Troubling Questions : Fetal Doctors--They Scan for Defects

Over the last five years, Dr. Greggory R. DeVore has looked at thousands of human hearts, each the size of a thumbnail, and he has learned much from them.

He can measure, in a 15-week-old fetus, the thickness of the heart wall, the size of the aortic valve, the dimensions of the four heart chambers, the number and nature of the heart’s contractions. Drawing on what he has seen, DeVore usually can recognize when something is wrong.

That makes him proud. He describes himself as a “fetal advocate.”

But there are days when his skill leads to a fetus’s demise.

One morning in his office at the Genetics Institute in Alhambra, aiming his ultrasound machine at a pregnant woman’s abdomen, DeVore saw on the sonar screen one slightly dilated fetal kidney, a small, incidental malformation that could be easily treated.

The woman was reassured.

Eager to refine his knowledge of fetal hearts, DeVore then chose to look also at the cardiovascular system. He found another malformation, a small hole in the heart, a sort that often closes on its own. He felt pleased with his ability to spot such a subtle defect.

But this added news frightened the woman, and she decided to terminate her pregnancy. When she told him, DeVore winced, fighting a vague apprehension.

If I had not done that, if I hadn’t been so thorough, that fetus would be fine, he thought. A lot of folks are born with holes in their hearts and they close after birth. I wish I hadn’t turned on the machine.

This is the conflicted world of the newly evolved, highly specialized fetal doctors. Their ability to see and diagnose defects has far outpaced their ability to cure them, or even to describe accurately how they will affect the babies. The chief therapy for most problems remains selective abortion.

Unborn Patient

The doctors’ science, transforming the amorphous embryo into an unborn patient, has far outstripped their community’s concepts about the nature of the fetus. Troubling questions for everyone, on all sides of the abortion debate, arise about the moral status of the pre-viable but treatable fetus. Concepts such as eugenics and euthanasia take ever larger form. Advancing technology already on the horizon promises even greater complexities.

Above all, the doctors deal with uncertainty, moral and medical. Most cases present several choices, none clearly better than the others.

Many diagnoses and prognoses are ambiguous. Doctors can see a microscopic nick on the tip of a chromosome but they cannot always say what it will mean. They can tell a mother her baby will have spina bifida or Down’s syndrome, but they cannot tell her whether it will walk or talk.

Doctors can keep fetuses alive that would not have survived in the past, draining dangerous fluids from heads and kidneys, but when born these babies sometimes are badly retarded or need constant dialysis for chronic kidney failure.

Mistaken diagnoses at times lead to termination of healthy fetuses. Overlooked defects lead to the birth of badly damaged babies.

Defects found late in pregnancies, past the time for a legal abortion, force hard decisions about the risks and benefits of intervening aggressively at birth with such procedures as a Caesarean section.

Some Defects Treatable

Some defects can be easily treated after birth and raise questions about whether they should be diagnosed at all, when the only alternative would be to terminate.

Some couples use prenatal diagnosis to learn the sex of their fetus, and abort if it is not what they want.

Knowing of these difficulties, more and more couples are still turning to prenatal diagnoses, three times as many as just a decade ago. Where the doctors once saw only older women, who are at higher risk, they now also see many younger women under 35. Some seek reassurance, some seek a perfect baby. Some come because a cautious family physician, worrying about lawsuits, wanted a specialist’s opinion.

So doctors and patients alike wrestle with an overwhelming wealth of information not available five years ago. Once, babies were either born or they were not. Now there are options.

Growing Group of Experts

DeVore, 40, an associate professor of obstetrics and gynecology at USC, is among a small but growing group of fetal-maternal experts who face these issues every week. Others include two whom DeVore studied under at the Yale University Medical School, obstetrician John C. Hobbins and pediatrician-medical geneticist Maurice J. Mahoney.

DeVore’s colleagues at the private Genetics Institute and at Women’s Hospital in the Los Angeles County-USC Medical Center include Lawrence D. Platt, USC professor of obstetrics and gynecology; Janet Horenstein, USC assistant professor of obstetrics and gynecology, and Robert Wassman, a pediatrician and medical geneticist.

They all offer much the same comment about their work. They have little time for philosophy, they say. They are willing to steel their minds and live with complexity and gray areas. They accept their perpetual uncertainty.

The doctors’ use of language colors the world of fetal medicine in a manner that is at once obvious and unexamined by those in the field.

Termination, Not Abortion

Termination is a word heard regularly, abortion almost never.

The blurred images that fill screen after screen, day after day, get called all manner of names. Dr. Michael R. Harrison at the University of California-San Francisco Medical Center refers to them as “the kids” and sometimes “that guy.” Dr. Angela Scioscia, who works with Hobbins and Mahoney at Yale, calls them “the babies,” unless she decides they are “little turkeys.” Hobbins usually stays with “the embryo.” Platt tends toward “the fetus.”

The doctors talk without disguise about their limitations, but they also point to triumphant moments when lives are helped and saved. If all our cases ended with abortion or badly malformed babies, they say, we would not do what we do.

Couples with known genetic risks or a previous malformed child, who never would have considered having more children, now go forward with pregnancies. Fetuses that would not have survived now are born healthy because doctors can judge when and how to deliver, and arrange for pediatric surgeons to be present in the delivery room, ready to perform immediate procedures.

Happy Outcomes

So there are stories with happy outcomes.

A pregnant woman came to DeVore, already diagnosed through amniocentesis as carrying a fetus with Down’s syndrome, a chromosomal defect resulting in retardation of widely varying severity. Many Down’s children can live full and happy lives. Sometimes, though, the retardation is accompanied by severe heart malformations, which create greater problems.

If the heart is normal, patients often tell DeVore, we will keep this Down’s baby, but only if it is normal.

That was what this woman was saying, sitting across from DeVore.

He is a soft-spoken, religious man, a Mormon bishop and the father of seven.

DeVore studied his ultrasound screen.

The use of ultrasound waves for medical evaluations is not new, having been first used experimentally in the 1950s, but the techniques and machinery DeVore employs are the products of refinements made only in the last three years.

An ultrasound machine, an adaptation of the sonar method used by the U.S. Navy in World War II to detect enemy submarines, works much like the guidance system for a whale or a bat. It sends inaudible high-frequency sound waves through a transducer, a small hand-held device that the doctor moves slowly across the pregnant woman’s abdomen.

The sound waves reflect off fetal tissue and organs in varying patterns, which are translated by computer and projected on a video screen, creating a blurred, translucent image of the fetus.

Women’s Amazed Delight

The most advanced machines now provide images good enough that pregnant women often stare in amazed delight at the screen, waving and talking to their fetuses as they roll and kick before their eyes. The machine, however, requires an educated, practiced eye to sort out the blurred gray shapes and understand what they mean.

It was just such a skill that DeVore now summoned. On the screen, he watched the contractions of the heart wall. By placing and measuring electronic markers on the screen, he gauged whether the heart wall was unusually thick, a condition that results when the heart has been pumping too hard, trying to overcome a problem.

He looked for malformations in the chambers. He searched for the ominous black pockets that are evidence of fluid buildup. He studied the shape of the skull and searched for excess fat around the neck, linked by some to Down’s babies.

He considered.

‘Heart Looks Fine’

What he was doing had only been put into clinical use with patients during the last two years. He knew some other doctors did not believe or trust his work, but he believed that was because they did not know enough about his field, echocardiography.

He knew his burden. To conclude whether a thumbnail-sized heart was normal probably would decide the fetus’s fate and affect the parents in unknown ways. If someone is going to terminate a pregnancy based on my diagnosis, he told himself, I’m going to be sure. But then he thought: We’re not perfect. We’re not God.

“The heart looks fine,” he told the woman.

She decided to continue the pregnancy. The baby was born without a heart defect.

“I asked her after she had the baby, how much did it really make a difference what I had diagnosed,” DeVore said recently. “She said it made a tremendous difference. ‘When you told me my baby’s heart was normal, I could then have the courage to continue the pregnancy.’

‘Other Side of Coin’

“That’s the other side of the coin. If we don’t do what we do, people would terminate. Parents tell us that. That’s how we approach this and that’s how we justify it. We’re not close to being right-to-lifers, but we are trying to help and prevent. We take the good with the bad. That’s why I can keep doing this work.”

Much of the time, however, the doctors face situations where they simply cannot provide clear, certain answers, even though they know couples are going to make life-and-death decisions based on what they say.

As Maurice Mahoney sat at his desk in the Yale-New Haven Medical Center one morning, staring at test results, he looked pained. He knew he had just such a case before him.

Tall, lanky, sometimes darkly contemplative, Mahoney in running shoes devours the medical center’s hallways with such outsized strides that those walking with him must break into a jog. The father of six, he entered pediatrics because he likes children.

A Still Risky Test

His patient, a 40-year-old woman, had undergone a still risky, experimental test called chorionic villi biopsy, in which a tissue sample is taken from the outer membrane enveloping the fetus early in development.

CVB detects most of the same abnormalities that amniocentesis does but much earlier, by the ninth week. Results of amniocentesis, in which a small amount of amniotic fluid is withdrawn by means of a needle inserted through the abdomen, are not available until about the 18th week.

Mahoney had before him what the CVB said about this fetus’s chromosomes.

A normal person’s cells have 23 matched pairs of chromosomes, ordered by number from the largest to the smallest. One of the most common types of chromosomal abnormalities is trisomy, an extra chromosome, three rather than a pair of a particular number.

An extra 21st chromosome, trisomy 21, means Down’s syndrome. Trisomies 13 and 18 cause even more severe retardation. Doctors rarely see fetuses with most other trisomies, because they spontaneously abort early after conception.

Bad but Uncertain News

But the test results on Mahoney’s patient indicated trisomy 7, which in its pure form always results in spontaneous abortion.

If the results were accurate, the fetus was doomed. But were they? Mahoney knew the experimental CVB test could have gathered irregular cells not representative of the fetus. Or the trisomy might be present in only a few of the fetus’s cells, something the scientists call mosaicism.

Mahoney sighed. He would have to call the couple that night and present them not only with bad news, but uncertain news. He would urge them to wait a few weeks until they could do an amniocentesis. He hoped that what he said would not frighten them into premature termination.

That night on the phone the couple said only that they would think things over.

The next morning, Mahoney saw further results that showed some cells in the sample to be normal. This fetus was not a pure trisomy 7; this one was either perfectly fine or mosaic, in which case it could survive but have some problems.

25% Chance of Trisomy 7

Mahoney calculated that there now was no more than a 25% chance trisomy 7 was involved in some way. If an amniocentesis at 15 weeks and a fetal blood test at 19 weeks yielded normal results, the chance of any trisomy 7 cells in the baby would be down to 1% or 2%.

But if the couple waited that long, the fetus would be approaching 20 weeks. They very much did not want to have a late abortion, after the fetus had started moving and was physically apparent. That was why they had agreed to the CVB.

Midway through the afternoon, the couple called Mahoney. They had decided to terminate the pregnancy.

This baby was normal, Mahoney thought. That’s the probability.

After the phone call, he sat silently, cupping his hands together, his eyes fixed at a distant spot on the far wall.

“I feel uncomfortable to a degree,” he said slowly, choosing each word with care. “But not so uncomfortable as to change what I do here. . . . There is a recognition that we aren’t perfect, that our attempts to improve people’s lives do a fair amount of good and also cause problems.”

An Uncertain Prognosis

That same week, Mahoney’s colleague John Hobbins also watched an uncertain prognosis lead to a termination.

The fetus looked fine, until Hobbins started measuring. He gauged the circumference of the head, the length of the leg, the width of the chest. They were all too small, way too small. Growth was a full month behind schedule.

Over the next few days, during many phone conversations, Hobbins talked to the couple for four hours.

When they had got the mother off her feet, growth started, fluid built up. Maybe the fetus was OK, maybe it would catch up. Still, when the couple asked if the baby was damaged, what could he say? Perhaps its lungs were underdeveloped, or it had suffered neurologic damage from a virus.

The couple finally decided to terminate the pregnancy.

Hobbins by nature is a cheerful man with boundless enthusiasm, perennially smiling and gregarious. The newly evolved technology has transformed what he does, opening new avenues of treatment, making work for him fun, something very exciting.

Troubled by Decision

But he was troubled by this couple’s decision.

“What bothers me,” he said later, “is I think we scared the hell out of them. With our inadvertent meddling, maybe we gave them more information than they could handle.”

The range of severity in certain maladies makes giving precise prognoses all the more difficult.

Doctors can see fluid on the brain, and they can call it hydrocephalus, but they cannot say how greatly the baby will be retarded. My machine doesn’t measure IQ, Larry Platt always tells his patients.

Platt, 38, talks like that to pregnant mothers, patiently but bluntly. An internationally recognized ultrasound specialist, he is a stocky man of medium height and unceasing energy who runs his office at Women’s Hospital like a master of ceremonies, ushering visitors in and out, taking phone calls, making introductions, playing matchmaker.

Neural tube defects such as spina bifida, where the spine does not close, are among the toughest for him to judge.

Surgery Sometimes Works

Spina bifida is associated with mental and physical defects that vary in degree from mild to severe. Often it involves retardation, lower limb paralysis and lack of bowel and bladder control. Sometimes the defect can be surgically corrected after birth. Sometimes the child does OK on his own. Sometimes the child never walks.

Platt, searching for the words to explain this, thinks to himself: We walk on fine lines all the time.

The couples listen to him, then stare back, expressionless, with no idea of what to do.

Hobbins sees much the same at Yale.

“In the past, we used to just diagnose spina bifida,” Hobbins said. “Now with our more sophisticated stuff, we can tell how big and high on the spine the deformity is. The higher and bigger, the worse the spina bifida is. So that gets us into deciding quality of life. It puts pressure on us to be very accurate.”

How does he deal with that burden?

“Through a lot of waffling,” Hobbins said.

Even Greater Worries

Most of the doctors harbor even greater worries than incorrectly diagnosing a defect. Their greatest fear is that they might intervene to save a doomed fetus, only to have it born severely damaged.

There was, for example, the first blocked bladder Larry Platt ever treated.

The pregnant woman had flown in from Las Vegas, her fetus’s urinary tract obstructed, the bladder looking on the ultrasound screen the size of a watermelon. They discussed risks and choices, and finally Platt, watching all the time on his sonar screen, guided his needle through her abdomen right to the fetus’s bladder. Gently, he pushed the point in, and the fluid drained out.

A memorable experience, one that placed Platt and the mother on local television when a station did a series on fetal medicine. The fetus survived in the womb to 36 weeks, longer than it probably would have otherwise, and then they delivered.

Once the baby was out, though, they found that the enlarged bladder had put pressure on the kidneys and damaged them before Platt ever operated. The child has had chronic kidney failure since birth and has been on constant dialysis.

Platt and his colleagues still have mixed feelings about that one. What they did was logical, they told themselves, but did they do these people a favor or not? The mother, a religious woman, happily embraced her infant, although such babies tend to deteriorate physically and mentally over time. Some pediatric specialists thought Platt was crazy, thought he should have left the fetus alone. One would not talk to him.

‘She Elected to Pray’

“Who knows who’s right?” Platt said. “If this baby gets a kidney transplant, it does well maybe. He’s 3 years old now and alive. The next lady who came through the door with the same thing, the kidneys looking even worse, we offered her all the same options and she elected to do nothing but pray. We watched that kid get better in utero without us doing anything. A third time, we had the same type thing, we put one needle in, once, and after that one needle the fetus got better, was fine.”

Platt was pacing up and down his small examination room as he spoke.

“What this tells me is that I don’t know the rules of the game yet. Are we tampering with nature? people ask. Oh, sure. But we’re tampering by doing Caesarean sections all of the time. Everything begins with, should we do nothing? In other words, is it ‘God’s creature,’ God’s will? I believe God’s will is for us to be educated. God’s will is for us to learn and study and to improve life.”

Like his colleague DeVore, Platt is religious, an Orthodox Jew whose faith allows abortion only if the mother’s life is endangered. Neither doctor will themselves do abortions.

Sometimes, though, Platt finds himself cast as an abortionist.

Doctor Responded Icily

One morning, a young woman, 20 weeks pregnant, decided to terminate after Platt saw that her fetus had hydrops, its belly and chest a huge black blob, full of fluid. It was Platt’s task to call the woman’s treating obstetrician with the news.

That doctor responded icily. She did not want to see her patient again until after the abortion. You know I’m an ardent right-to-lifer, she told Platt. I won’t do any good in this case.

Platt drew a breath before responding.

“I want you to understand that abortion doesn’t come easy to us either,” he finally said. “I’m an Orthodox Jew and my partner is a Mormon bishop. We don’t do the procedure ourselves. But we don’t want to abandon patients. Where would your patient turn to?”

The exchange left him feeling uncomfortable. The other doctor’s tone suggested that Platt’s job was mainly a search-and-destroy mission. He tried to ignore his discomfort, hoped it would just go away.

Then he told himself: I am willing to be uncomfortable.

Doctors sometimes see problems where there are none, creating at the very least unwarranted anxiety.

Woman Nearly Hysterical

One day, DeVore saw a pregnant woman, 35 weeks along, who had been scanned in a doctor’s office by a traveling ultrasound technician. She had been told her baby was a dwarf. For confirmation, her doctor had sent her to a local maternal-fetal specialist at a nearby hospital. The specialist had said the baby’s not a dwarf but it has bad kidneys, polycystic kidneys. One doctor had told her that’s lethal, another that it could be treated.

By the time she reached DeVore, the woman was nearly hysterical. He scanned her and couldn’t understand what was going on. This was not a dwarf, the kidneys were normal, the bladder present, the fluid normal. This fetus was absolutely fine.

“Go home, don’t worry, there is nothing wrong with this baby,” he told the mother. “You will have a nice, normal baby.”

Sometimes, such misguided diagnoses lead to unwarranted terminations.

Mahoney remembers one such case.

Dysplastic Fingernails

A couple’s firstborn suffered from a particular type of mental retardation and organ malformation that was marked physically by small dysplastic fingernails. During the second pregnancy, Mahoney and his colleagues were asked to examine the fetus.

This was not the type of problem that would show up on amniocentesis, and the sonar screen could not provide a fine enough image. They used instead a fetoscope, essentially a tiny spaghetti-thin periscope, inserting it through the abdomen so they could look directly at the fetus’s fingers in the womb.

It was, as always, a judgment call. They had limited experience then, and the few other cases they had seen had been during varying points of gestation. Still, Hobbins and Mahoney both agreed that it seemed like the fingernails were malformed. The fetus looked afflicted.

The family decided to terminate. Afterward, Mahoney studied the tiny abortus. Try as he might, he could not convince himself that the fingernails were abnormal. Nor could Hobbins or the pathologist.

Mahoney Bothered

Mahoney was more bothered than the family. On the one hand, he felt unwilling to do such a diagnosis again, given his limited ability. On the other hand, not to try again was to obstruct the learning process.

Mahoney also wondered about something else. Would he feel worse if he had told the family the baby was OK, and it was not?

He still is not sure about the answers.

At any rate, few such troubling cases stay in his mind.

“I let them go,” he said late one Friday afternoon. “There are too many new ones next week. If I were a philosopher, I might dwell on them. But I and most physicians are empiric tradesmen. That’s what we really are--empiric tradesmen.”