If I had been paying more attention, I might have noticed the plaque outside the room that the obstetrician was ushering us into: Patient Education. And had I noticed, I almost surely would have been alarmed. I was 20 weeks pregnant with my first child and had just had a 'routine' ultrasound examination. What did I need to be educated about?
But I did not notice, and I was not anxious or on guard. I had enjoyed the sonogram. Expectant parents do. It is a bonding opportunity. It is baby's first video. I had already had amniocentesis several weeks earlier, to check for chromosomal abnormalities associated with so-called elderly gravidas like my 38-year-old self.
I knew that my baby had 23 neatly matching pairs of chromosomes, that her spinal tube had closed and that she did not have a gruesome defect like anencephaly-no brain-that would propel me to have an abortion despite having struggled for years to get pregnant.
Her tone was hesitant, clipped, distinctly not the voice of reassurance.
In sum, I knew my baby was healthy and magnificent, and had gone into the ultrasound expecting added proof of her splendor.
The obstetrician began discussing the scan results. Her tone was hesitant, clipped, distinctly not the voice of reassurance. A siren of panic began wailing in my skull. She said this was fine, that was fine, blah, blah, blah. Come on! I thought angrily. Get to the point! What's wrong with my baby.?
Finally, the doctor came to the problem. The left foot. She said the results were difficult to interpret. The foot was in a funny position in the uterus, crammed down deep in the pelvis, so it could be simply a matter of its position at the moment. But the sonographer had not been able to see the profile of the foot, no matter what angle she came at it from, and that is what happens when you have a clubfoot. My husband and I looked at each other in dumb, grim shock. Clubfoot? Neither of us was sure what a clubfoot was, what it looked like or how bad a defect it was. The term was so thuddingly ugly and Dickensian that we could not help imagining the condition must be ugly and severe.
The obstetrician told us we had a couple of choices. We could go to a university facility for a more in-depth sonogram, or we could just do nothing and go on with the pregnancy. A clubfoot would not affect the course of the pregnancy, she said, and any effort to correct it would have to wait until after the baby was born.
Oh, sure, do nothing and forget all about it-that is a realistic option, I thought bitterly. Thus we started down a rutted path trudged by so many tens of thousands of people each year, that of medical testing and retesting, the contemporary version of consulting the Oracle of Delphi or a platter of entrails. It is a path that is getting bumpier and more perilous by the month, as ever more high-tech assays are added to the list of prognostic options.
And while genetic testing in particular has generated a squall of debate over its ethical, legal and psychic implications, many of the same questions are raised by more widespread technologies like ultrasound. Among them: How do you interpret equivocal or confusing results, and how does a patient react to a test's inherent uncertainty? What do you do -what can you do-with bad news once you have received it? Most important is the taint of eugenics surrounding many of these screens: How perfect must a person be to deserve health insurance, a job, a parent's love, or life itself?
Leaving the obstetrician's office, my husband and I headed for a medical library to do research on clubfoot. The pictures in textbooks were devastating. Some of the feet were extremely deformed, bent in and up at the ankle to form the letter J. Toes and heels were bunched and twisted. The feet were often stunted, and the calves of the clubfoot leg were comparatively underdeveloped. We knew, intellectually, that textbooks use worst-case scenarios to make their point, and we read that clubfeet can vary enormously, from mild and flexible to severe and rigid; but we still felt sick with sorrow to think her foot could be as distorted as some of the pictures before us.
That night, my husband and I did not sleep at all. We wept and wept. Privately, we each pleaded with the universe to make the follow-up sonogram come out normal. We offered up our own body parts in exchange: eyes, arms, feet.
The universe was deaf. The next day, a doctor at a nearby university hospital concurred with the preliminary diagnosis of clubfoot, subtle though the evidence was. 'Good catch!' he said admiringly of the previous sonographer's work.
In the car ride home, I howled so hard I thought the sky would crack; but the sky stayed whole and calm and blue.
A week later, we met with a genetics counselor at a different university to discuss the odds that the clubfoot might not be an isolated defect, but part of a larger genetic syndrome. We had yet another sonogram, performed by doctors with extensive expertise in ultrasound diagnosis. Happily, they were able to rule out larger genetic anomalies, but of the clubfoot they were certain. 'There is a varus deformity of the left foot,' they said bluntly.
I became obsessed with clubfoot, medically and culturally. I learned that for several months to a year our daughter would have to wear a thigh-high cast designed to twist her foot gradually into a normal, usable position. I learned that the cast would have to be changed every week, that casting alone might not work, and she might require one or more operations. As for the asymmetry of her calves, that would be untreatable and permanent.
I read of famous clubfooted figures in history and literature: Lord Byron, Goebbels, the town simpleton in 'Madame Bovary' whose leg had to be amputated after Dr. Bovary tried unsuccessfully to treat the deformity. But I also spoke to mothers of children with clubfeet and was inspired by their stories. They assured me the casts in no way slowed their children down or interfered with motor milestones like crawling. They said that with their feet fixed, the children could walk and run with the best of the nonclubbed masses. Finally, toward the end of my pregnancy, I began to relax.
In late August, I gave birth to a healthy daughter with a lusty set of lungs, a full head of black hair-and no clubfoot at all.
The use of ultrasound scanning during pregnancy is now so widespread it seems almost as banal as taking a patient's blood pressure. Unlike amniocentesis, it is considered safe, noninvasive and painless for both mother and child. Formal studies indicate that 70 percent of all pregnant women get at least one scan, and the true number is probably higher, said Dr. E. O. Horger 3d, chairman of obstetrics and gynecology at the University of South Carolina School of Medicine in Columbia. If a woman does not request ultrasound, many obstetricians will recommend it, as mine did, 'just to see how things are going.' They make that suggestion even though the American College of Obstetricians and Gynecologists, the American Academy of Family Physicians and other medical organizations advise against the routine use of ultrasound in pregnancy.
Ultrasound did not ... in any way lead to an improvement in the newborn's health.
These groups emphatically favor ultrasound when there is medical justification, for example, if the woman begins bleeding or may be carrying twins. But they see no benefit in laissez-faire scanning when the pregnancy is going fine.
Behind that position are the results of a large clinical trial called the Routine Antenatal Diagnostic Imaging with Ultrasound, or Radius, study, published in The New England Journal of Medicine and elsewhere in 1993. In that study, 15,151 women with low-risk pregnancies were randomly assigned to one of two groups. The first received routine ultrasound examinations in the second and third trimesters, while the other group received no sonograms unless there was a problem, like bleeding.
The study found no benefit from routine screening. Ultrasound did not reduce the number of infant deaths during delivery, nor did it in any way lead to an improvement in the newborn's health. More fetal anomalies were picked up in the screened group, but that early detection had no tangible effect, like an increase in abortions, or better care for the newborns. The researchers concluded that universal ultrasound would add millions of dollars to the cost of prenatal care with no payback in better babies.
The response to the study was immediate and furious, and continues resonating. 'Among practitioners, those who did not believe in routine ultrasound now feel justified, while the majority of those who did believe in it have attempted to ignore or discredit the study,' said Dr. Bernard G. Ewigman of the University of Missouri School of Medicine in Columbia, the first author of the report.
... while these mistakes were joyfully resolved, false positives can have devastating outcomes.
Much of the harshest censure of the study has come from doctors who excel in ultrasound diagnosis. They criticize the criteria used in selecting the women. 'They excluded those cases that would automatically warrant a scan, like a patient who's not sure how far along the pregnancy is,' said Dr. John C. Hobbins, director of obstetrics at the University of Colorado Health Sciences Center in Denver. 'By design they narrowed down the study population to the point where it doesn't represent the real world.'.
They also criticize the skills of those who did the scans in the study, complaining that too many birth defects were missed and thus many chances to make a difference in outcome were likewise missed. For example, if a fetus is found to have gastroschisis, in which the bowels protrude through a hole in the abdomen, the newborn has a much better chance of surviving and thriving if it is delivered in the same hospital where the corrective surgery will be performed, rather than having to be moved.
But Dr. Ewigman and others respond that such defects are too rare to justify automatic screening policies, and that the happy stories are more than countered by drawbacks. False positives like mine are said to be very rare, yet without trying I learned of three other women whose fetuses were incorrectly diagnosed as having clubfeet. And while these mistakes were joyfully resolved, false positives can have devastating outcomes. Dr. Horger cited the case of a woman who received an ultrasound diagnosis that her fetus had no kidneys, a fatal condition. She aborted the fetus at 18 weeks, and an autopsy revealed apparently normal kidneys.
More often women receive murky results that are difficult to interpret, but that offer just enough substance to nourish anxiety. During several scans performed in her third pregnancy, a neighbor of mine was told that her baby might have a serious kidney defect. There was nothing to do but wait and worry. Months later, she gave birth to a healthy daughter. Another acquaintance, who is still pregnant, was told after a sonogram that her fetus's eyes were unusually close together. She asked her doctors what it meant and what she should do about it. They did not know, and they suggested more scans. She refused. 'So maybe the baby will look like Lyle Lovett,' she said, maintaining her humor but clearly worried.
Dr. Sheryl Burt Ruzek, a professor of health education at Temple University, said the rampant use of ultrasound 'has created false expectations that by having repeated screenings we can improve the likelihood of a good outcome of pregnancy.' It gives the illusion of perfectibility, but like most medical assays, ultrasound is imperfect. It can find problems where none exist, and, more often, it misses defects that exist. More than half of all defects have been shown to go unnoticed by ultrasound. 'The search for the perfect child is making women very anxious about reproducing,' Dr. Ruzek said. An unfortunate byproduct of expecting perfection is the urge to sue upon arrival of an imperfect baby. Dr. Horger said one of the commonest causes of obstetrical lawsuits is the failure of a doctor to pick up a birth defect on ultrasound. Although the Radius study indicates that early detection of most abnormalities does not do much good anyway, doctors end up screening just to cover their afts.
A particular problem with ultrasound is that while women know that amniocentesis and most prenatal tests are designed to look for defects, they approach their sonogram with optimism. 'They're persuaded they'll be reassured, and will get their first picture of the baby,' said Dr. Gail Geller, a bioethicist at Johns Hopkins University. 'But the physician's training is to find something that might be wrong. There's a cognitive dissonance between practitioners and patients.' Indeed, she said,' physicians can sound almost excited when they find something.' That happened to us, with the doctor who murmured appreciatively, 'Good catch.'
In the end, many researchers said that women should be entitled to have ultrasound and other prenatal tests, but that the process of informed consent must be taken far more seriously than it currently is. Women should be told in detail of the limitations of screening, and of the fact that clinical studies show no benefit to scanning during a normal pregnancy, Dr. Geller said. Nor is it clear that doctors should bother ferreting out every minor aberration-every cleft lip, every excess finger.
We still do not know why our daughter's foot appeared clubbed on three sonograms when it was not. The ultrasound specialists who gave us the final, definitive diagnosis said they stood by their original call and suggested the foot may have corrected itself during the later stages of pregnancy.
I am skeptical. I think this is a case of ambiguity prematurely corseted into certainty, and of insufficient data on all the possible variations of a normal fetal foot (not to mention any other body part) at 20 weeks gestation. I think my child has inherited her mother's unusually supple feet, which can point and twist in many directions and even mimic a clublike contortion. Perhaps my daughter was dreaming that she was a ballerina, flexing her foot into en pointe position, and preparing to dance the dance.
Endnote:
When ScienceWriters asked The New York Times for permission to reprint Angier's article, the Times Rights and Permissions Office responded with a demand for $100 for a one-time use. A telephone call from the SW editor reminded Rights and Permissions of a note in the letter of request pointing out that the article would appear in a publication that would be read by only 1900 NASW members, many of whom were Angier's colleagues at the Times and elsewhere. "We certainly support payments for second rights," R&P was told, "but we've never had to pay more than fifty dollars to anyone else."
There was no progress at this level, so SW asked to talk to the head of R&P, the $50 spread being a matter of some consequence to the SW budget. After a repeat of the earlier conversation, this time with more feeling, R&P supervisor agreed to accept the $50 payment, since this could be managed with no pain to the Times, SW was told, simply by eliminating the usual $50 royalty to the author. In response to a follow-up question from SW, the $50 that went to the Times, it was explained with a trace of exasperation, could not be eliminated instead, since that sum would barely cover the administrative transaction then taking place.
A thorny problem here. NASW has taken a strong position in support of author's rights. Could this deal with the Times be cut in good conscience? An e-mail message to Angier put the question: "Would you be willing, in effect, to make this contribution to your colleagues?"
"Certainly," she replied, "but be sure to add a note explaining this little transaction. Might as well keep the pressure on the Times about royalty payments."
---H.J.L.
Natalie Angier writes about the life sciences for the New York Times. Reprinted with permission from the November 26, 1996, issue of The New York Times. Copyright 1996 The New York Times Company.