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Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart disease
Early Human Development (2005) 81, 601 — 607
www.elsevier.com/locate/earlhumdev
Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart diseaseB Samuel Menahema,T, James Grimwadeb a
Paediatric Cardiology, Units, Monash Medical Centre, Melbourne, Australia Ultrasound (O&G), Units, Monash Medical Centre, Melbourne, Australia
b
Accepted 9 February 2005
KEYWORDS Counselling; Prenatal diagnosis; Severe heart disease
Abstract The prenatal diagnosis of a major cardiac abnormality tends to precipitate a crisis for the affected parents. In a setting of grief and emotional distress, there is the challenge to provide meaningful information of the abnormality, its need for intervention and likely outcome, so as to enable the parents, if allowed the option, to come to a fully informed decision as to whether to continue with the pregnancy. This discussion paper reviews the difficulties encountered in counselling affected parents being mindful of the psychological constraints prevalent at the time. While an accurate and detailed diagnosis is important for the professionals, the information required by the parents needs to be simple and focussed on the questions raised by them as they relate to quality of life issues to be experienced by their yet unborn infant/child growing into an adult. D 2005 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Counselling for parents has become increasingly important as more fetal abnormalities are picked up prenatally. Such abnormalities may be discov-
B Presented in part to the 11th World Congress on Ultrasound in Obstetrics and Gynaecology, October 2001. T Corresponding author. Monash University Heart and Chest Research Institute, Department of Psychological Medicine, Monash University, Monash Medical Centre, 246 Clayton Road, Clayton 3168, Victoria, Australia. Tel.: +61 613 9594 2242; fax: +61 613 9594 6239. E-mail address: [email protected] (S. Menahem).
ered on routine screening [1—3] or specifically looked for if there is a family history of an inherited or familial disorder—for example thalasaemia major, cleft lip, etc. [3]. Each abnormality, whether minor or severe, is of special significance to the affected parents and family and may precipitate a crisis [4] or lead to long-term difficulties [5]. In part, that special significance resonates with the previous life experiences of those involved. However, the severity of the crisis depends not only on the nature of the abnormality, but also upon its seriousness and whether it is bcorrectableQ. An abnormality of the heart has special significance to the parents. Not only is there reality to
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602 the common held belief that a bad heart bkillsQ, but there is also the perception that anything wrong with the heart is serious [6]. How much more so, if that occurs in so small and vulnerable a fetus. In a recent survey conducted on 39 successive patients seen in a private setting over a 3 year period, and specifically referred because of a significant cardiac abnormality, where the presence of a major cardiac abnormality was confirmed, more than 70% of the respondents reported themselves as being very distressed, or distressed, when a major heart abnormality was confirmed in the fetus [7]. This finding raises the question as to how meaningful is any attempt to provide specialised information and/or a detailed understanding of the heart abnormality to the parents at this stressful time. A similar observation was previously noted in a survey of parents who had a major cardiac abnormality diagnosed in their infant [6]. The bshockQ experienced by the parents at the time resulted in them bblocking outQ the information that was being provided—bI just could not listenQ [7]. This paper highlights some of the difficulties encountered in counselling affected parents and how they may be addressed. It also briefly describes our approach of having a paediatric cardiologist and obstetric ultrasonologist working together, with quotations from many of our patients.
2. Diagnosis 2.1. Immediate impact The diagnosis of a major cardiac abnormality, although possible early in the second trimester using a transvaginal approach [8,9], is generally not made until approximately the 16th to 20th week of gestation [10]. Quickening or fetal movements may have been felt by then [3]. The fetus is well formed, with all its important features readily demonstrable on an ultrasound and usually viewed on the monitor by the concerned parents. One father observed, bMy wife loved the baby so many months and worked hard to keep it, to find out things are not right—It is difficult beyond beliefQ [7]. The initial excitement experienced by the parents on seeing their unborn baby evaporates when they are unexpectedly informed that the baby has an abnormality, that there is something wrong with its heart. Mixed with the awakening grief [5,11], there is often denial and disbelief, suppressed or overt anger and an attempt to question your expertise [12—16]. A perfect baby
S. Menahem, J. Grimwade had been sought and not one with a bad heart—bOur grief was enormousQ [7]. To that grief is added the shock of the diagnosis—bI was shocked emotionally, therefore lots of the details and explanation were not absorbedQ—bI was only prepared to listen to what I wanted toQ. To that shock may be added denial—bI just wanted to block it outQ. There is added guilt and shame, bWhat did I do wrong?Q. There is also a feeling of sadness and being alone— bI felt very aloneQ—bI felt helpless and powerlessQ [16]. Wishful thinking or bargaining for a breprieveQ may then intervene. These intense feelings may occur sequentially or together, confounding any attempt at imparting the knowledge upon which to anchor any counselling [17].
2.2. Accuracy of diagnosis For any counselling to be credible, there is a need to be competent at arriving at a correct and, as complete a diagnosis, as to the cardiac abnormality. If the heart is examined as part of a general screening of a low risk population, detection rates vary from 5 to 45% [18—21]. If done by an experienced cardiac ultrasonologist, the detection rate reaches 100% [22—24]. It is equally important for an abnormality not to be diagnosed when one is not there, as this may lead to tragic termination of the pregnancy. However, there are limitations in that that diagnosis of an atrial septal defect or a persistent patent ductus arteriosus cannot be excluded by a foetal study. At the same time, certain lesions evolve during the pregnancy such as a hypoplastic left or right ventricle making the need for follow-up scans if the possibility of such diagnoses is being considered.
3. Decisions to be made Once a significant heart abnormality is found in the fetus, two questions need to be answered: (1) whether the pregnancy will be continued with and if so (2) where should the mother be confined.
3.1. Continuation of the pregnancy This question is relevant if the diagnosis is made before 22 weeks [3]. Between 22 and 24 weeks at least in Melbourne, a multidisciplinary hospital committee needs to review the decision, while after 24 weeks gestation, few if any would attempt termination. There is some urgency, if the initial scan suggested a significant abnormality, to have that abnormality confirmed by an
Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart disease 603 experienced operator at a recognised centre. bThe natural grieving process is truncated by the superseding clockQ [25]. What then goes into the decision-making? Previous experience has demonstrated that parents are particularly concerned, not so much about the detail of the abnormality, but rather about specific issues relating to the pregnancy and perinatal care, and the subsequent impact on the well-being of the infant/child/adolescent even extending to the adult. The questions that are commonly asked include, bWill the baby die during the pregnancy?Q—bHow should the baby be delivered?Q—bWill I be able to hold the baby when born?Q—bWill he or she be placed in oxygen or on a respirator and rushed to the operating theatre?Q— bWill I be able to feed the baby, take her home, or will he require continued hospitalisation awaiting the next surgical procedure?Q—bWill the infant be retarded if he remains blue?Q—bWill my child be able to attend kindergarten, go to school, run around, play sport, etcQ. bWill he/she be able to marry, have children?Q The questions relate not as much to the detail of the abnormality, but rather to its consequences, the results of interventions if required, and the ultimate outcome. The position of a ventricular septal defect, the so-called hole in the heart, or whether there is pulmonary atresia/ventricular septal defect or Fallot’s tetralogy with forward flow (a large hole in the heart with obstructed flow to the lungs), although important to the cardiologists and cardiac surgeons, appear less so to the parents. While there is a wide range of serious cardiac abnormalities detected prenatally, the issues relating to counselling parents are essentially the same. However, it is helpful for the parents to know if, for example, necessary surgery carries a small risk with a resultant bcureQ, as for example closure of a big hole in the heart (ventricular septal defect) or correction of the great vessels which arise from the opposite pump (transposition of the great vessels). Parents may be less inclined to continue with a pregnancy if the necessary intervention results only in palliation with the need for further surgery as for example in a univentricular heart (presence of only one pumping chamber). Nevertheless, in both situations, parents mourn the loss of a healthy child [25]. Termination of a wanted pregnancy is a bwrenching decisionQ for the parents to make [25], and it is often experienced as a death of a child [26]. That decision is often influenced if an additional major abnormality is found in the fetus, the most important being that of a chromosomal
abnormality [25]. In our review of a cohort of 39, all of whom had karotyping done, 3 of the 13 patients who opted for termination, had an additional abnormal karotype. However, not all patients chose termination, even though a chromosomal abnormality was found [27]. Some parents, because of their religious or cultural background, will refuse termination. The decision to terminate may be based on the perception of pain or distress that the parents consider their baby will experience as a result of the abnormality, its consequences and the need for intervention, the pain and distress experienced by the siblings and by the pain and distress experienced by themselves [27]. The degree and importance of each contribution vary from one family to the next—bMy son’s future will not be fulfilling—in and out of hospital for the rest of his lifeQ—bNo reasonable chance of help—can be offered surgery, but not necessarily an outcomeQ— bWe wanted to protect the interests of our first childQ—bCouldn’t go through the trauma of risking losing a child, once having been born and operated onQ—bWe are concerned about our ability to cope with the baby and young child and concerned of likelihood of intellectual disabilityQ [7,27]. Empathic and non-directive techniques may be used to help parents reach an informed decision concerning termination [25,28,29], and may include reflective questioning, reframing, and even role play as suggested by Kessler [30]. The parents may find it difficult to understand that, even if a cardiac abnormality is complex, the fetus seems unaffected because of the obligatory mixing that occurs in the fetal circulation. Nevertheless, certain abnormalities may lead to fetal death. For example, increasing cardiac size with resultant lung compression may occur in an Ebstein anomaly of the tricuspid valve (inlet valve of the right pump) and severe incompetence or leak of the valve resulting in an enlarging right atrium (collecting chamber). A persistent tachyarrhythmia (abnormal fast rate) or a slow complete heart block may lead to cardiac failure and the development of a pericardial effusion (fluid around the heart). In such circumstances, the parents may decide not to terminate the pregnancy, as the fetus may not survive. 3.1.1. Physician’s role It is important to provide an accurate and as complete a diagnosis as possible to the parents, particularly as it relates to function and outcome. Some choose to grade the severity of the abnormality from 1 to 10 [28] to help the parents get some understanding of the seriousness of the problem. Of greater importance is the patho-
604 physiology or abnormal function of the lesion, the factors that will determine the need for immediate and late intervention, their outcome, and the quality of life that may ensue. This approach is particularly relevant where the diagnosis is complex (see Appendix A). Specially trained genetic counsellors may effectively undertake this role utilizing their understanding of the common threads arising from the prenatal diagnosis of a congenital abnormality. They may explore its etiology, address the psychosocial needs of the grieving couple, discuss the option of termination, and assess recurring risk [25]. However, there is an acceptance that the genetic counsellor contributes to the medical team, who have the detailed knowledge of the condition under consideration [25]. Welch and Brown [25] nevertheless suggest that bthe effective principles of genetic counselling can be applied to patient care by all those on the medical teamQ, a view we support. 3.1.2. Counselling There are many models of counselling. It has, and may be done, by the obstetrician, or ultrasonologist, paediatric cardiologist, neonatologist, geneticist, family doctor, or other professionals [28,31,32]. The counselling may be done by the one professional, or two or more professionals at the one time, reflecting local practice, experience, and resources, each with its own benefits and drawbacks as discussed in Campbell’s review [32]. 3.1.3. Our approach Over the years we have evolved an approach working together, which we believe helps deal with some of the issues raised. The counselling wherever possible is conducted with both parents present. The paediatric cardiologist is regarded as the bexpertQ, describing the cardiac anomaly and its functional significance. The obstetric ultrasonologist, who is able to give an expert opinion on the wellbeing of the fetus, ensures that the explanation of the heart abnormality is simple, in terms that the parents understand, highlighting the quality of life issues, survival of the infant, the need for interventions, and their risks. At times we may have uncertainties of diagnosis and/or outcomes and that is made known to the parents which further compounds the process (see example 3). Nevertheless, there is a need to make known not only the best possible outcomes but also the worst possible outcomes in prenatal diagnoses where there is still an option of termination. In contrast in postnatal diagnoses, best possible outcomes are emphasised as termination is not an option. Then only an encouraging approach is given unless there
S. Menahem, J. Grimwade is a considered decision not to continue with active treatment. In our cohort 39 patients, all with serious cardiac abnormalities, 70% of the 33 respondents to a postnatal questionnaire perceived that the explanations were clear or very clear, while 85% considered the detail given was bjust rightQ [7]. And that was in a setting where 70% of the respondents considered themselves very distressed or distressed at the time [7]. The understanding improved to 80% with subsequent scans. This improved understanding may be related to the parents having time to deal with their initial grief and shock [6], and an opportunity to assimilate what is wrong with their baby. Subsequent scans, in selected subjects, in addition to confirming the anatomy helped ensure that there had not been a progression of the lesion, as for example might occur with decreasing function of a ventricle, or the development of a pericardial effusion in a fetus with a malignant arrhythmia, or further discrepancy of the size of the ventricles with the development of a hypoplastic ventricle when there is a stenotic (narrowed) outlet valve [33]. Of interest, despite most the parents surveyed seemed to be satisfied with the above approach, many subsequently felt that additional literature may have helped their understanding of the abnormality. Detailed diagrams are now provided wherever possible aided by a brief summary of the diagnosis and planned intervention. While considerable information is available on the internet, it maybe overwhelming and confusing. Heartkids, Victoria is a support group available for our parents and has been used to advantage on many occasions especially where the prospective parents wished to meet and speak with parents who have a child with a similar abnormality who have gone through successful surgery. The attending obstetrician need know the diagnosis and anticipated management plan, and that is provided in our practice by the obstetric ultrasonologist. The family physician, can also be very helpful in supporting the family. A referral to a geneticist becomes important if there is a chromosomal abnormality e.g. a 22q deletion, or a neonatologist if the fetus has an associated anomaly e.g. arthrogyposis (deformed limbs). At times, parents may wish to see a cardiac surgeon to discuss outcomes, or the use of blood if the parents are Jehovah Witnesses. Counselling tends to be non-directive [25,28,31, 34,35]. However, the doctor is frequently asked bwhat would you do?Q. To answer that directly is problematic, in that the answers differ from one professional to the other. An ongoing request for more and more detail of the abnormality may be a
Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart disease 605 coping response of the parents to avoid the grief being experienced [6], though there may be a need for many parents to receive all the information gathered [25]. The style or affect of those involved in counselling may have a profound influence on the parents. bYou look worried DoctorQ [6] may reflect the seriousness of the abnormality diagnosed and need not be bhiddenQ from the parents. However, self-awareness and understanding of these issues by those providing such counselling may help the outcome. In practice, it soon becomes apparent the direction the parents is tending, when such comments are made—bIt would not be fair for our other childQ—bIf we have a sick baby all the time, how will my husband get off to workQ or bI worry about my wife. What is she going to do with baby going in and out of hospital all the time?Q [27]. Of interest, most of the 13 patients in our cohort who terminated, felt that the explanations given were very clear, but usually found it either very difficult to decide whether to continue or not with the pregnancy. Of importance, 2 of the 13 who terminated, refused to send a reply, one still apparently angry. There is a need although seldom done, for ongoing contact with parents who terminate [36].
3.2. Where to plan delivery? If the abnormality is duct dependent, as for example a severe Fallot tetralogy with inadequate pulmonary (lung) blood flow or alternatively critical aortic valve stenosis with inadequate systemic (body) flow, or transposition of the great vessels with inadequate mixing [37], it is best for the baby to be delivered at a centre where neonatal intensive care facilities are available [33,38]. A prostaglandin E1 infusion can be commenced [39], to keep the duct (communication between the great arteries) open, the baby stabilised and, if need be, ventilated in preparation for surgery, if available at that centre, or transferred to a surgical centre. The importance of confirming the anatomy with an urgent and detailed echocardiogram once the baby is delivered, cannot be over-emphasised. Such confirmation provides reassurance and, strangely enough, relief to the parents that the fetal diagnosis was correct, that the doctors were brightQ, and that it is now possible to proceed as planned. bThat is what you told us beforeQ. That finding has been borne out by anecdotal evidence. Infants with tachyarrhythmias especially if there is ongoing cardiac failure and hydrops fetalis are also best delivered at a major centre with neonatal intensive care facilities as improvement is slow,
despite termination of the tachycardia. On the other hand, lesions that result in a left to right shunt will allow the baby to be delivered at the parent’s/obstetrician’s centre of choice. The infant will generally not get into difficulty until the pulmonary vascular resistance drops as the lungs bopen upQ, with an increase in the left to right shunt. That usually takes about 2 to 3 weeks to occur. Such lesions include a large ventricular septal defect, an atrio-ventricular septal defect (AV canal—a large hole in the centre of the heart), a truncus arteriosus (single trunk arising from both pumps), etc.
4. Practice implications and conclusions It is important that there is an accurate and detailed diagnosis of the fetal cardiac abnormality wherever possible. Such a diagnosis need be made as early as possible in the second trimester, to allow the parents as much time to reach a decision about continuation of the pregnancy. To assimilate the knowledge and implications of the diagnosis, counselling need be in simple terms, emphasising function and quality of life issues, aided by the supplementary written information. Our approach has been to work together, an obstetric ultrasonologist and paediatric cardiologist each bringing their own expertise to the counselling. Further scans may be very helpful and become essential if termination is contemplated. It is important to exclude other major congenital and chromosomal abnormalities. It is also important to involve the attending obstetrician and family physician and other specialists where indicated. Delivery at a tertiary centre is required, if the cardiac lesion is duct dependent or if cardiac or pulmonary function is compromised. Finally, it maybe helpful to encourage parents to return if the pregnancy is terminated, to deal with unresolved guilt, anger, etc. If parents are counselled well, anecdotal evidence seems to indicate that following confirmation of the diagnosis shortly after birth, the parents, particularly the mother, seem to handle the baby well, facilitating bonding. As one mother remarked, bWe coped with Kylie (who had Fallot’s tetralogy and a 22q deletion) better than with our previous daughter who had a cleft palateQ. Two parents from our cohort forwarded photographs of their children and wrote bWe couldn’t imagine life without herQ, and bWe wouldn’t have him any other wayQ. The lessons learnt from this experience may generalize to other major abnormalities diagnosed prenatally.
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Appendix A A.1. Example 1—Correctable abnormality, good outcome Luke was diagnosed in utero as having transposition of the great vessels with an intact ventricular septum. Following an early balloon atrial septostomy to facilitate mixing, corrective surgery is performed at 1—2 weeks of age, the great vessels being reversed to the anatomically correct position. There is a mortality (at least in Melbourne) of the order of 1—2%. The long-term outlook is excellent. The need for repeat surgery is about 5%. Luke will require follow-up at increasing intervals, with a probable normal life span. The parents opted for continuation of the pregnancy.
A.2. Example 2—Palliative surgery, poor outcome In contrast, Mrs. A had a fetus with a hypoplastic left heart syndrome (absent left pump). Without surgery, the infant will die. With surgery—a Norwood Stage 1, there is an initial mortality of the order of 30—40%. There is a subsequent need for close observation and/or hospitalisation until the carrying out of a bidirectional caval pulmonary shunt (half Fontan)—main vein from upper body to right lung vessel, at approximately 3 months of age, followed by the completion of the Fontan—main vein from lower part of body to right lung vessel, 3 to 5 years later. Both latter procedures carry a mortality of 2—3%, there being the need for further hospitalisation, cardiac catheterisation, etc. To that is added the uncertainty as to whether the systemic right ventricle will ultimately fail and, if it does, the only option would be a cardiac transplant, with all the problems that go with it. Mrs. A opted for termination.
A.3. Example 3—Palliative surgery, uncertain outcome Joshua had a complex cardiac abnormality diagnosed in utero. There was both atrio-ventricular and ventriculo-arterial discordance, or so-called corrected transposition (main pump reversed). There was a large inlet VSD, severe pulmonary stenosis or atresia, and a small right ventricle from which arose the aorta. While the ventricular function appeared normal and there was no AV (inlet) valve incompetence, it was likely that the infant would be duct dependent, with the need for a prostaglandin E1
S. Menahem, J. Grimwade infusion during the newborn period, followed by an aortopulmonary shunt (modified right Blalock Taussig shunt)—tube from right arm artery to right lung artery. The uncertainty then was whether Joshua would be able to have a two pump repair, that is connecting the left ventricle via the VSD to the ascending aorta and placing a conduit (tube) from the right ventricle to the pulmonary arteries. At the same time, there would be the need to carry out a Senning inflow diversion, that is redirecting the systemic venous blood to the right ventricle, and redirecting the pulmonary venous blood to the left ventricle. Theoretically feasible, but with a high morbidity and mortality. There was also the problem of a smallish right ventricle and its adequacy to accommodate the pulmonary circuit. The alternative approach was to carry out a less risky but palliative Fontan procedure, with both ventricles ejecting into the ascending aorta and returning the desaturated blood directly to the pulmonary arteries. How much of the above would these very distressed patients, understand and then be able to decide what is in the best interests of their baby, their other children, and own well-being, when the doctors themselves were uncertain of the optimal management and outcome. The parents nevertheless opted to continue the pregnancy once the chromosomes proved normal. Joshua is doing well following his initial shunt and subsequent bidirectional caval pulmonary shunt. It was considered that the right ventricle was too small for a two pump repair.
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Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart diseaseB Samuel Menahema,T, James Grimwadeb a
Paediatric Cardiology, Units, Monash Medical Centre, Melbourne, Australia Ultrasound (O&G), Units, Monash Medical Centre, Melbourne, Australia
b
Accepted 9 February 2005
KEYWORDS Counselling; Prenatal diagnosis; Severe heart disease
Abstract The prenatal diagnosis of a major cardiac abnormality tends to precipitate a crisis for the affected parents. In a setting of grief and emotional distress, there is the challenge to provide meaningful information of the abnormality, its need for intervention and likely outcome, so as to enable the parents, if allowed the option, to come to a fully informed decision as to whether to continue with the pregnancy. This discussion paper reviews the difficulties encountered in counselling affected parents being mindful of the psychological constraints prevalent at the time. While an accurate and detailed diagnosis is important for the professionals, the information required by the parents needs to be simple and focussed on the questions raised by them as they relate to quality of life issues to be experienced by their yet unborn infant/child growing into an adult. D 2005 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Counselling for parents has become increasingly important as more fetal abnormalities are picked up prenatally. Such abnormalities may be discov-
B Presented in part to the 11th World Congress on Ultrasound in Obstetrics and Gynaecology, October 2001. T Corresponding author. Monash University Heart and Chest Research Institute, Department of Psychological Medicine, Monash University, Monash Medical Centre, 246 Clayton Road, Clayton 3168, Victoria, Australia. Tel.: +61 613 9594 2242; fax: +61 613 9594 6239. E-mail address: [email protected] (S. Menahem).
ered on routine screening [1—3] or specifically looked for if there is a family history of an inherited or familial disorder—for example thalasaemia major, cleft lip, etc. [3]. Each abnormality, whether minor or severe, is of special significance to the affected parents and family and may precipitate a crisis [4] or lead to long-term difficulties [5]. In part, that special significance resonates with the previous life experiences of those involved. However, the severity of the crisis depends not only on the nature of the abnormality, but also upon its seriousness and whether it is bcorrectableQ. An abnormality of the heart has special significance to the parents. Not only is there reality to
0378-3782/$ - see front matter D 2005 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.earlhumdev.2005.02.001
602 the common held belief that a bad heart bkillsQ, but there is also the perception that anything wrong with the heart is serious [6]. How much more so, if that occurs in so small and vulnerable a fetus. In a recent survey conducted on 39 successive patients seen in a private setting over a 3 year period, and specifically referred because of a significant cardiac abnormality, where the presence of a major cardiac abnormality was confirmed, more than 70% of the respondents reported themselves as being very distressed, or distressed, when a major heart abnormality was confirmed in the fetus [7]. This finding raises the question as to how meaningful is any attempt to provide specialised information and/or a detailed understanding of the heart abnormality to the parents at this stressful time. A similar observation was previously noted in a survey of parents who had a major cardiac abnormality diagnosed in their infant [6]. The bshockQ experienced by the parents at the time resulted in them bblocking outQ the information that was being provided—bI just could not listenQ [7]. This paper highlights some of the difficulties encountered in counselling affected parents and how they may be addressed. It also briefly describes our approach of having a paediatric cardiologist and obstetric ultrasonologist working together, with quotations from many of our patients.
2. Diagnosis 2.1. Immediate impact The diagnosis of a major cardiac abnormality, although possible early in the second trimester using a transvaginal approach [8,9], is generally not made until approximately the 16th to 20th week of gestation [10]. Quickening or fetal movements may have been felt by then [3]. The fetus is well formed, with all its important features readily demonstrable on an ultrasound and usually viewed on the monitor by the concerned parents. One father observed, bMy wife loved the baby so many months and worked hard to keep it, to find out things are not right—It is difficult beyond beliefQ [7]. The initial excitement experienced by the parents on seeing their unborn baby evaporates when they are unexpectedly informed that the baby has an abnormality, that there is something wrong with its heart. Mixed with the awakening grief [5,11], there is often denial and disbelief, suppressed or overt anger and an attempt to question your expertise [12—16]. A perfect baby
S. Menahem, J. Grimwade had been sought and not one with a bad heart—bOur grief was enormousQ [7]. To that grief is added the shock of the diagnosis—bI was shocked emotionally, therefore lots of the details and explanation were not absorbedQ—bI was only prepared to listen to what I wanted toQ. To that shock may be added denial—bI just wanted to block it outQ. There is added guilt and shame, bWhat did I do wrong?Q. There is also a feeling of sadness and being alone— bI felt very aloneQ—bI felt helpless and powerlessQ [16]. Wishful thinking or bargaining for a breprieveQ may then intervene. These intense feelings may occur sequentially or together, confounding any attempt at imparting the knowledge upon which to anchor any counselling [17].
2.2. Accuracy of diagnosis For any counselling to be credible, there is a need to be competent at arriving at a correct and, as complete a diagnosis, as to the cardiac abnormality. If the heart is examined as part of a general screening of a low risk population, detection rates vary from 5 to 45% [18—21]. If done by an experienced cardiac ultrasonologist, the detection rate reaches 100% [22—24]. It is equally important for an abnormality not to be diagnosed when one is not there, as this may lead to tragic termination of the pregnancy. However, there are limitations in that that diagnosis of an atrial septal defect or a persistent patent ductus arteriosus cannot be excluded by a foetal study. At the same time, certain lesions evolve during the pregnancy such as a hypoplastic left or right ventricle making the need for follow-up scans if the possibility of such diagnoses is being considered.
3. Decisions to be made Once a significant heart abnormality is found in the fetus, two questions need to be answered: (1) whether the pregnancy will be continued with and if so (2) where should the mother be confined.
3.1. Continuation of the pregnancy This question is relevant if the diagnosis is made before 22 weeks [3]. Between 22 and 24 weeks at least in Melbourne, a multidisciplinary hospital committee needs to review the decision, while after 24 weeks gestation, few if any would attempt termination. There is some urgency, if the initial scan suggested a significant abnormality, to have that abnormality confirmed by an
Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart disease 603 experienced operator at a recognised centre. bThe natural grieving process is truncated by the superseding clockQ [25]. What then goes into the decision-making? Previous experience has demonstrated that parents are particularly concerned, not so much about the detail of the abnormality, but rather about specific issues relating to the pregnancy and perinatal care, and the subsequent impact on the well-being of the infant/child/adolescent even extending to the adult. The questions that are commonly asked include, bWill the baby die during the pregnancy?Q—bHow should the baby be delivered?Q—bWill I be able to hold the baby when born?Q—bWill he or she be placed in oxygen or on a respirator and rushed to the operating theatre?Q— bWill I be able to feed the baby, take her home, or will he require continued hospitalisation awaiting the next surgical procedure?Q—bWill the infant be retarded if he remains blue?Q—bWill my child be able to attend kindergarten, go to school, run around, play sport, etcQ. bWill he/she be able to marry, have children?Q The questions relate not as much to the detail of the abnormality, but rather to its consequences, the results of interventions if required, and the ultimate outcome. The position of a ventricular septal defect, the so-called hole in the heart, or whether there is pulmonary atresia/ventricular septal defect or Fallot’s tetralogy with forward flow (a large hole in the heart with obstructed flow to the lungs), although important to the cardiologists and cardiac surgeons, appear less so to the parents. While there is a wide range of serious cardiac abnormalities detected prenatally, the issues relating to counselling parents are essentially the same. However, it is helpful for the parents to know if, for example, necessary surgery carries a small risk with a resultant bcureQ, as for example closure of a big hole in the heart (ventricular septal defect) or correction of the great vessels which arise from the opposite pump (transposition of the great vessels). Parents may be less inclined to continue with a pregnancy if the necessary intervention results only in palliation with the need for further surgery as for example in a univentricular heart (presence of only one pumping chamber). Nevertheless, in both situations, parents mourn the loss of a healthy child [25]. Termination of a wanted pregnancy is a bwrenching decisionQ for the parents to make [25], and it is often experienced as a death of a child [26]. That decision is often influenced if an additional major abnormality is found in the fetus, the most important being that of a chromosomal
abnormality [25]. In our review of a cohort of 39, all of whom had karotyping done, 3 of the 13 patients who opted for termination, had an additional abnormal karotype. However, not all patients chose termination, even though a chromosomal abnormality was found [27]. Some parents, because of their religious or cultural background, will refuse termination. The decision to terminate may be based on the perception of pain or distress that the parents consider their baby will experience as a result of the abnormality, its consequences and the need for intervention, the pain and distress experienced by the siblings and by the pain and distress experienced by themselves [27]. The degree and importance of each contribution vary from one family to the next—bMy son’s future will not be fulfilling—in and out of hospital for the rest of his lifeQ—bNo reasonable chance of help—can be offered surgery, but not necessarily an outcomeQ— bWe wanted to protect the interests of our first childQ—bCouldn’t go through the trauma of risking losing a child, once having been born and operated onQ—bWe are concerned about our ability to cope with the baby and young child and concerned of likelihood of intellectual disabilityQ [7,27]. Empathic and non-directive techniques may be used to help parents reach an informed decision concerning termination [25,28,29], and may include reflective questioning, reframing, and even role play as suggested by Kessler [30]. The parents may find it difficult to understand that, even if a cardiac abnormality is complex, the fetus seems unaffected because of the obligatory mixing that occurs in the fetal circulation. Nevertheless, certain abnormalities may lead to fetal death. For example, increasing cardiac size with resultant lung compression may occur in an Ebstein anomaly of the tricuspid valve (inlet valve of the right pump) and severe incompetence or leak of the valve resulting in an enlarging right atrium (collecting chamber). A persistent tachyarrhythmia (abnormal fast rate) or a slow complete heart block may lead to cardiac failure and the development of a pericardial effusion (fluid around the heart). In such circumstances, the parents may decide not to terminate the pregnancy, as the fetus may not survive. 3.1.1. Physician’s role It is important to provide an accurate and as complete a diagnosis as possible to the parents, particularly as it relates to function and outcome. Some choose to grade the severity of the abnormality from 1 to 10 [28] to help the parents get some understanding of the seriousness of the problem. Of greater importance is the patho-
604 physiology or abnormal function of the lesion, the factors that will determine the need for immediate and late intervention, their outcome, and the quality of life that may ensue. This approach is particularly relevant where the diagnosis is complex (see Appendix A). Specially trained genetic counsellors may effectively undertake this role utilizing their understanding of the common threads arising from the prenatal diagnosis of a congenital abnormality. They may explore its etiology, address the psychosocial needs of the grieving couple, discuss the option of termination, and assess recurring risk [25]. However, there is an acceptance that the genetic counsellor contributes to the medical team, who have the detailed knowledge of the condition under consideration [25]. Welch and Brown [25] nevertheless suggest that bthe effective principles of genetic counselling can be applied to patient care by all those on the medical teamQ, a view we support. 3.1.2. Counselling There are many models of counselling. It has, and may be done, by the obstetrician, or ultrasonologist, paediatric cardiologist, neonatologist, geneticist, family doctor, or other professionals [28,31,32]. The counselling may be done by the one professional, or two or more professionals at the one time, reflecting local practice, experience, and resources, each with its own benefits and drawbacks as discussed in Campbell’s review [32]. 3.1.3. Our approach Over the years we have evolved an approach working together, which we believe helps deal with some of the issues raised. The counselling wherever possible is conducted with both parents present. The paediatric cardiologist is regarded as the bexpertQ, describing the cardiac anomaly and its functional significance. The obstetric ultrasonologist, who is able to give an expert opinion on the wellbeing of the fetus, ensures that the explanation of the heart abnormality is simple, in terms that the parents understand, highlighting the quality of life issues, survival of the infant, the need for interventions, and their risks. At times we may have uncertainties of diagnosis and/or outcomes and that is made known to the parents which further compounds the process (see example 3). Nevertheless, there is a need to make known not only the best possible outcomes but also the worst possible outcomes in prenatal diagnoses where there is still an option of termination. In contrast in postnatal diagnoses, best possible outcomes are emphasised as termination is not an option. Then only an encouraging approach is given unless there
S. Menahem, J. Grimwade is a considered decision not to continue with active treatment. In our cohort 39 patients, all with serious cardiac abnormalities, 70% of the 33 respondents to a postnatal questionnaire perceived that the explanations were clear or very clear, while 85% considered the detail given was bjust rightQ [7]. And that was in a setting where 70% of the respondents considered themselves very distressed or distressed at the time [7]. The understanding improved to 80% with subsequent scans. This improved understanding may be related to the parents having time to deal with their initial grief and shock [6], and an opportunity to assimilate what is wrong with their baby. Subsequent scans, in selected subjects, in addition to confirming the anatomy helped ensure that there had not been a progression of the lesion, as for example might occur with decreasing function of a ventricle, or the development of a pericardial effusion in a fetus with a malignant arrhythmia, or further discrepancy of the size of the ventricles with the development of a hypoplastic ventricle when there is a stenotic (narrowed) outlet valve [33]. Of interest, despite most the parents surveyed seemed to be satisfied with the above approach, many subsequently felt that additional literature may have helped their understanding of the abnormality. Detailed diagrams are now provided wherever possible aided by a brief summary of the diagnosis and planned intervention. While considerable information is available on the internet, it maybe overwhelming and confusing. Heartkids, Victoria is a support group available for our parents and has been used to advantage on many occasions especially where the prospective parents wished to meet and speak with parents who have a child with a similar abnormality who have gone through successful surgery. The attending obstetrician need know the diagnosis and anticipated management plan, and that is provided in our practice by the obstetric ultrasonologist. The family physician, can also be very helpful in supporting the family. A referral to a geneticist becomes important if there is a chromosomal abnormality e.g. a 22q deletion, or a neonatologist if the fetus has an associated anomaly e.g. arthrogyposis (deformed limbs). At times, parents may wish to see a cardiac surgeon to discuss outcomes, or the use of blood if the parents are Jehovah Witnesses. Counselling tends to be non-directive [25,28,31, 34,35]. However, the doctor is frequently asked bwhat would you do?Q. To answer that directly is problematic, in that the answers differ from one professional to the other. An ongoing request for more and more detail of the abnormality may be a
Pre-natal counselling—helping couples make decisions following the diagnosis of severe heart disease 605 coping response of the parents to avoid the grief being experienced [6], though there may be a need for many parents to receive all the information gathered [25]. The style or affect of those involved in counselling may have a profound influence on the parents. bYou look worried DoctorQ [6] may reflect the seriousness of the abnormality diagnosed and need not be bhiddenQ from the parents. However, self-awareness and understanding of these issues by those providing such counselling may help the outcome. In practice, it soon becomes apparent the direction the parents is tending, when such comments are made—bIt would not be fair for our other childQ—bIf we have a sick baby all the time, how will my husband get off to workQ or bI worry about my wife. What is she going to do with baby going in and out of hospital all the time?Q [27]. Of interest, most of the 13 patients in our cohort who terminated, felt that the explanations given were very clear, but usually found it either very difficult to decide whether to continue or not with the pregnancy. Of importance, 2 of the 13 who terminated, refused to send a reply, one still apparently angry. There is a need although seldom done, for ongoing contact with parents who terminate [36].
3.2. Where to plan delivery? If the abnormality is duct dependent, as for example a severe Fallot tetralogy with inadequate pulmonary (lung) blood flow or alternatively critical aortic valve stenosis with inadequate systemic (body) flow, or transposition of the great vessels with inadequate mixing [37], it is best for the baby to be delivered at a centre where neonatal intensive care facilities are available [33,38]. A prostaglandin E1 infusion can be commenced [39], to keep the duct (communication between the great arteries) open, the baby stabilised and, if need be, ventilated in preparation for surgery, if available at that centre, or transferred to a surgical centre. The importance of confirming the anatomy with an urgent and detailed echocardiogram once the baby is delivered, cannot be over-emphasised. Such confirmation provides reassurance and, strangely enough, relief to the parents that the fetal diagnosis was correct, that the doctors were brightQ, and that it is now possible to proceed as planned. bThat is what you told us beforeQ. That finding has been borne out by anecdotal evidence. Infants with tachyarrhythmias especially if there is ongoing cardiac failure and hydrops fetalis are also best delivered at a major centre with neonatal intensive care facilities as improvement is slow,
despite termination of the tachycardia. On the other hand, lesions that result in a left to right shunt will allow the baby to be delivered at the parent’s/obstetrician’s centre of choice. The infant will generally not get into difficulty until the pulmonary vascular resistance drops as the lungs bopen upQ, with an increase in the left to right shunt. That usually takes about 2 to 3 weeks to occur. Such lesions include a large ventricular septal defect, an atrio-ventricular septal defect (AV canal—a large hole in the centre of the heart), a truncus arteriosus (single trunk arising from both pumps), etc.
4. Practice implications and conclusions It is important that there is an accurate and detailed diagnosis of the fetal cardiac abnormality wherever possible. Such a diagnosis need be made as early as possible in the second trimester, to allow the parents as much time to reach a decision about continuation of the pregnancy. To assimilate the knowledge and implications of the diagnosis, counselling need be in simple terms, emphasising function and quality of life issues, aided by the supplementary written information. Our approach has been to work together, an obstetric ultrasonologist and paediatric cardiologist each bringing their own expertise to the counselling. Further scans may be very helpful and become essential if termination is contemplated. It is important to exclude other major congenital and chromosomal abnormalities. It is also important to involve the attending obstetrician and family physician and other specialists where indicated. Delivery at a tertiary centre is required, if the cardiac lesion is duct dependent or if cardiac or pulmonary function is compromised. Finally, it maybe helpful to encourage parents to return if the pregnancy is terminated, to deal with unresolved guilt, anger, etc. If parents are counselled well, anecdotal evidence seems to indicate that following confirmation of the diagnosis shortly after birth, the parents, particularly the mother, seem to handle the baby well, facilitating bonding. As one mother remarked, bWe coped with Kylie (who had Fallot’s tetralogy and a 22q deletion) better than with our previous daughter who had a cleft palateQ. Two parents from our cohort forwarded photographs of their children and wrote bWe couldn’t imagine life without herQ, and bWe wouldn’t have him any other wayQ. The lessons learnt from this experience may generalize to other major abnormalities diagnosed prenatally.
606
Appendix A A.1. Example 1—Correctable abnormality, good outcome Luke was diagnosed in utero as having transposition of the great vessels with an intact ventricular septum. Following an early balloon atrial septostomy to facilitate mixing, corrective surgery is performed at 1—2 weeks of age, the great vessels being reversed to the anatomically correct position. There is a mortality (at least in Melbourne) of the order of 1—2%. The long-term outlook is excellent. The need for repeat surgery is about 5%. Luke will require follow-up at increasing intervals, with a probable normal life span. The parents opted for continuation of the pregnancy.
A.2. Example 2—Palliative surgery, poor outcome In contrast, Mrs. A had a fetus with a hypoplastic left heart syndrome (absent left pump). Without surgery, the infant will die. With surgery—a Norwood Stage 1, there is an initial mortality of the order of 30—40%. There is a subsequent need for close observation and/or hospitalisation until the carrying out of a bidirectional caval pulmonary shunt (half Fontan)—main vein from upper body to right lung vessel, at approximately 3 months of age, followed by the completion of the Fontan—main vein from lower part of body to right lung vessel, 3 to 5 years later. Both latter procedures carry a mortality of 2—3%, there being the need for further hospitalisation, cardiac catheterisation, etc. To that is added the uncertainty as to whether the systemic right ventricle will ultimately fail and, if it does, the only option would be a cardiac transplant, with all the problems that go with it. Mrs. A opted for termination.
A.3. Example 3—Palliative surgery, uncertain outcome Joshua had a complex cardiac abnormality diagnosed in utero. There was both atrio-ventricular and ventriculo-arterial discordance, or so-called corrected transposition (main pump reversed). There was a large inlet VSD, severe pulmonary stenosis or atresia, and a small right ventricle from which arose the aorta. While the ventricular function appeared normal and there was no AV (inlet) valve incompetence, it was likely that the infant would be duct dependent, with the need for a prostaglandin E1
S. Menahem, J. Grimwade infusion during the newborn period, followed by an aortopulmonary shunt (modified right Blalock Taussig shunt)—tube from right arm artery to right lung artery. The uncertainty then was whether Joshua would be able to have a two pump repair, that is connecting the left ventricle via the VSD to the ascending aorta and placing a conduit (tube) from the right ventricle to the pulmonary arteries. At the same time, there would be the need to carry out a Senning inflow diversion, that is redirecting the systemic venous blood to the right ventricle, and redirecting the pulmonary venous blood to the left ventricle. Theoretically feasible, but with a high morbidity and mortality. There was also the problem of a smallish right ventricle and its adequacy to accommodate the pulmonary circuit. The alternative approach was to carry out a less risky but palliative Fontan procedure, with both ventricles ejecting into the ascending aorta and returning the desaturated blood directly to the pulmonary arteries. How much of the above would these very distressed patients, understand and then be able to decide what is in the best interests of their baby, their other children, and own well-being, when the doctors themselves were uncertain of the optimal management and outcome. The parents nevertheless opted to continue the pregnancy once the chromosomes proved normal. Joshua is doing well following his initial shunt and subsequent bidirectional caval pulmonary shunt. It was considered that the right ventricle was too small for a two pump repair.
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