Routine Prenatal Genetic Screening in a Public Clinic:
Informed Choice or Moral Imperative?*

INTRODUCTION

Recently the great strides that have been made in our understanding of the human genome have been accompanied by soaring expectations about the potential health benefits of such information. Media accounts about each new morsel of genetic knowledge are often reported in reverent, almost science-fiction-like tones, intimating that the conquest of most human disease and suffering is only a few steps away. These high hopes notwithstanding, at present the clinical application of genetic testing for most conditions is primarily limited to risk modeling: that is, identifying an increased statistical likelihood that an individual with a particular genetic profile may develop a given condition.

To date, prenatal diagnosis is one of the few areas where this increasing genetic knowledge has moved into the mainstream of health care, and is having a tangible impact on a wide cross-section of the population. Improved techniques for screening for Down Syndrome, Neural Tube Defects, and Trisomy 18 make it possible to detect most occurrences of these conditions in the second trimester of a pregnancy. The maternal serum triple-marker blood test, or "Triple Screen", is now a routine part of prenatal care in the United States. It must be emphasized that this is only a screening test, and as such only has the power to indicate an "increased risk" that a fetus is affected by the condition in question. Further testing is required in order to determine the diagnosis. It is this condition, of being classified as having an "at-risk" pregnancy, which will be examined in this paper.

Kenen (1996) has argued that being classified as having an "at-risk" health status includes a set of expected role performances and norms. In the case of prenatal genetic screening, these roles would consist of accepting what Kenen has termed a "diagnostic invitation" and the "gift of knowing."

Because there are no effective therapies for the conditions identified through routine prenatal genetic screening, the benefits of this "gift of knowing" are limited. In fact, the only prevention for these conditions, once identified in a developing fetus, is termination of the pregnancy (Markel 1997). While providing women with such knowledge about their pregnancies does indeed have the potential benefits of informing their reproductive decisions or allowing them to prepare for delivering and caring for an affected child, knowledge is not always power. Having this information may be highly anxiety provoking, confronting the woman with morally fraught issues such as the acceptability of abortion, the value of a disabled child and whether mothering such a child should be viewed as discretionary.

Due to the danger that further testing may inadvertently cause a spontaneous abortion of a healthy fetus, coupled with the ambivalence that surrounds elective abortion in this country, the current ethos of clinical practice calls for the invitation for further testing to be extended in morally neutral terms. Despite this intended neutrality, the very act of offering prenatal diagnosis intrinsically puts forth that possession of this knowledge will be beneficial and empowering (cf. Browner et al. 1999). It is our contention that, for a woman who has not sought out this information, it may be a distinctly disempowering experience to unexpectedly and abruptly find her pregnancy has been classified as "at-risk," based on a routine blood test.

We conducted a study of a group of low income Latinas in Texas who, through the course of routine prenatal care, had received abnormal blood screening results for birth defects. Our analysis of their experiences challenges the assumption that they perceive the offer of further testing in morally neutral terms. In this paper we show that having a pregnancy classified as "at-risk" was experienced by many of these women as a moral imperative to take action "for the good of the baby." Many accepted further testing not so much because they valued the knowledge it would produce, but simply because they felt compelled to remove the pregnancy from the quasi-disease state of being classified as "at-risk". We will argue that, rather than empower them, the unsolicited knowledge provided by prenatal genetic screening carried a moral mandate for them to accept further testing in order to restore their pregnancies to a normal, healthful status.

BACKGROUND

Currently in the United States, women determined to be "at-risk" for Down Syndrome, Neural Tube Defect, or Trisomy 18 based on either their age, prior family history, or an abnormal Triple Screen test result, are routinely offered amniocentesis. Amniocentesis is performed by withdrawing fluid from the amniotic sac with a needle, and then culturing the cells to determine the presence of these genetic and chromosomal defects. While this is a highly accurate test, it bears a number of important risks of its own, most notably that it may cause a miscarriage in about 1 in 200 women.

The protocol of using Triple Screen blood tests followed by amniocentesis has proven capable of identifying most cases of these anomalies (NIH 1996). However, one notable disadvantage of the Triple Screen is that it has a very high false-positive rate. As many as 99% of the pregnancies classified as "at-risk" by the Triple Screen are in fact free from these anomalies. Still, in the eyes of the pregnant woman, once her pregnancy has been classified as "at-risk," she is confronted by the problem of a pregnancy with an ambiguous
health status.

Prenatal genetic screening is unusual as a medical service, in that its value does not lie in managing or curing illness, but instead in simply producing information that generates difficult choices for the patient. Women determined to be "at-risk" are generally provided pertinent information in a "genetics counseling session," and then asked to choose whether or not they want the amniocentesis. The information needed to make an "informed" decision of this sort is of a complex technical nature, contrasting relative risks, and involving terms and ideas which are often not part of the everyday experience of the patient. This
may be particularly true for low-income patients with limited formal education or limited English language skills.

From the health provider's perspective, the patient's decision process regarding accepting or declining amniocentesis is thought to be one of weighing the risk of miscarriage against the value they place on knowing the health status of the fetus. Our research suggests that the patient may not be considering so much these two issues, as she is responding to the prospect of going through the rest of her pregnancy with her baby remaining in an ambiguous state of health.

SETTING AND METHODS

The research was conducted in an outpatient Gyn/Genetics clinic of a large university teaching hospital in south Texas. Services there are provided mostly by medical students and residents, and are overseen by an attending physician. Patients are referred to Gyn/Genetics from a variety of public clinics throughout the city, when they have been determined to be "at-risk" due to their age, family history or an abnormal blood screening. It should be noted that because this blood screening is "routine" in prenatal care, although the women have most likely signed a consent form before being screened, quite commonly they are unaware that they have had such a test, and arrive at the Gyn/Genetics clinic with no clear idea of why they are being sent there. Due to the complications of scheduling and the difficulty of getting patients to return, they are encouraged to decide on the spot whether or not they want the amniocentesis, so that it can be performed preferably that same day.

We interviewed twenty-nine patients from this clinic. All were low-income, self-identified Latinas who had been referred to the clinic for an abnormal Triple Screen test and were subsequently offered amniocentesis. Interviews were conducted in Spanish or English, as the women preferred, and focused on reproductive history, current pregnancy experience, understandings about fetal abnormalities and testing procedures, how decisions about amniocentesis were made, and general experiences and satisfaction with the genetics consult.

FINDINGS

For most of the women in our study, finding that her pregnancy was considered to be "at-risk" came as a shock. Most had not been told by their referring clinic that the reason they were being sent to another clinic was the possibility of a birth defect. Many came to Gyn/Genetics thinking it was a routine Ob/Gyn visit, or having only been told that they had a "bad blood test."

Despite the notably vague way in which these referrals were often made, nearly all of the women understood from the outset that something might be wrong with their babies, and reported feeling very anxious and frightened at finding that out. They consistently described feeling fear and sadness, with many recounting a moment of shock followed by crying, prayer, and loss of sleep.

Interestingly, in their overall discussion of their experiences, the "at-risk" concept was transformed into a very personal and embodied sense of something actually being wrong, and needing to be set right. It should be noted that all of these interviews were done after the women had already received their amniocentesis results, and all but one had gotten a clean bill of health for her baby, so they already knew that this had been a "false alarm." Still, the language they used to describe how they had felt when they found out something could be wrong, indicates that many remembered this as finding out something was wrong. Comments like these were common: "I felt very sad that something was wrong with the baby;" "I was very alarmed, and thought the baby would probably come out with a defect;" and "The Triple Screen test came up that my baby was sick, I think they said he had Down Syndrome."

Thus, it seems that for many, an abnormal screening test produced an alarming sense that their baby was in danger. It seems the idea of being "at-risk" in itself was perceived as a disorder. Once they were told that their pregnancy was "at-risk" the women were offered the opportunity to have an amniocentesis to confirm whether or not there was in fact an abnormality.

In principle, the purpose of prenatal testing is to enable the woman to choose to either terminate the pregnancy, or prepare for the birth of an affected child. If this were the case, one would expect to find that those who would not consider an abortion, or who were prepared to care for any child they may have, would be unwilling to take the risk of an amniocentesis. However, like previous research in this area (Browner et al. 1999) we did not find this to be true.

Most of the women in our study who did accept the amniocentesis said that they would not consider an abortion for themselves, and would want the child regardless of the outcome of the test. Only about a fourth of them said they wanted to be prepared for such a birth, and only three individuals said they accepted the amniocentesis so they might choose to terminate an affected pregnancy. Clearly, most of these women cannot be presumed to be motivated by the supposed goals of informing termination decisions, or preparing for the birth of an affected child. What then might better explain their decision to accept a test that could potentially harm their baby?

Nearly all said that until receiving the blood screening result they had felt their pregnancy was normal and healthy, but that being told their pregnancy was "at-risk" made them very anxious, leaving them with a sense that their baby was in danger. Once this sense of disruption was introduced, accepting the amniocentesis became the only way they could know that the baby was O.K., and return to a sense that they were having a normal pregnancy. As one woman explained it, "It was the most effective way to stop being as frightened as I was, to have something more concrete, an answer." Another commented: "I said to myself, if I don't do this, I'll have this doubt over me the whole time I'm waiting for the birth, and that would be a heavy burden, really, that's why I did it."

The women who accepted amniocentesis were almost unanimous in saying that they wanted to know for sure what was going on, to get rid of the worry and to be reassured of the health of their baby. In responding to the sense of malady that the "at-risk" status had engendered, many viewed accepting the amniocentesis as a way of promoting the welfare of the baby. All but one who had accepted amniocentesis expressed the idea that it was in her baby's best interest to do so. Comments like the following were common: "I was doing it for the good of the baby;" "The doctor said it was good for me and good for the baby;" "I did it for my own sake, and for the baby's sake."

During the time they waited for the amniocentesis results, which took a minimum of two weeks and sometimes longer, most of the women continued to feel anxious. But at the end of the whole experience, once they had received the results, they all said they were no longer anxious, and felt a return to a sense of well-being about
their pregnancy. Interestingly, the one woman who had received a positive diagnosis of Down Syndrome also reported feeling relief once the result was confirmed.

It would seem that for all of these women, the pathology of the "at-risk" health status was effectively dispelled by proceeding with the amniocentesis. The disruption engendered by the abnormal blood test was resolved once the pregnancy moved out of a state of ambiguity.

DISCUSSION

In considering the meaning of being classified as "at-risk," Gifford has argued that, for the patient, the ambiguity of an "at-risk" health status "results in the creation of a new state of being... that is somewhere between health and disease" (Gifford 1986, 215). The women in our study did indeed seem to find themselves in such a "gray area." It should be noted that these women had not sought out diagnostic information about their pregnancies, but instead were suddenly confronted with this gray area in the course of routine prenatal care. For most of them, finding out they were "at-risk" had an iatrogenic effect, transforming what for them had been a normal, healthy pregnancy, into an quasi-disease state which required action to reinstate a sense of well-being.

One is led to wonder if the patient's "right to know" is counterbalanced by a "right not to know" in this nascent field of prenatal genetic diagnosis (Press and Browner 1995). Does the notion of "informed consent" have any salience at all for women who are abruptly confronted by an unsolicited choice about accepting a test, when that test presents the only avenue for resolving this imposed ambiguity? The common clinical assumptions about how patients make prenatal testing decisions may be inaccurate for many women. We suspect this may be particularly true for those who have not sought out this information and have limited knowledge about the disorders in question and the test being offered. For these women, accepting further testing may be less based on a desire for more information about the health status of their baby, than on a sense that they are morally obligated to do whatever is necessary to remove an "at-risk" status from their pregnancy.

*An earlier version of this paper was presented at the Annual Meeting of the American Anthropological Association. San Francisco, CA. November 2000.