place more importance on the value of future years of survival rather than on shorter term survival, which may conflict with parents’ views.
Information on Termination
In around 70 countries worldwide, termination of pregnancy for fetal anomalies (such as CHD) in the second trimester is legal. In these countries, couples receiving a prenatal diagnosis have the added option (and burden) of considering termination of their wanted pregnancy and often have only weeks or days to make the decision. It is apparent that decision making when choosing whether or not to opt for pregnancy termination is much more complex than simply that of considering CHD severity. This often time-pressured decision is highly dependent on the parents’ religious and ethical views as well as their perceptions and understanding of the medical diagnosis, the predicted short- and long-term prognosis, and the child’s expected QOL. A multicenter study in France found that the important factors in parent decision making regarding termination were: gestational age at diagnosis, ethnicity, a chromosomal anomaly, and severity of the CHD. Termination of pregnancy rates vary considerably by country, with published termination rates for single ventricle anomalies ranging from 12% in the United States to 79% in some parts of Europe. This may be due to timing of prenatal diagnosis and applicable laws on termination, in addition to cultural and religious views regarding termination. Past reproductive experiences including need for assisted reproduction and multiple pregnancy losses may also impact decisions regarding pregnancy continuation.
When termination of pregnancy is not a legal option, couples will sometimes choose to travel to an area where it is legal or are obliged to continue with the pregnancy. The focus of fetal counseling in these countries, and in pregnancies where the couple decline termination, must switch to providing information, support, and planning for neonatal management. The upper gestational age at which termination of pregnancy is legal also varies widely, which may alter the urgency with which couples must receive and process information.
How Physicians Relay Information Impacts What Is Heard and Understood by Parents
Written Information and Resources
The fetal cardiology team can ameliorate these feelings of powerlessness through the provision of accurate information given in terms that can be understood by the couple, encouraging questions and empowering families to obtain further information from other sources (such as leaflets, reliable websites, and through introductions to other families with similar experiences). Providing information in the parent’s native language may help improve understanding ( Box 12.1 ).
Diagnosis and Treatment Information
American Heart Association
About Congenital Heart Defects: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/About-Congenital-Heart-Defects_UCM_001217_Article.jsp (English, Spanish, Chinese, Vietnamese)
Cove Point Foundation, Helen B. Taussig Children’s Heart Center, Johns Hopkins University
Interactive diagrams showing the normal heart vs. multiple congenital heart defects, tests, and surgical procedures: http://www.pted.org (English, Spanish)
Centers for Disease Control and Prevention
Congenital Heart Defect Information: https://www.cdc.gov/ncbddd/heartdefects/index.html (English, Spanish)
Parent Information
Congenital Heart Defect Resources
Parent resources including questions to ask, and handouts and forms for emergencies, hospital stays, and school issues: http://www.CHDResources.org
Parent Center Hub
Explanations of developmental delays, Early Intervention Services, and Individualized Education Plans: http://www.parentcenterhub.org/ei-overview/
Resources in Spanish: http://www.parentcenterhub.org/tools-for-spanish-speaking-parents/
Little Hearts Matter
Information and support for single ventricle patients in the United Kingdom: https://www.lhm.org.uk/
Publicly Reported Outcomes Data
National Institute for Cardiovascular Outcomes Research
Surgical outcomes data for pediatric heart surgical centers in the United Kingdom: https://nicor4.nicor.org.uk/chd/an_paeds.nsf/vwcontent/home
Society of Thoracic Surgeons (Sts) Public Reporting Online
Voluntary outcomes data from participating centers in the STS Congenital Heart Surgery Database in the United States: http://publicreporting.sts.org/chsd
Many couples use the Internet, social media, and support groups to gather information, gain support, and feel less isolated. The fear of not remembering the important and often complex details covered in the initial consultation can be assuaged through the provision of diagrams, leaflets, and scan reports to help the couple to digest information, understand their baby’s condition, communicate details to family members, and make couples feel able to make informed decisions.
Avoiding Ambiguous Terms
A survey of 841 parents gives unprecedented insight on how they interpreted the information received from physicians at diagnosis, how they viewed the physicians’ demeanor, and the reasons why many sought second opinions. Counselors should understand that certain terms can lead to misunderstanding. For example, parents in the United States were found to often interpret the term “rare” as meaning that their child is unlikely to survive and that there are few or no other families with which to connect. We recommend that if one uses such a term, it is important to qualify it with a statement such as “because we work in a specialist referral center, we see x number of similar cases per year, operate on x number, and would expect x proportion to survive.” Volume and survival rates for other experienced centers should also be given to the family for a frame of reference, if it would be financially and practically viable for the couple to choose for care to be transferred. Misinterpretations of terminology may vary depending on the country, language, and/or cultural background of the parents. Counselors need to be cognizant of the potential for misunderstandings and not utilize ambiguous or confusing terminology.
Physician Demeanor
If the gestational age is appropriate for offering pregnancy termination for significant CHD, it should be offered; however, some parents feel that when the physician discusses the option of termination of pregnancy, they are being pressured to choose this route or that it is being recommended. Hilton-Kamm found that feeling pressured to terminate the pregnancy was associated with the physician’s repeated mention of termination after parents stated they declined to terminate. This study also found that parents sought second opinions if they viewed the physician as not being knowledgeable on the diagnosis, or not compassionate. In one study based in the United States, the majority of those who sought second opinions continued care with the second cardiologist. It is important to be aware of these issues and to clarify the parents’ comprehension regularly during a counseling session in order to avoid misunderstandings. Couples should be given nondirective counseling in order to make the best decision for their unique social, cultural, and religious situations.
Counselor Self-Awareness Is Required to Limit Bias
Evidence suggests that counselors do not provide unbiased information—Kon et al. found that physician recommendations for hypoplastic left heart syndrome (HLHS) management were based on what the physicians’ affiliated hospital provided, even if they believed that higher survival rates would be achieved with a different procedure. Physicians must also be aware of the surgical/interventional outcomes in their own center and results and alternative treatment strategies available in other centers accessible to the patient and openly provide this information to parents.
The experience of the counselor may bias how information is presented. Kon et al. found that surgeons, intensivists, and cardiologists are more likely to recommend surgical options over comfort care compared with neonatologists at the same facility. The team approach to counseling may be more balanced than counseling by a single individual.
It is important that the counselor is aware that the parent may have very different views to him/her, including religion, background, education, and family circumstances, among other factors that will influence decision making. Arya et al. found that 54% of parents opposed termination for religious or moral reasons, while only 2% of physicians opposed termination for the same reasons. Almost half of physicians and nurses surveyed stated they would terminate the pregnancy if their child was prenatally diagnosed with HLHS. These predictions of termination by medical personnel are higher than the published termination rates for HLHS. The physician’s personal opinion of pregnancy termination and whether they think they would choose termination of pregnancy if in a similar situation are hypothetical, related to their personal circumstances, and cannot be extrapolated to or be allowed to influence the couple being counseled. Conversely, if a physician is not comfortable with counseling regarding termination for major CHD, he/she might arrange for such counseling by another. Acknowledging parents’ autonomy can make couples feel that their opinions and decisions are being respected and allow for true informed consent.
Physicians must also be aware of their own views regarding neurodevelopmental delay (NDD) for patients with CHD. In an international study of physicians, Paladini et al. found that approximately half of physicians discussed the association of NDD and CHD with parents regardless of the type of CHD, while 32% discussed this association in selected cases. The majority of respondents were aware of the association between NDD and CHD; however, there was a large geographic difference in physicians’ prenatal counseling. In North America, 92% of physicians reported discussing the risk of NDD regardless of the type of CHD, while 42% of physicians in Europe, and 22% in Asia did the same. The authors note that it is of interest that despite the North American physicians reporting discussing NDD much more frequently, the termination of pregnancy rates in that geographic region are significantly lower than in Europe and Asia.
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