Saving Little Lives : ‘You Have to Individualize These Cases’

We have neither the time nor the inclination for vague philosophy, Dr. Maurice J. Mahoney said one morning as he bolted down the hallway at the Yale-New Haven Medical Center. We are empiric tradesmen.

Mahoney, a professor of pediatrics and human genetics and a leading figure in the field of fetal medicine, could not have found a more descriptive phrase. The new fetal doctors toil in a world devoid of signposts and boundaries. Faced with decisions, they have no guidelines to draw from, neither the officially legislated sort nor the less formal codes produced by hospital committee.

Choices are made case by case, shaped by the individual details they bring with them. Diseases and defects quickly take on an unofficial but clearly delineated pecking order.

The most severe abnormalities are clearly candidates for abortion. Anencephaly, failure of the brain to develop, tops the list. Small-brain development and extensive fluid on the brain--microcephaly and giant hydrocephaly--rank high. So do major kidney failure and the disastrous, inherited metabolic and chromosomal diseases such as Tay-Sachs disease and trisomy 13 and 18, in which an extra chromosome produces severe retardation.

The maladies further down the list are the ones that pull doctors and families into an anguished moral quagmire. Two that most often pose hard choices are Down’s syndrome and spina bifida. Both are associated with retardation and physical handicaps, but severity varies widely from case to case.

Children in Braces

The doctors see spina bifida children in braces jumping about in their hallways. They see others in wheelchairs, or on stretchers.

The doctors see Down’s patients working in stores and restaurants. They see others at age 15, tearing their families apart, temperamental 3-year-olds in adult bodies, screaming and demanding.

Individualize, says Dr. Lawrence D. Platt, professor of obstetrics and gynecology at USC.

“You have to individualize these cases. That’s the only way to handle them. It’s not just what the kid has wrong. It’s who the parents are.”

Platt, an internationally recognized ultrasound expert, is a religious man, an Orthodox Jew. He does not hesitate to place his medicine alongside his faith:

“You cannot ask a religious question to an authority without knowing one thing--who is the person you are asking it for? Who is the individual? Tell me about that individual, the authority will ask. The answer you get from him may be different for two different individuals.”

Platt’s own views are rich in contradictions:

“I don’t know how to separate out the 15-week-old fetus whom I aggressively treat from one whose mother says, terminate. I have a hard time. I live in conflict,” he will say.

Moments later, he will also say: “I cannot allow my personal feelings to get in the way of my scientific knowledge. I don’t believe other people making choices for themselves puts me in conflict. I learn to tolerate, understand other views in the world.”

Everyone has personal boundaries.

Platt knows there are religious scholars who argue that doctors should not even screen for Tay-Sachs disease. This is an invariably fatal disorder in which the child slowly loses muscle control and becomes blind, deaf, paralyzed and retarded, and usually dies by age 5. Genetically caused, it is associated mainly with Eastern European Jews.

No Known Treatment

There is no known treatment, so some see prenatal diagnosis for it simply as a search-and-destroy mission.

So be it, Platt says. He has seen too many families, religious Jewish families, torn apart by the birth of a Tay-Sachs baby. He has seen families lose their religious commitment, come to doubt their God. In his dual role as a doctor and religious leader in his community, Platt hears the questions all the time.

Why did God do this to us? the families want to know. Why?

So this has become a disease Platt would rather screen for, despite his discomfort with abortion. In 1970, about 100 Tay-Sachs babies were born in this country. In 1980, when prenatal diagnosis first became a widespread procedure, there were only 13. That is good enough for Platt.

“You can pin me to the wall now, in terms of what about this next birth defect,” he said. “What about this sex chromosome defect or that metabolic problem? Some live and do fine. The Down’s syndrome babies do better than the trisomy 13s and 18s. Who knows where to draw a line?”

Treatable Diseases

Others wonder whether at least the treatable diseases should not be diagnosed prenatally.

For example, in phenylketonuria, or PKU, an enzyme deficiency prevents the proper breakdown of an amino acid, phenylalanine, that is essential to health. The results can be severe mental retardation and other physical anomalies, but this can be avoided if a PKU newborn, diagnosed at birth, is placed on a permanent diet low in phenylalanine.

Hospitals routinely check all newborns for PKU, but doctors now can also diagnose this disease in the womb. The only reason to do so, however, is to give parents the choice of selective termination.

Choices and ethics are the matter at hand, Platt reminds, but so, too, is a practical question--limited health-care dollars. How much time and commitment should he give to a fetus that will likely not live, or live long, or live well?

What Does Parent Want?

Platt’s response: What does the parent want, and what does the parent understand, and what can the parent handle?

Platt still gets letters from one mother. Her unborn baby had hydrocephaly. Retardation was a certainty, but she did not want to terminate. Following her wishes, Platt’s team simply followed and planned the delivery. In her last letter to Platt, the mother painted what seemed to him a beautiful picture. Beautiful, Platt thought, because she loves this child.

The mother de-emphasized the handicaps. The baby is beautiful, she is this, she talks. Maybe she has a little problem with seeing, maybe a little problem with her gait.

So for this family, saving the fetus with hydrocephaly was right, Platt believes. For other families it would not be.

Philosophy and Guidelines

Some of the doctors, though, once past the philosophy and guidelines, allow that they are still conflicted, with no resolution in sight.

Angela Scioscia, 32, a young physician of energy and intensity at the Yale-New Haven Medical Center, has finished one advanced fellowship studying under John C. Hobbins, Yale professor of obstetrics and gynecology, and is pursuing another one with Mahoney.

When she looks at a couple agonizing over decisions and options, she cannot help but think: A few years ago, we wouldn’t have detected this problem and the baby would have died or been delivered. How many people do you alarm and worry in order to benefit and prevent tragedies?

She cannot shake the ambivalence.

Helping Families

She wonders if she is part of a search-and-destroy mission. Then she reminds herself that she is helping families at a difficult, painful, stressful time. Yes, there is conflict, but either you deal with it or avoid all gray areas and just hide in a nice, safe spot where you never have to confront anything. She would love a world where there is never abortion or malformations or gray areas. But that’s not the world she or these families exist in.

“I don’t know, you get sort of practical,” she said one morning. “If I got too philosophical, I couldn’t find my way out. I don’t know what’s right or wrong. When I started, I didn’t expect this path. I thought I always would do good and right--and would know what it was. Now I don’t know. My certainty grows less each day.”

So not everyone is sure the rules can be left to the practicing doctors, to be decided case by case.

John C. Fletcher, the bioethicist at the National Institutes of Health who has written widely about this field, asks a question: This may be OK for now, but what of the future? Can matters be left to the empiric tradesmen?

Developments on Horizon

Fletcher is not so sure they can be, for, on the horizon, he sees several major scientific developments that will greatly complicate the already muddy picture of fetal medicine.

He eyes, particularly, the nascent but growing use of specific gene probes. Where scientists once used amniocentesis mainly to look at the 23 paired chromosomes, they now are zeroing in on a much finer target--individual genes that cause specific diseases.

The new diagnostic tests result from recent advances in biotechnology. Scientists have started identifying the specific aberrant genes that cause maladies such as hemophilia, sickle-cell anemia, cystic fibrosis, muscular dystrophy, Lesch-Nyhan syndrome and a rare, fatal eye cancer called retinoblastoma. Once these abnormal genes are identified, scientists can synthetically reproduce--clone--them.

Because of the way DNA strands combine only with related strands, these clones then become precision probes for the doctors.

Science Ever Evolving

Combined in a test tube with DNA extracted from fetal cells, the clones will seek out and combine with only those cells that contain similar genetic abnormalities.

The science is ever evolving. Experts believe they eventually will be able, through such gene probes, to diagnose in utero those individuals who will be more susceptible to common diseases such as cancer, diabetes and heart attacks.

Fletcher wonders: Will there be selective terminations based on these diagnoses?

Doctors can now probe for diseases that will not manifest themselves until the fetus is an adult. They have a test for Huntington’s disease, an affliction that does not reveal itself until the person is over 40. Should the person be told what he is carrying? Should a fetus be terminated for this reason?

Abortions Based on Sex

Riding in on top of these questions, Fletcher believes, will be the matter of selectively terminating fetuses because of their sex. This issue now only lurks in the background.

Dr. Greggory R. DeVore, the ultrasound expert and USC associate professor of obstetrics and gynecology, got blind-sided on this once. A couple came to his office at the Genetics Institute in Alhambra, she an actress, he a lawyer, both on their second marriages. They had been referred to DeVore to scan for malformations, and he found none.

The woman then asked about the sex of the fetus. DeVore looked on his screen--sometimes he can see, depending on the fetal position--and he told her it was a girl. The woman began crying, became nearly hysterical. I failed you, I failed you, she sobbed to her husband. They decided to terminate.

DeVore did not hide his anger. I thought you came here because of concern for malformations, he told them. I would never have scanned you for this reason. This is very inappropriate, completely inappropriate.

Giving Fake Reasons

Yet he knew this was not the first or last time he would see a couple terminate based on the sex of the fetus. If they’re going to give you fake reasons, you’re going to be set up sometimes. Every fetal doctor has had isolated instances of this experience.

Fletcher thinks the doctors will begin to see many more. That will be one result, he predicts, when chorionic villi biopsy eventually re places amniocentesis as the chief means of chromosomal and metabolic diagnosis.

CVB, in which a tissue sample is taken from the outer membrane enveloping the fetus early in development, can be done at the ninth or 10th week of pregnancy, and results are available immediately. Amniocentesis cannot be done until the 15th or 16th week, and results take two weeks, by which time the fetus has begun to move and the woman is visibly pregnant.

‘Home-Grown Morality’

Decisions to terminate for such reasons as the fetus’s sex, Fletcher reasons, will be much easier to make at the earlier stage that CVB provides.

“The problems that have come along so far we’ve been able to master,” he said one afternoon, sitting in his office at the National Institutes of Health complex in Bethesda, Md. “We have been able to trust the doctor-patient relationship to resolve problems. It’s been a sort of home-grown, internal morality. The question is, can this simple structure carry the weight of all these new issues? I don’t think so. Everywhere I look I see very weighty issues gathering and growing. What will happen when society gets involved?”

(Although Fletcher is NIH’s house bioethicist, he emphasizes that when he speaks or writes, the views are his, and not official policies or positions of the NIH.)

Practical Reasoning

Fletcher sounds at first like an alarmed opponent of prenatal diagnosis and fetal medicine. As it happens, he is just the opposite. He argues that the problems the field creates cry out for an ambitious expansion of the science, not its restriction.

His reasoning is in part practical.

Modern workingwomen in this era are having babies later and later, and this trend will continue. Whether it’s a good or bad trend, it’s in place, and there will be no give. People just are not going to change their ways of life. So there will be more and more high-risk pregnancies and need for prenatal diagnosis.

Technology will have to shape itself to our life styles. Technology, which dragged society into this quagmire, will now do society’s bidding.

“There’s going to be more and more prenatal diagnosis,” Fletcher said. “The entire human genome (genetic makeup) will be mapped by the year 2000.”

Embryonic Research

The question Fletcher poses: “Are we going to devote as much effort, money and time to developing therapies for these disorders as we have to the diagnosis . . . or is abortion going to become the way to deal with them?”

Unless we are willing to stand pat with abortion as therapy, Fletcher argues, fetal doctors must be given the go-ahead to stride into an even more controversial field--human fetal and embryonic research.

Talking of this, Fletcher paused to choose his words carefully, knowing that what he was about to suggest would draw the anguished wrath of some.

At centers that now offer test-tube fertilization service to infertile women, researchers already can, and do, detect the genetic nature of minuscule four-cell and eight-cell embryos before they are implanted in the women. Embryos that are developing normally get implanted; those that aren’t are discarded.

Would it be moral and ethical, Fletcher asks, to create such test-tube embryos specifically for the purpose of research?

That research, Fletcher argues, should include the rapidly evolving field of genetic engineering. Scientists now tinker in laboratories, trying to change aberrant genes in mice, monkeys, dogs and sheep, hoping one day to do the same with humans. One lab has managed to alter the genes of a sheep fetus, with the help of Dr. Michael R. Harrison, the University of California-San Francisco pediatric surgeon.

The scientists’ progress is slow, however, for the parallels to humans are sometimes shaky. They could learn much from gene-altering experiments with human test-tube embryos.

Prenatal genetic diagnosis is inextricably linked to genetic engineering, Fletcher believes.

Facing the Music

“Now is the time to get behind those research scientists,” he said. “Unless you are willing to raise the rate of abortion and use that as the solution, you have to somehow learn how to do therapy. We must be committed to the idea that it is not wrong to experiment with in vitro (test-tube) embryos. Now is the time to face the music.”

An ethicist such as Fletcher is not the only type whose thoughts wander into controversy in contemplating the future.

You want moral problems? doctors such as Larry Platt and Michael Harrison say. Let us tell you what we are thinking about.

They are thinking about anencephalics, those whose skulls never develop above the forehead. The fetus has no cerebral cortex, only a minute portion of brain stem on top of the spine. Technically, such fetuses are alive, since the stem produces a small amount of electrical activity, but they die quickly after birth, within hours or days. The other organs--the heart, kidneys, liver--often are perfectly normal.

Fetal Organ Transplants

The doctors cannot help but think: These fetuses would be ideal sources of transplant organs. They could put the organs into needy babies still in the womb.

Each year, an estimated 500 infants need new kidneys, 500 need hearts and 500 to 1,000 need livers. Each year, about 3,500 anencephalics are born in the United States.

“The object of the game would be to take the organs out of the ones who can’t be helped and put them into those that can be helped,” said Harrison.

To do this, however, the doctors could not wait hours or days for the anencephalic to expire on its own, for, as the brain stem fails, vital organs lose their blood supply and begin to deteriorate beyond the point where they could be used for transplantation. The doctors would have to intervene.

Changing the Law

The law in all states does not allow them to do this, since, technically, the anencephalic is not brain dead. Efforts are under way in some states, including California, to change the law.

Platt is a doctor who hesitates to stick a needle into a fetus, fearing the potential harm, and he resolutely will not do abortions. His eyes widen with enthusiasm at the thought of fetal organ transplants.

“The thing is, in utero transplantations are more exciting than after birth, because in utero is privileged time with the immune system. You don’t have the rejection problems you get later,” he said. “I personally have no conflict, no problem, with this idea. The anencephalic baby cannot live.”

Fletcher, pondering a future full of gene probes, embryo research and fetal organ transplants, continues to ask his question. Can the doctors handle the moral burden on their own? They are doing the work, coping with the problems. But are they the ones to lead us?

A Different Question

The doctors have a different question: With so many divergent paths, none clearly more correct than the others, how do you lead others? How do you set firm standards?

This, finally, is the question that swirls around all discussion about the newly risen world of fetal medicine. For many of the doctors, it is a question without an answer. They believe this personally as well as professionally, for in their private lives, when the doctors had their own choices to make about pregnancies, they did not all respond in the same manner.

Harrison and his wife, both 43, had a baby six months ago. Amniocentesis at that age was clearly called for, and they had one. They decided before the procedure that if the results were bad, they would terminate the pregnancy. The results showed a normal fetus.

DeVore, father of seven, a Mormon bishop, did not hesitate to put an ultrasound transducer on his wife’s abdomen for the last four pregnancies, when the technology was available. He agonized for weeks, though, over whether to do an amniocentesis during the last pregnancy, when his wife was over 35.

Finally Opted for Test

What would we do with the results? he and his wife asked themselves. Could they consider abortion? If not, why take the test? But if they didn’t, there would be tremendous anxiety to deal with.

At the 20th week, with just enough time left to terminate if the results were bad, they opted for the test. Even then they did not know what they would do. They told themselves they would decide when the results came back. They were spared that, for the results were normal.

Larry Platt swam in a sea of contradiction.

He is an unbounded defender of the choices and knowledge his medicine provides. The suggestion that fetal doctors are meddling with nature lifts him out of his chair.

To not intervene, to let nature take its course? Why, you could say that about health in general. He orates, pacing his office: Let everyone just die, then. We progress in steps. You have to use the tools you possess to get to the next discovery. Put down your tools, and you can’t go on.

Getting to the Moon

Why, it’s like getting to the moon, space travel. Space travel is even more fascinating than medicine. Yes, there was a catastrophic accident, contributed to by human error, but Platt would love nothing more than to be on the next space shuttle. He finds it amazing that man should even attempt to travel in space, to reach the moon. He watches every liftoff and touchdown he can. This is man using who he is, to build and to bridge. Just think of it.

There is, though, the matter of the second pregnancy of his own wife, Wendy, at age 32.

She wanted an amniocentesis.

Platt said no.

Medically speaking, based on facts and statistics, it’s not indicated until you’re 35 unless you have a family history of problems, he explained. The risk before then outweighs the likelihood of finding defects. This is what he tells medical students and physicians all around the country, and so this is what he was telling his wife.

You Don’t Need It

Wendy pointed out that he did amnios for lots of other people under 35, all the time, when they wanted it.

That’s right, that’s right, Platt said. But you don’t need it.

Instead, over the months, he watched his ultrasound screen with anxiety. Their baby developed without problems. Meanwhile, though, Wendy’s best friend, younger than she, gave birth to a baby with Down’s syndrome. Platt believes that his wife, to this day, is upset with him.

He does not know why he refused her an amniocentesis.

“I would hate to admit to a denial thing,” Platt said one recent morning. “But I guess it was partially denial. I guess I was avoiding something.”