As I explore a woman’s capabilities and values in decision making regarding pregnancy and testing, I sometimes uncover unexpected underlying motivations for the genetics consultation. One area that intrigues me and is not often discussed (if at all) in the literature is the desire for what is typically deemed a “poor” outcome.
I believe it is integral for the prenatal genetic counselor to understand the circumstances surrounding a conception – was this a desired pregnancy? Did it take a long time to conceive? Is the patient ambivalent about the pregnancy? There are times when I have I realized a pregnancy was unplanned and the patient did not wish to continue the pregnancy, but did not feel comfortable with abortion or an adoption plan.
To such individuals, prenatal diagnostic procedures can be the beacon of hope, the ticket to diffusion of responsibility. If a miscarriage occurs as a result of the procedure, the patient can take comfort in the justification that she was testing to ensure the health of her pregnancy and that the miscarriage was beyond her control. If a diagnosis of a chromosomal issue is made, the patient can feel further justified in pursuing an abortion feeling she does not want to bring a child into the world who may experience undue suffering.
If a patient desires a procedure because she has a hope it will increase her odds for miscarriage or the diagnosis of an anomaly and thus, facilitate a more passive act than actively terminating a healthy pregnancy, do you feel the procedure becomes unjustified? In medical world where (gratefully) diagnostic procedures are offered to everyone and termination is available for any reason, I believe the answer is no. But it is a key moment in counseling to explore the meaning/implications of the pregnancy for the patient and the ramifications of both a healthy or atypical outcome after diagnostic testing.
The genetic counseling relationship must extend further in this case when a diagnosis of a healthy fetus with 46 chromosomes is made just as it would when a diagnosis of Trisomy 18 discovered. The genetic counselor must continue to engage in the decision making process regarding the pregnancy, and if she uncovers psychological defenses and processes that are too complex for the GC to work through, she must refer to a social worker/appropriate counselor. Remember, the quality of a decision is often a function of the decision process itself more than outcome. I think if a patient can look back on a decision and feel she spent a great deal of time considering her values, beliefs, and desires, she can feel more comfortable with her choice whether it be to continue, terminate, or make an adoption plan. We can not simply inform the patient the results are “normal” and move on.
We often think about prenatal diagnosis in terms of the quest for the perfect child, the reassurance of a healthy child, the ability to prepare for a child with special needs, and the availability of making decisions in favor of termination the face of a difficult diagnosis. Often prenatal diagnosis is tied to a desired pregnancy where there is parental desire to feel some degree of control over their and their child’s future. But what I am thinking about is in opposition to this, an undesired pregnancy where there is parental desire to have little control over the outcome, to be in a situation where the individual does not wish to bear the burden/responsibility of making a decision against continuing a pregnancy. We must also remember that this all may backfire on the patient if a miscarriage really does occur or if a prenatal diagnosis is actually made. The patient may then begin to feel a great deal of responsibility, remorse, guilt, and shame that was unexpected. You have to be prepared for this as well.
We all make decisions hundreds of times a day that we are not conscious of, not challenged by. Sometimes decisions about prenatal diagnosis appear to clear cut and our patients may even describe them in this way. But we must be astute enough to recognize when this is not the case and engage the patient enough to openly talk about her thoughts and help her anticipate the myriad of potential genetic and emotional outcomes. And we must be prepared to effectively make appropriate referrals when the patient’s psychological dynamics are too complex for our training to unravel and assist.