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.
5 responses to “A less common motivation for prenatal diagnosis”
Thank you for this thoughtful column. I had an AMA patient this week with an unplanned pregnancy who pursued CVS, not necessarily in “hopes” of an abnormal result, but certainly wanting this information to include in her decision-making process. The preliminary results were normal. As I wait for the final results, I am thankful for your point about continuing to engage in the decision-making process with the patient. Normally I would just call her with the final results and refer her back to her MD, but in fact my set of GC skills might make me the ideal person to help her further explore her decision. A great reminder that “good news” doesn’t mean the same thing to everyone and to keep an open mind about expanding our role.
This is an interesting way to approach the decisions around prenatal diagnosis that perhaps I have not considered before. Thinking back to my clinical experiences I cannot say that I have really encountered these underlying feelings or motivations for testing in an otherwise healthy fetus. However, I also work in a Fetal Care settings in which we see fetuses specifically with birth defects. Patients visit our center in hopes of a diagnosis and/or possible intervention. In many of these cases, without a diagnosis, the outcome can be extremely variable and unpredictable until birth. It is these cases in which I have seen families relieved when there is a genetic diagnosis made as they at least have a more defined prognosis and recurrence risk. It also seems to “justify” the decision of termination if such a decision is made. However, these are often wanted/planned pregnancies (which is different then the situations expressed in the column) yet it may be drawn as a parallel to how “bad” news is interpreted as “good” news. So while it seems clear that these patients need the extra support and counseling, perhaps I should begin to look closer at the less obvious cases as well. Thank you for your insight.
I have had a few patients I suspected of wanting to take the risks of a diagnostic test in order to heighten the chance of miscarriage, but I could never really prove my suspicions nor did the patient ever admit to such wishes.
I also have had two experiences (in five years working in the prenatal setting) in which a patient was either disappointed or upset by “normal” test results. Each situation made a very strong impression on me and changed the way I counsel.
In one situation, my patient was hoping the FISH results from her amnio would reveal T21 in her fetus with a cystic hygroma because the other alternative was SMA “type zero.” Her third child had died from the condition a few days after birth (prior to the current pregnancy), and relative to having a child with SMA, having a child with Down syndrome was desirable. “At least babies with Down syndrome have a chance of survival,” she reasoned. She was devastated when I called with the typically “good news” of normal FISH results and pursued termination of the pregnancy when molecular testing came back a few weeks later diagnosing SMA.
The other situation was a patient who was hoping for a diagnosis of a chromosomal abnormality on amnio karyotype so that she would have justification for terminating her pregnancy. The only abnormality seen on ultrasound was a two-vessel cord, yet one marker was one marker too many for her. Some investigation into her home life revealed that her toddler daughter was hospitalized in serious medical condition at the time, and the idea of terminating a pregnancy was less upsetting to the patient than the thought of having to care for two ill children. After initially panicking over the normal karyotype, she opted to continue the pregnancy, and the baby had no issues after birth. These two particular situations caused me to rethink the meaning of “good news,” and I am very cautious when I use that term with patients.
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