cannot be suppressed for the patient's sake. Expressing uncertainty does not imply ignorance or incompetence. An honest accounting of the problems at hand, the offer of a second opinion, and an empathetic approach all go a long way in averting a catastrophic outcome and aggravating litigation. Moreover, responsibility shared is anxiety halved.
Decision making
The presence of both parents for the consultation concerning possible elective abortion for a fetal anomaly is critical in this situation. All the principles governing the delivery of genetic counseling and discussed earlier apply when parents need to decide whether or not to continue their pregnancy. A brief explanation of some of the key issues follows, culled from over 50 years of experience in this very subject.
Doubt and disbelief crowd the parental senses in the face of such overwhelming anxiety. Was there a sample mix up? How accurate is this diagnosis? How competent is the laboratory? Have they made errors in the past? How can we be certain that there has been no communication failure? Is there another couple with the same name? There are endless questions and endless doubts. Each and every one needs to be addressed carefully, slowly and deliberately, with painstaking care to provide the necessary assurance and reassurance. Needless to say, the clinical geneticist or counselor must have thoroughly checked all the logistics and potential pitfalls before initiating this consultation. Errors have indeed occurred in the past.184, 185
The central portion of the communication will focus on the nature of the defect and the physician or counselor providing the counseling should be fully informed about the disorder, its anticipated burden, the associated prognosis, life expectancy, and the possible need for lifetime care. A clear understanding of the potential for pain and suffering is necessary, and an exploration concerning the effect on both parents and their other children is second only to a discussion about the potential effects on the child who is born with the condition in question. Any uncertainties related to diagnosis, prognosis, pleiotropism, or heterogeneity should emerge promptly. Questions related to possible future pregnancies should be discussed, together with recurrence risks and options for prenatal diagnosis.
The question concerning a repeat prenatal study is invariable, at least if not stated then certainly in the mind of the parents. There are occasions when a repeat test might be appropriate, especially if there is a failure to reconcile cytogenetic or molecular results with expected high‐resolution ultrasound observations. Maternal cell contamination (see Chapters 9, 11, and 14), while extremely unlikely in almost all circumstances, requires exclusion in some others. Some prenatal diagnoses may not easily be interpretable and a phenotype may not be predictable with certainty. A de novo supernumerary chromosome fragment in the prenatal cytogenetic analysis (see Chapter 11) or a microdeletion or microduplication (see Chapter 13) are key examples. VOUS, especially in a gene known to harbor pathogenic mutations, is unnerving. Where a VOUS is uninterpretable, decision making reverts to the fetal anomaly seen or biochemical abnormality observed. The sensitive counselor should offer a second opinion to anxious parents facing an uncertain prenatal diagnosis. The “compleat physician” anticipates virtually all of the patient's questions, answers them before they are asked, and raises all the issues without waiting for either parent to vocalize them.
Occasionally, there are powerful disparate attitudes to abortion between the spouses as discussed earlier. Such differences would best be considered during the preconception period, rather than for the first time when faced with a serious fetal defect. Resolution of this conflict is not the province of the physician or counselor, nor should either become arbitrator in this highly charged and very personal dispute, in which religious belief and matters of conscience may collide. The physician's or counselor's duty is to ensure that all facts are known and understood and that the pros and cons of various possible scenarios are identified in an impartial manner. A return appointment within days should be arranged. Questions of paternity have also suddenly emerged in this crisis period and can then be settled, sometimes with painful certainty.
Elective abortion: decision and sequel
Among the greatest challenges clinical geneticists and genetic counselors face is the consultation in which the results of prenatal studies indicating a serious fetal defect are communicated to parents for the first time. These appointments must not be rushed. It is important that the many variables influencing parental decisions about pregnancy termination be recognized.978, 979 The quintessential qualities a counselor will need include maturity, experience, warmth and empathy, sensitivity, knowledge, communication skill, and insight into the psychology of human relationships, pregnancy, and grieving. Personal experience with loss or bereavement is likely to influence the emotional guidance provided.980 Certainly there is a wealth of literature suggesting inadequate preparation for those who ultimately care for individuals facing bereavement or death.980, 981 An in‐depth understanding of the disability that the affected child and parents could anticipate is of obvious importance. The principles and prerequisites for counseling discussed earlier apply fully in these circumstances and the fact that this is a parental decision, not a medical “recommendation,” should not need reiteration.
Anticipatory counseling in these consultations has been characterized by in‐depth discussions of two areas: first, all medical and scientific aspects of the prenatal diagnosis made (and discussed earlier), and second, recognition and vocalization of emotional responses and reference to experiences (preferably published) of other couples in like circumstances when it was helpful. These sessions have then included explorations concerning guilt, a possible feeling of stigma (because of abortion), anger, upset, family pressures, and how other couples have coped. All of this anticipatory counseling should be tinctured with support and hope when possible.
It is important that the many variables influencing parental decisions about pregnancy termination when faced with a serious disability and/or life‐threatening or limiting disorder or anomaly be recognized and understood.979, 982–985 Parents will automatically bring their moral and religious beliefs to bear on their decision making. So too will their experience of disability and what they had seen in families with affected children. A mother's age, prior periods of infertility, previous miscarriages, a history of an elective abortion or fetal abnormality, all factor into their decisions. Fortunately, not common is the painful quandary of uncertainty concerning severity of the prenatally diagnosed genetic disorder. One example is the mildly affected mother with a 22q11.2 deletion informed about a conotruncal cardiac anomaly in her fetus and uncertain future intellectual disability, the risk for which approximates 30 percent, further compounded by up to 30 percent risk of developing schizophrenia in young adulthood, and autism/autism‐spectrum disorders in about 20 percent.986–991
Longing for and imagining becoming a parent anew or again may also have been bolstered by unexpected bonding that occurred when the mother saw fetal features and/or movements on obstetric ultrasound. A frequent expressed concern is the effect a disabled child would have on the family's other child or children. Worse still, would that child have the burden of caring for the affected sibling after the death of the parents. Would some stigma attach and eventually have an effect on a potential marriage mate for their child or children. Would they have to devote so much time and energy to the needs of a disabled child that it would result in relative neglect of their other children. To what degree, if any, would there be pain or suffering (including psychological) for the affected child.
Perhaps not surprising is the influence of their own parents and their belief in the couple's ability to parent a child with a serious disability.
