X‐linked disorders, maternal “culpability” is real and not easily assuaged. The fact that we all carry harmful genes, some of which we may have directly inherited, while others may have undergone mutation, will need in‐depth discussion. Mostly, it is possible and important to reassure mothers that the outcome was not due to something they did wrong. Where the converse is true, much effort will be needed for management of guilt1030 and shame, and for planning actions that promise a better future with ways to avert another adverse outcome.
Attention to details that have a very important role in the mourning process (see Box 1.4 checklist) include ensuring that the child be given a name and, in the case of the death of an abnormal fetus in the third trimester, that the parents' wishes for a marked grave be determined. As noted earlier, most caretakers feel that parents are helped by both seeing and holding the baby.1000, 1001, 1031 Although some may experience initial revulsion when the subject is mentioned, gentle coaxing and explanations about the experiences of other couples may help grieving parents. Even with badly disfigured offspring, it is possible for parents to cradle a mostly covered baby whose normal parts, such as hands and feet, can be held. Important mementos that parents should be offered are photographs,1032 a lock of hair, the baby's name band or clothing.1027, 1028 Ultimately, these concrete emblems of the baby's existence assist parents in the mourning process, although the desperate emptiness that mothers especially feel is not easily remedied.1033 Photos may also be helpful in providing comfort for other children and for grandparents. Parents will also vary in their choice of traditional or small, private funerals. Physicians should ensure that parents have the time to make these various decisions and assist by keeping the child in the ward for some hours when necessary.
Both parents should be encouraged to return for continuing consultations during the mourning period.1034 Follow‐up contact after pregnancy has ended includes calls, condolences cards, and recommendation for further bereavement counseling. This appointment will also enable further discussion about causation, future risks, and options, as well as coping strategies. Parents confirm that anxiety blocks the assimilation and comprehension of facts and recommendations. Vocalizing the realization is helpful while repeating information provided previously. Mourning may run its course for 6–24 months. These consultations will serve to explore aspects of depression, guilt, anger, denial, possible marital discord, and physical symptoms such as frigidity or impotence. Impulsive decisions for sterilization should be discouraged in the face of overwhelming grief. Advice should be given about safe, reliable, and relatively long‐term contraception.1035 Similarly, parents should be fully informed about the consequences of having a “replacement child” very soon after their loss.1036, 1037 That child may well become a continuing vehicle of grief for the parents, who may then become overanxious and overprotective. Subsequently, they may bedevil the future of the replacement child with constant references to the lost baby, creating a fantasy image of perfection that the replacement child could never fulfill. Such a child may well have trouble establishing his or her own identity.
The surviving children
Distraught parents frequently seek advice about how to tell their other children. Responses should be tailored to the age of the child in question, to the child's level of understanding, and against a background of the religious and cultural beliefs of the family. A key principle to appreciate is that having reached the stage of cognizance regarding the loss, a child needs and seeks personal security. Hence, the parents' attention should be focused on love, warmth, and repetitive reassurance, especially about (possibly) unstated feelings of previous wrongdoing and personal culpability. Advice about grieving together instead of being and feeling overwhelmed in front of their children is also helpful. Focusing on the children's thoughts and activities is beneficial rather than lapsing into a state of emotional paralysis, which can only serve to aggravate the family's psychodynamics adversely.
The efficacy of genetic counseling
Genetic counseling is a communication process that aims to achieve as complete an understanding by the counselee(s) as possible, thereby enabling nondirective rational decision making. Studies examining the efficacy of genetic counseling in various settings and using different modalities (e.g. telephone versus in‐person) and self‐efficacy of genetic counselors and students continue.1038–1041 Anxiety, distress, uncertainty, guilt, decisional conflict, and a deficient knowledge of science, together with difficulty in understanding a balance of risks, influence the ultimate efficacy of genetic counseling. Parental decisions to have additional affected progeny should not be viewed as a failure of genetic counseling. Although the physician's goal is the prevention of genetic disease, the orientation of the prospective parents may be quite different. A fully informed couple, both of whom had achondroplasia, requested prenatal diagnosis with the expressed goal of aborting a normal unaffected fetus so as to be able to raise a child like themselves. Would this be construed as a failure in genetic counseling? Would continued pregnancy with an anencephalic fetus after genetic counseling be considered a failure of genetic counseling?
Clarke et al.1042 considered three prime facets that could possibly evaluate the efficacy of genetic counseling: (i) recall of risk figures and other relevant information by the counselee(s); (ii) the effect on reproductive planning; and (iii) actual reproductive behavior. Their conclusions, reflecting a Western consensus, were that there are too many subjective and variable factors involved in the recall of risk figures and other genetic counseling information to provide any adequate measure of efficacy. Further, assessing reproductive intentions may prejudge the service the counselee wishes as well as the fact that there are too many confounding factors that have an impact on reproductive planning. Moreover, how many years after counseling would be required to assess the impact on reproductive planning? They regarded evaluation of reproductive plans as “a poor proxy for reproductive behavior.” In dispensing with assessments of actual reproductive behavior in the face of counseling about such risks, they pointed to the complex set of social and other factors that confound the use of this item as an outcome measure. They did, however, recommend that efficacy be assessed against the background goals of genetic counseling aimed at evaluation of the understanding of the counselee(s) of their own particular risks and options. A questionnaire study from the Netherlands questioned 1,479 counselees about their experience of genetic counseling. Questionnaires were administered before and after counseling and for the third time after results were disclosed.1043 They noted improvement in the level of empowerment, personal control, and anxiety after the whole process.
Evaluation of the efficacy of genetic counseling should not only include the degree of knowledge acquired (including the retention of the counselee(s) with regard to the indicated probabilities), the rationality of decision making (especially concerning further reproduction), but also the potential personal influences outlined in the Netherlands' study. Frequent contraceptive failures in high‐risk families highlight the need for very explicit counseling. A further measure of efficacy is the frequency and accuracy of a proband's communication of important risk information to close relatives. It appears that communication of test results may be selective, with male relatives and parents less likely to be informed.1044
Important points made by Emery et al.1045 in their prospective study of 200 counselors, included the demonstrated need for follow‐up after counseling, especially when it is suspected that the comprehension of the counselee(s) is not good. This seemed particularly important in chromosomal and X‐linked recessive disorders. They noted that the proportion deterred from having children increased with time and that more than one‐third of their patients opted for sterilization within 2 years of counseling.
A number of studies1045–1048 document the failure of comprehension by the counselee(s). Such failures are increasingly likely with genome sequencing resulting in secondary findings and revelations of unknown significance.1048 The reports do not reflect objective measures of the skill or adequacy of genetic counseling and the real value of a summary letter to