Clinical narratives
I (HW) would like to introduce you to Mrs. Liesbeth Noomen and her husband Niels, who visited the out-patient clinic of my university hospital in Rotterdam, the Netherlands. 1
1 These clinical narratives were published earlier ( ); the names of the patients are fictional.
(narrative 1). They were referred by the community midwife following an abnormal 20-week fetal-anomaly scan. Prior to their visit, I received a full report from the regional ultrasound center with details of the findings. Normally, within a few days after an abnormal 20-week fetal-anomaly scan, women are scheduled for a detailed diagnostic evaluation that includes an expert fetal ultrasound examination and subsequent counseling in our tertiary center. 22 In the Netherlands a distinction is made between the fetal-anomaly scan (structureel echoscopisch onderzoek) conducted at 18-to 20-week gestation for universal fetal anomaly screening and an expert ultrasound examination [geavanceerd ultrageluidonderzoek (GUO)] for women with known risk factors, for example, diabetes, or at those with risk factors arising during pregnancy, for example, suspected fetal anomaly (GUO 2). An expert ultrasound examination is typically conducted in tertiary centers, that is, a university medical center or its satellite centers.
Liesbeth just had her expert fetal ultrasound examination at our university clinic. The sonographer briefed me on the details of her findings. She told me that the fetal anomaly was confined to the fetal brain. Liesbeth’s unborn child was diagnosed with an isolated severe ventriculomegaly: the diameter of the lateral ventricle was 19.5 mm (normally less than 10 mm). No associated fetal structural anomalies were detected.When Liesbeth and Niels entered my room I tried to make them feel comfortable. I gave them time to let them get aquatinted to where they were and to let them take in the meaning of the recent ultrasound findings. I encouraged them to express their feelings about their current situation. Liesbeth told me she was extremely stressed. “It is so unreal. Up to last week everything seemed okay and then, out of the blue, we are faced with this terrible news.” “What to do?”
The moment I had the impression that Liesbeth and Niels felt more or less at ease, I mentioned cautiously the various management options and potential policy implications, thereby taking continuously into account whether the given information had been understood. 3
3 For this purpose the teach-back method is used. This method is a way of checking understanding by asking patients to state in their own words what they need to know or do about their health condition. It is a way to confirm that you have explained things in a manner your patients understand ( https://www.ahrq.gov/health-literacy/quality-resources/tools/literacy-toolkit/healthlittoolkit2-tool5.html ).
Since an isolated ventriculomegaly is associated with fetal chromosomal abnormalities, I discussed with Liesbeth and her husband the option of genetic testing. Following my explanation of the various management options, Liesbeth and Niels decided to have an amniocentesis. I conducted this procedure the same day. Before they left my clinic I gave them some practical advice. After they had left, I called her community midwife to inform her about Liesbeth’s and Niels’ consultation and the subsequent plan of action.Two weeks later I saw Liesbeth and Niels again. The day before the clinical geneticist told them by telephone that the amniocentesis revealed Down syndrome (trisomy 21). At that time Liesbeth was 22-weeks pregnant. Following extensive counseling by myself and the clinical geneticist, the couple opted for pregnancy termination. We told them that their seemingly well-informed decision had our full support. Pregnancy termination was subsequently conducted at a gestational age of almost 23 weeks. 4
4 In the Netherlands, the law permits termination of pregnancy until a gestational age of 24 weeks under certain conditions ( ). Termination of pregnancy prior to 24-week gestational age is only considered at explicit parental request. Termination of pregnancy may not be a realistic option in other countries because of more restrictive legislation on abortion.
My next patient 5
5 Throughout the text the terms “patient,” “parent,” and “couple” are used interchangeably and refer to a pregnant woman (together with her life partner where indicated).
is Clara Pelt and her husband Mike (narrative 2). When I met them they seemed rather relaxed. At the time she was 21-weeks and 5-day pregnant. She was referred by her community midwife because of a mild intracerebral ventriculomegaly detected at the 20-weeks fetal-anomaly scan conducted the week before I saw her. She just had an expert ultrasound examination at our institution where the slight increase in the diameter of the lateral ventricles was confirmed. Apart from this finding, no other fetal structural anomalies were encountered. Clara and Mike seemed relieved despite the fact that the fetal prognosis of this finding is uncertain. I talked with them about the option of genetic testing by amniocentesis. After weighing the pros and cons of this procedure and its implications, they decided to have the amniocentesis. The same day amniocentesis was done. Chromosomal microarray showed normal results. Blood tests for congenital fetal infections, including syphilis, cytomegalovirus, toxoplasma, rubella, and parvovirus infection, were negative.During the follow-up visit at a gestational age of 23 weeks and 5 days, a slight increase in the diameter of the lateral ventricles was noted (diameter 13.7 mm). I informed them about the potential implications of the suspected anomaly in terms of future health and well-being of their baby. I also tried to explain to them the uncertainty about the natural course and subsequent prognosis of this finding for future health and well-being. I informed them about the management options, ranging from wait-and-see to pregnancy termination. Clara and Mike were quite certain what they wanted: “We have a positive attitude towards life.” “Life is full of risks; we accept these as they come.” “Moreover, our child is always welcome, even if its prognosis is poor.” The couple decided to continue the pregnancy. I told them that we fully supported their decision since it corroborated with their own views, values, and feelings. I advised further diagnostic evaluation and monitoring. I scheduled the couple for discussion at the upcoming multidisciplinary perinatal team meeting.
Clinical dilemmas
Nowadays, prenatal screening tests are offered to every pregnant woman, at least in high resource countries ( ). Apart from the joy of watching their child on the ultrasound screen, the pregnant woman experiences prenatal screening as a tool to have “normality” confirmed. In fact, most pregnant women undergo prenatal screening tests to be reassured with in the back of their minds the constant concern “what if things are wrong?” ( ). While normal findings at ultrasound examination have strong beneficial psychological effects on the pregnant woman and her partner in terms of reassurance and parental bonding, the couple is often ill-prepared for bad news about the health of their unborn child in the case of untoward findings ( ). This news often comes out of the blue, where pregnancy, initially being considered a natural social phenomenon, turns into a very distressing medical problem. The diagnosis of a major fetal anomaly often evokes strong emotional reactions among the couple such as anxiety, disbelief, loneliness, anger, despair, prostration, grief, and guilt ( ). In fact, major fetal anomalies are typically experienced by the prospective parents as a devastating loss of a normal pregnancy ( ). Under these circumstances, it is often very difficult for the expectant parents to grasp the nature of the condition and its possible consequences for future daily life, for themselves, their child, and their family. In fact, the couple is confronted with at least two potentially conflicting emotional values, that is, the well-being of their unborn child and the well-being of themselves and their family. How do they decide whose interest should prevail? The disturbing news about the unborn child is usually given in a medical setting, which is unfamiliar to the couple and often perceived as intimidating. In this context the couple often feels distraught, misunderstood, and powerless. They are inclined to follow medical advice at face value thereby ignoring their own feelings and personal values.
In contrast to Liesbeth and Niels (narrative 1), the finding of a mild intracerebral ventriculomegaly did not seem to upset Clara and her husband Mike (narrative 2). But were they well-informed, in the context of the prognostic uncertainty? 6
6 In the setting of isolated ventriculomegaly of 10–12 mm, the likelihood of survival with normal neurodevelopment is >90%. With moderate ventriculomegaly (13–15 mm) the likelihood of normal neurodevelopment is 75%–93% ( ).
If an anomaly is suspected, further diagnostic evaluation in a tertiary center is warranted ( ), as is demonstrated in both clinical narratives. Further diagnostic evaluation may include second-trimester amniocentesis for genetic testing, that is, microarray and whole exome sequencing (see Chapter 3 ). Second-trimester amniocentesis is associated with an excess risk of pregnancy loss of approximately 0.3% (95% CI, 0.11–0.49%) ( ).Other potential investigations include maternal blood sampling for infections, magnetic resonance imaging (MRI) ( ), and follow-up advanced ultrasound examinations (narrative 2). The latter is indicated to monitor the progression of the abnormal findings. Moreover, due to the ongoing development of the organ systems, some anomalies will not be apparent until later in the pregnancy, necessitating follow-up visits for further evaluation of the fetal condition ( ). The prospects for the future health of Clara and Mike’s child are uncertain.
Management options when a fetal anomaly is detected
Major fetal structural anomalies involve management decisions about whether to apply full life-sustaining treatment even in the light of an adverse fetal prognosis in terms of survival and quality of life or to prevent suffering by taking an end-of-life decision. In Rotterdam, following the ultrasound diagnosis of a major fetal anomaly, a selection of affected women will be discussed in a multidisciplinary perinatal team. 7
7 In Rotterdam (Erasmus MC) the woman whose pregnancy is complicated by a major fetal anomaly will be discussed in the multidisciplinary perinatal team if she meets one or more of the following criteria: (1) there is uncertainty about the diagnosis and/or prognosis, (2) when the infant is expected to be referred after birth for treatment at the neonatal unit of the Erasmus MC, and (3) when there is a parental request for pregnancy termination beyond 24 weeks of gestation, which is the upper legal limit for pregnancy termination in the Netherlands ( ; ).
Such teams have been set up in many tertiary care centers, including the Erasmus MC in Rotterdam, the Netherlands ( ) ( Box 2.1 ).The multidisciplinary team
The multidisciplinary perinatal team in Rotterdam typically consists of medical (sub)specialists involved in perinatal care, including expert ultrasonographers; fetal and maternal medicine specialists; neonatologists; pediatric subspecialists in the fields of surgery, intensive care, cardiology, neurology, nephrology, and urology; clinical geneticists; and a variable number of physicians with different levels of expertise and experience. The multidisciplinary perinatal team meets weekly and makes decisions on obstetric and neonatal management as well as on the intended place of delivery (i.e., whether or not the delivery should take place in a tertiary care center). The Rotterdam team shares many characteristics with multidisciplinary perinatal teams in other tertiary care centers in the Netherlands and elsewhere. Differences may exist in the participation of other health-care professionals, such as social workers, midwives, nurses and general practitioners, the openness of the debate on end-of-life decisions, and the legal regulations. These factors may influence the process of decision-making in other centers.
The eligible patient is discussed by the multidisciplinary perinatal team to determine the recommended option for perinatal management. The condition of the fetus is discussed in terms of the likelihood of survival and quality of life. The multidisciplinary team sessions serve several goals, that is, the collection and exchange of all relevant information of the maternal and fetal clinical condition, reaching consensus on management decisions, thereby attuning obstetric and neonatal management decisions, and sharing the moral and medical burden of responsibility for such difficult decisions ( ). End-of-life decisions may be taken when, according to prevailing medical insight, the infant will not have a chance of survival or has a very poor prognosis in terms of quality of life while it is expected that a targeted treatment will not be beneficial ( Box 2.2 ). The team strives for consensus.
Not standing a chance : according to prevailing medical insight, the newborn infant will have no chance of survival, that is, will die immediately or within several days or months after birth or has a very poor prognosis in terms of quality of life.
Treatment is futile : apart from alleviation of suffering, fetal or neonatal treatment is deemed to be ineffective in terms of improving survival or quality of life.
In cases where maximal care is considered appropriate, the team decides to apply tailored perinatal care that typically involves a policy of referral of the pregnant woman to an obstetric unit with adequate neonatal facilities for targeted treatment, where indicated ( Box 2.3 ). This is also true for fetal conditions where there is controversy within the team about the appropriate management ( ). Such decisions are typically motivated by the “negative” argument that there is no reason to deviate from standard treatment, that is, treatment aimed at keeping the fetus alive and in the most optimal condition ( ). The appropriateness of interventions aimed at sustaining life may be questioned in the case of a very poor fetal prognosis in terms of life expectancy and quality of life. For this reason, nonintervention policy, including noninterventional obstetric management, comfort care, withdrawal of lifesaving neonatal care, or second-trimester pregnancy termination, may be considered appropriate management options ( ) ( Box 2.3 ).
Tailored perinatal care
Timely referral of the prospective mother with targeted treatment of the newborn infant in a facility with an adequate level of obstetric and neonatal care.
Noninterventional perinatal management
Noninterventional (syn: nonaggressive) perinatal management refers to obstetric and neonatal management (e.g., striving for natural childbirth, no cesarean section for fetal distress, no active neonatal life support) in which interventions needed to sustain fetal or neonatal life are forgone because of the poor prognosis of the fetus ( ). first reported the noninterventional obstetric management approach in 13 women where such an approach was adopted. They regarded noninterventional obstetric management as permissible, and even preferable, when there is certainty of death or absence of cognitive developmental capacity as an outcome of the congenital anomaly. They argued that in such cases the fetus does not benefit from obstetric intervention, while such intervention may harm the pregnant woman and interfere with her autonomy ( ). Noninterventional obstetric management may be a good alternative where (late) pregnancy termination is not a (legal) option.
Comfort care
Comfort care (syn: perinatal palliative care) is intended to meet the needs of the woman (and her partner) who choose to continue a pregnancy complicated by the detection of major fetal anomaly with a poor (i.e., life-limiting) prognosis ( ). A multidisciplinary coordinated approach provides the couple with comprehensive, holistic support ( ). In this context, support should be nondirective, nonjudgmental, and compassionate ( ).
Termination of pregnancy
Termination of pregnancy is a management option in which the pregnancy is typically terminated in the second trimester of pregnancy with the explicit intention of hastening fetal death. The first termination of pregnancy after ultrasound diagnosis of fetal anomaly was reported by . Their report concerned a fetus with anencephaly.
In the second-trimester pregnancy, termination of pregnancy is normally done by medical induction of labor ( ). In advanced gestations, that is, beyond the gestational age of potential fetal viability (i.e., 21–24 weeks), medical termination of pregnancy may be preceded by feticide with intracardiac potassium chloride (KCl) ( ) to assure that the infant is not born alive. In some countries, surgical termination of pregnancy by cervical dilatation and evacuation of the fetus and placenta (D&E) is an alternative option ( ). The RCOG only recommends D&E when performed by specialist practitioners with access to the necessary instruments and who have a sufficiently large caseload to maintain their skills ( ).
Which fetal conditions qualify for the latter management options? That is a matter of controversy. In fact, there is no standard objective measure for the quantification of the severity of the fetal condition ( ). Apart from the nonavailability of effective treatment, the “severity” of the condition of the unborn infant is determined by the diverging judgments and attitudes of those who are involved in the care of the pregnant woman and her child. This is compounded by the perspective and attitudes of the would-be parents experiencing ambivalent and strong emotional feelings when faced with end-of-life decisions ( ). In this context, birth plans could be beneficial and may provide a greater sense of control for parents ( ).
The concept of positive health
In 2011 a new dynamic concept of health was introduced: “health as the ability to adapt and to self-manage in the face of social, physical and emotional challenges” ( ). This new concept focuses on the six dimensions of health (building blocks), as perceived by patients ( ) ( Box 2.4 ).
The six dimensions of “positive health” are as follows:
- 1.
bodily functions
- 2.
mental functions and perception
- 3.
spiritual/existential assets
- 4.
quality of life/well-being
- 5.
social and societal participation
- 6.
daily functioning
The positive elements of the new health concept emphasize that a person is more than his/her illness and still has a (large) potential for being healthy. It focuses on a person’s strength rather than his/her weakness, it refers to self-management and individual responsibility, and it makes the relationship between patient and health-care professional more balanced ( ). The six-dimensional framework of this new concept of health could be used as an opportunity to elucidate the various components of the—dynamic—coping mechanisms of couples facing major fetal anomaly. This may facilitate counseling and subsequent shared decision-making. For instance, when the prospective parents are faced with the untoward news of their child having a major anomaly, they may prefer to think in terms of what their child may accomplish given its handicap rather than in terms of what their child will not be able to accomplish (narrative 2). This notion could be reassuring. The concept of “positive health,” however, has not yet been validated among pregnant women and their partners. A potential negative element about this approach is that the couple’s own personal considerations should be balanced against the future health and well-being of their unborn child ( ). In fact, they are considered the spokespersons of their child and are personal responsible for the care and well-being of their future child. The interests of the child, however, do not necessarily corroborate with those of the couple. This conflict of interests probably plays a key role in parental decision-making about the management options, that is, whether or not to continue the pregnancy. Is their decision determined by their concerns about the future health and suffering of their child, by their anguish of the physical, social, and financial implications of having a “handicapped” child?
Risk communication and risk perception
From the ethos of the profession, it is imperative for the health-care professional not to miss a detectable fetal structural anomaly. Hence, during the ultrasound examination, the ultrasonographer is primarily focused on the detection of a structural anomaly of the unborn infant ( ). This requires time and concentration. Upon completion of the fetal examination, the abnormal findings should be properly interpreted and communicated by the ultrasonographer to the parents. Health-care professionals tend to convey information about their findings and consequent risks for the unborn infant in a rather medical-technical way. In fact, most of them view decision-making as a relatively rational process of first weighing and then ranking alternatives, after which the best option is chosen ( ).
From the parents’ perspective the graduality of chance in terms of probabilities is a difficult concept to understand and seems to be of little importance to them. The couple often has a binary perception of risk: probabilistic information is translated into two options: (1) the child will not be (severely) affected (2) the child will be severely affected and possibly die. As a result, even an unlikely outcome in terms of probability may dominate their decision-making when this outcome is associated with a very poor prognosis ( ). In fact, the process of parental decision-making should not solely be assessed on the basis of its rationality, but also on the basis of the diverse perceptions of the parents, including their intuition, beliefs and—disparate—values, which may be concealed by strong emotions and derealization, and their capacity to cope with uncertainty ( ). These diverging perceptions of suspected fetal anomalies between health-care professionals and the couple underline the importance of a truly empathic approach by health-care providers.
Parental decision-making
Derealization, depersonalization, and the perception of choice
Derealization and depersonalization are psychological phenomena that may complicate counseling and subsequent shared decision-making. These phenomena typically occur following a traumatic event, such as the detection of a major fetal anomaly on ultrasound. interviewed prior to delivery 107 out of 161 eligible women whose pregnancy was complicated by a major fetal anomaly using a semistructured questionnaire. All women were interviewed by telephone. The presence of derealization was evaluated by asking them whether they had a feeling “as if it all wasn’t true” (see narrative 1). The interviewer then invited women to elaborate on their answer. When women answered it was rather like feeling “as if it is happening to somebody else,” this was coded as depersonalization. Women’s perception of choice was evaluated by asking whether they felt they were faced with choices regarding the continuation of their pregnancy; 58 of 107 women (54%) felt they did not have a choice concerning perinatal management of their pregnancy. Reported feelings of derealization or depersonalization were present in 50% of all interviewed women. However, these phenomena were not related to their reported perception of choice ( ).
Framing
introduced the concept of framing: not only objective data are important in the decision-making, but also the reference point against which they are being weighed. In the context of being faced with a major fetal anomaly, the reference point of some parents might be the expectation their child is completely healthy while the reference point of others might be the opposite, the conviction that their child has a lethal problem. In fact, parents tend to attach different meanings to the same fetal structural anomaly. For example, in parents whose children are all healthy, the perception of the finding of an isolated fetal anomaly, such as cleft lip, might be completely different from those who have lost a child and are childless ( ).
Minimal account
Tversky and Kahneman also observed that people generally evaluate acts in terms of minimal account, that is, they consider only the direct consequences of the act. Parents sometimes wish to terminate pregnancy immediately after being informed of the diagnosis of a lethal anomaly ( ). In doing so, patients tend to consider the direct consequences of their decision only. They deny the possibility of considering the alternatives, such as the continuation of the affected pregnancy. asserted that relief resulting from denying the situation is the direct consequence of their attitude. By getting the affected child “out of their system,” parents believe that they evade the grief that results from bonding with the child they are about to lose. But in doing so, they fail to consider the long-term consequences of their stance. In fact, later they may regret not having made a “real” decision in which all options were given a fair chance. They may also conclude that they would have preferred to continue the pregnancy even knowing that their affected child would die at or shortly after birth. The ambivalence of feelings may be the result of doubts about the accuracy of the diagnosis, regrets of not having “known” their child longer, feelings of guilt about having actively denied their child any chance to live, delayed mourning because of denial, and feelings of sadness over the loss of their child ( ). The same is true for the parental decision not to consent to autopsy, a decision that might be influenced by the short-term impact of the negative emotions associated with this investigation and by their wish to leave the child’s body intact. In hindsight, they acknowledge that the autopsy might have revealed important information that could have relieved their grief and could have provided a better insight into the risk of recurrence for future pregnancies ( ).
Domains of good care
Prenatal and/or perinatal management decisions, including end-of-life decisions, may evoke trying questions and potential misunderstanding among parents. Does such nonintervention management hurt the infant? Why is a diagnosis certain enough for making end-of-life decisions before birth but needs confirmation after birth? identified five domains of “good care” from the perspective of the affected women, that is, (1) being cared for in a timeframe and environment that feels right, (2) receiving the right level of care, (3) being supported by health-care professionals and organizations, (4) acknowledging women’s particular circumstances, and (5) enabling women to make choices. Regarding the latter theme, women particularly valued being offered a choice of the method of termination, that is, medical or surgical ( ). Other important features of good quality decision-making include consistency, transparency, discussing—in an unbiased way—medical and ethical aspects separately, and adequate counseling of the parents, including explanation that a noninterventional obstetric management does not necessarily mean that the infant will die after birth. Women value timely, clear, and unbiased information about the anomaly, the potential management options, including the termination of pregnancy and what to expect after the birth of the affected child ( ). In this context, scenario-making can be an important tool to support parental decision-making following a fetal anomaly detected on ultrasound. By this approach the couple is invited to envision what the implications are at the level of daily life for the child, themselves, and the family when pregnancy is continued thereby taking into account the several possible outcomes, such as abnormal neurological and cognitive development. Furthermore, the couple is invited to envision what the scenario of pregnancy termination might be. In this way the impersonal medical-technical information about the fetal anomaly and subsequent risk is converted into more concrete scenarios that the couple may use to shape their thoughts, feelings, and ethical values ( ).
Pitfalls
Decision-making following the detection of major fetal anomaly is challenging because of several pitfalls, which are summarized in Box 2.5 .
