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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. Economic issues also loom large, depending upon the pressures and circumstances of their lives. On occasion, there is an unwillingness to continue pregnancy when a partner has suffered from the same later onset disorder. Marital ambiguity about the abortion decision can dominate the process and destroy a relationship. Any argument should be relegated to the couple's home, with a request to return when a decision has been made.

The importance of continuing follow‐up visits with couples who have terminated pregnancy for fetal defects cannot be overemphasized. In an important study on the psychosocial sequelae in such cases, White‐van Mourik et al.⁹⁹² showed the long‐range effects. Displays of emotional and somatic symptoms 1–2 years after abortion were not rare and included partners. Although some couples grew closer in their relationships, separations, especially because of failed communication, increased irritability, and intolerance, were noted in 12 percent of the 84 patients studied.⁹⁹³ Marital discord in these circumstances has been noted previously.^{993, 994} At least 50 percent of couples admitted to having problems in their sexual relationship. In addition, many couples indicated changed behavior toward their existing children, including overprotectiveness, anxiety, irritability, and subsequent guilt and indifference (Table 1.9).⁹⁹² Women with secondary infertility and those younger than 21 years of age (or immature women) had the most prolonged emotional, physical, and social difficulties.⁹⁹² After a loss of a child, with or without an anomaly, between 10 and 25 percent of distressed parents have disturbed emotional stability and adverse mental and physical health effects.⁹⁹⁵ Anticipated grief experienced by mothers, especially those faced with a third‐trimester diagnosis of a lethal fetal abnormality, requires psychological help with preparedness. Empathy and sensitivity are critical at these intensely painful times and mature counseling and nonjudgmental support are vital to help parents cope.

Table 1.9 The frequency of emotions and somatic symptoms of 84 women and 68 men: overall and 24 months after terminating a pregnancy for fetal abnormality.

	Overall		24 months after termination
	Women (%)	Men (%)	Women (%)	Men (%)
Feeling
Sadness	95	85	60	47
Depression	79	47	12	6
Anger	78	33	27	7
Fear	77	37	46	17
Guilt	68	22	33	7
Failure	61	26	24	14
Shame	40	9	18	4
Vulnerability	35	0	18	0
Relief	30	32	16	16
Isolation	27	20	11	6
Numbness	23	0	0	0
Panic spells	20	0	5	0
Withdrawal	0	32	0	13
Left out	0	12	0	0
Somatic symptom
Crying	82	50	22	5
Irritable	67	38	19	3
No concentration	57	41	7	1
Listlessness	56	17	2	0
Sleeplessness	47	19	2	1
Tiredness	42	21	6	3
Loss of appetite	31	10	0	0
Nightmares	24	7	5	0
Palpitations	17	‐	6	0
Headaches	9	8	2	0

Source: White‐van Mourik et al. 1992.⁹⁹² Rproduced with permission of John Wiley and Sons.

Grief counseling becomes part of the consultation after elective termination, in which full recognition of bereavement is necessary (see Chapter 33). Compassion fatigue, characterized as feeling overwhelmed by experiencing patients' suffering,⁹⁹⁶ mainly in cancer genetic counseling, is not likely to be an issue in prenatal genetic counseling. The psychology of mourning has been thoroughly explored^997–999 (see Chapter 33). Worden emphasized how important it is for a bereaved individual to complete each of four stages in the mourning process:⁹⁹⁸

1 Acceptance of the loss.

2 Resolving the pain of grieving.

3 Adjusting to life without the expected child.

4 Placing the loss in perspective.

The importance of allowing parents the option of holding the fetus (or later, the child), when appropriate, is well recognized.^{1000, 1001} These authors have also called attention to the complex tasks of mourning for a woman who is faced with one abnormal twin when pregnancy reduction or birth might occur.

Notwithstanding anticipated loss and grief, Seller et al.,¹⁰⁰¹ reflecting our own experience, emphasized that many couples recover from the trauma of fetal loss “surprisingly quickly.” Insinuation of this reality is helpful to couples in consultations both before and after elective termination. Moreover, couples' orientation toward the grieving process achieves an important balance when they gain sufficient insight into the long‐term emotional, physical, economic, and social consequences they might have needed to contemplate if prenatal diagnosis had not been available.