What Are Epicanthal Folds Will They Disappear As My Babys Facial Features Grow

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he could cruise along furniture, but he could not walk alone, and he was yet to speak. Again and again the experts went over the same questions. It was now obvious that something was seriously wrong, but still no one knew the cause. To the neurologist, the only hints of an underlying problem were subtle oddities in his face. Michael's head was somewhat large compared to his body, the distance between his eyes was a little more than it should be, and his palate had a higher than usual arch. Still, anyone who watched him eat an ice cream cone would see a handsome child. If he had not been developing too slowly, no doctor would have thought twice about his facial features.

Like thousands of other children each year, Michael was diagnosed with pervasive developmental disorder, sometimes called PDD, a term that at best loosely defines a child's problem but gives no hint to its cause. The clinical team arranged for an intensive program of physical therapy and speech therapy, part of a coordinated effort to maximize Michael's development, even though no one knew what was wrong. Although he realized that they would almost certainly be normal, the neurologist ordered a CT scan of Michael's head and a blood test to study his chromosomes. He also referred Michael to a clinical geneticist.

Mrs. O'Brian was by now pretty far along in another pregnancy. Very busy, hopeful that therapy would bring good improvement, she did not bring Michael to the genetics clinic. In April of 1987, she gave birth to a healthy daughter who developed normally. The following autumn, she took Michael, now 3 years old and still quite delayed, to see a geneticist.

The clinical geneticist paid particular attention to the question of whether or not Michael had unusual facial features. He agreed that Michael had a relatively large head; in addition, he noted that Michael had epicanthal folds—a little extra tissue over the inner part of his eyes (common in Asian people)—and that he had small, slightly thick ears. He also thought that Michael had somewhat loose joints, giving his limbs a large range of motion. Unlike the neurologist, he thought that the little boy's palate was normal. As is routine for examinations of children when subtle physical findings are being considered, the geneticist also examined Michael's parents. After looking at a photo of Michael's father at age 3 and examining his face during the office visit, he concluded that the slightly unusual features noted in Michael had been present in his dad during his childhood. Such familial variants are rarely of much help in explaining developmental delay. Unable to establish a diagnosis or to suggest further tests, the geneticist took a conservative approach. In his consultation note to Michael's medical chart, he advised further evaluation if and when the O'Brians decided to have another child, and he asked to see Michael again in one year.

Perhaps deciding that physicians had no more to offer them, the O'Brians did not stay in touch with the specialists. In 1991 they gave birth to a second son who soon fell behind in his development. In 1993 a different physician ordered a newly available DNA test. It revealed that Michael and his younger brother had a hereditary form of mental retardation called Fragile X syndrome. Soon after learning the diagnosis, the O'Brians sued the clinical geneticist who had examined Michael. They claimed that if the geneticist had correctly diagnosed Michael, they would have learned of the high recurrence risk they faced for having a son with the same disorder in any future pregnancy, and they would have acted to avoid that outcome. Cases like these are often called wrongful birth lawsuits.

Fragile X Syndrome

The elucidation of Fragile X syndrome began in the 1940s when two doctors named Martin and Bell described a family in which some of the men had severe mental retardation and unusual physical features including a big head, simple cupped ears, a long face, and unusually large testicles. The pedigree, in which no women were affected, suggested a mutation on the X chromosome causing mental retardation. In 1969 a geneticist named Herb Lubs serendipitously noticed that when they were grown in a culture broth that was low in a vitamin called folate, the cells of a patient with an undiagnosed mental retardation contained X chromosomes that looked like they were broken. Over the ensuing decade, a number of research groups, following up on these isolated observations, made one of the most important advances in our understanding of mental retardation. In studying the cells of men living in large state facilities for the mentally retarded, they found that as many as 5-10% had X chromosomes that under the microscope looked broken when the cells had been grown in the broth without folate.

As they turned from studying institutionalized populations to other groups, scientists found that Fragile X syndrome was a common form of mental retardation. By the 1980s, we knew that about 1 in 1250 boys is born with the condition. We also knew that before they reach adolescence these boys look relatively normal; only as they leave childhood do the facial features become more striking and do the testicles tend to become unusually large. Furthermore, it became clear that the disorder is variable. Some persons have almost no features associated with the disorder and are mildly affected; other persons may be severely retarded.

In 1987, the year that Michael O'Brian was evaluated by the clinical geneticist, scientists had not yet found the gene that causes Fragile X syndrome, and no one knew why there was such a large range (from mild to severe retardation) of possible expression of the disorder. The test for Fragile X syndrome, which was quite expensive, was good, but not great. It was particularly difficult to use as a prenatal test, and most genetic labs were reluctant to offer it for that purpose. Among young boys with unexplained developmental delay, the chances were about 2-3 out of 100 that if a doctor ordered a Fragile X test the results would be positive.

During the 1990s, there was immense progress in understanding the molecular basis for this disorder. Today we know that Fragile X chromosome is caused by an unusual mutation on the long arm of the X chromosome. In affected individuals, a three-base-pair unit of DNA—CAG— that is normally present in a certain range of copy numbers has expanded far beyond its usual length. This disrupts the protein for which the gene codes. It turns out that about a dozen other neurological disorders are caused by similar stuttering mutations in other genes. Although the Fragile X gene has been cloned, we still know relatively little about the biochemical tasks that its protein performs.

Because she bore sons with the disorder, Mrs. O'Brian is a carrier of the condition. One of her two X chromosomes has a longer than normal stretch of these repeating units that expanded further during the formation of her egg cell. Unfortunately, each son arose from an egg that contained the X chromosome with the mutation. Unbeknown to her until the diagnosis was made, every time Kathleen became pregnant, she had a 1 in 4 chance of bearing a son with the disorder (a 1 in 2 chance of having a boy multiplied by a 1 in 2 chance that he had inherited her mutation-bearing chromosome).

Wrongful Birth and Wrongful Life

In essence, Mrs. O'Brian's lawsuit argued that by failing to make the diagnosis of Fragile X syndrome in Michael, the geneticist deprived her of in formation that would have allowed her to avoid the pregnancy that resulted in the birth of a second child with mental retardation.

The first wrongful birth lawsuit in the United States was litigated in the late 1960s by a New Jersey woman who gave birth to a child with severe birth defects caused by the rubella virus, and who subsequently learned that her physician had diagnosed her as having a rubella infection while she was about 15 weeks pregnant. At the time, abortion was illegal in New Jersey, a fact that was crucial to the defense of the malpractice case. The obstetrician argued that he did not warn the woman about her risk of having a child with severe disabilities because the only act she could have then taken to avoid this outcome was illegal. The obstetrician ultimately won the case, despite the fact that the woman could have legally obtained an abortion in New York.

The legal climate changed greatly over the next few years. During the late 1960s and early 1970s, several leading appellate courts issued opinions concerning the dimensions of informed consent in medicine that strongly emphasized the physician's duty to disclose. In January of 1973, the United States Supreme Court handed down Roe v. Wade, which held that there is a constitutionally guaranteed right to privacy, which includes a woman's right to obtain an abortion. It was about then that amniocen-tesis to obtain fetal cells for chromosomal studies became widely available. In 1975, when it was asked to decide a case virtually identical to the New Jersey case alleging failure to warn of the consequences of a rubella infection, the Texas Supreme Court ruled that a woman could sue her physicians for failing to share important risk information.

Over the last 20 years, there have been hundreds of wrongful birth cases brought by women against physicians. Broadly speaking, they fall into one of two categories. Some, like the O'Brian case, claim genetic mal-practice—that a physician failed to make a diagnosis that he or she should have made. Far more common are suits alleging that a doctor failed to warn a woman about a risk that all women (regardless of family history) like her should be told. For example, women who will be 35 at the time they deliver are at much higher risk than 25-year-old women of giving birth to a child with mental retardation due to Down syndrome. This condition, caused by an extra chromosome 21 (usually due to faulty separation of chromosomes as the egg completes a process called meiosis), is easy to diagnose if a woman undergoes amniocentesis to obtain fetal cells for study. During the late 1970s and early 1980s, high courts in a number of states held that physicians caring for pregnant women have a duty to warn them of the age-associated risk of having a fetus with Down syndrome. If a woman who gave birth to an affected child could prove to the jury that the physician had not warned her, she could prevail in a wrongful birth lawsuit that might result in a large monetary award.

The courts struggled mightily to define the dimensions of this new course of action. Judges sharply disagreed on the nature of the injury and proper scope of an award for damages. Unlike most malpractice cases, in wrongful birth cases the physician is not accused of acting or failing to act in a manner that caused an injury. The future of a child with Down syndrome, for example, is determined at the moment of conception when a sperm carrying one copy of chromosome 21 penetrates an egg that has two copies. All genetic disorders begin at conception. This fundamental biological truth caused all but a few state courts to reject lawsuits called "wrongful life" cases that were often filed in parallel with wrongful birth actions.

Wrongful life cases grow out of the same events, but unlike wrongful birth cases in which the woman is the plaintiff, the case is filed in the name of the affected child. In essence, in such cases the child plaintiff must argue that if a physician had properly warned a woman about a risk she faced in childbearing, she would have acted to avoid his or her birth. To many judges it seemed absurd to permit a lawsuit which argued that if proper medical care had been rendered to his or her mother, the plaintiff would not exist. How, judges asked rhetorically again and again, could a court compare the value of a "damaged" life (caused by a genetic disorder) to nonexistence?

The damage issue in wrongful birth cases has also troubled many judges and led state courts to craft solutions that differ substantially in scope from one another. Most courts began their analysis by asserting that a child with mental retardation or some other disorder is still a valued being who enriches the life of his or her family. In calculating damages, this notion of benefit acts as an offset to the dramatic psychological and social impact on a family of having a child with a serious disorder. In many states, judges do not permit a jury which finds that a physician failed to warn a woman about a well-characterized risk to award any damages for emotional harm. They restrict the scope of a monetary award to the spe cial costs of raising such a child, a number that can be large, but is usually much less than the awards made in other kind of "brain-damaged baby" cases where awards for emotional damages often run into the millions.

The Lawsuit

The O'Brian lawsuit, which took nearly five years to get to trial, ultimately came down to just two questions. Did the clinical geneticist who examined Michael on one occasion late in 1987 violate a standard of care in failing to recommend a test for Fragile X syndrome? Should the geneticist and the other physicians involved in caring for Michael and his family have been more forceful in warning about recurrence risk? As the years slipped away and each side became more emotionally and financially involved, all prospects for a settlement vanished. When the case was called, the jury, twelve men and women plucked out of life's routine to decide an issue of high drama, sat for six weeks in a cramped courtroom facing a woman who believed that she had been horribly wronged and a genetic physician who believed that he had done a good job on a hard case and given his best advice.

As the opposing attorneys worked their way through the reams of medical records and volumes of deposition transcripts piled high on their tables, as one after another of the dozens of witnesses who had become involved testified under oath, it became steadily more clear that the outcome would hinge on how the jury regarded the conduct of the clinical geneticist during a few minutes on a December afternoon nearly ten years earlier. Had he done an adequate evaluation of Michael's problem? Should he have ordered a Fragile X test? Did he adequately warn the O'Brians about risk in future pregnancies? To decide those questions the jury had to weigh the geneticist's conduct by the standards existing then, not now. The plaintiffs called two geneticists to testify on their views as to the standard of practice concerning the genetic evaluation of a child with unexplained developmental delay in 1987. I was an expert witness on this matter for the defense.

The plaintiff's attorney, a seasoned malpractice lawyer who favored bright plaid sport coats, was demanding $20,000,000 to settle the case. He left no item unexplored, devoting two full days just to taking the testimony of his two expert witnesses. They made three important points:

(1) In their opinion, during late 1987 the standard of care for a clinical geneticist evaluating a boy with unexplained developmental delay was to routinely order a chromosomal test for Fragile X. (2) Even if that had not been the standard of care, because Michael had facial features that were suggestive of the syndrome, the geneticist should have ordered the test. (3) The physicians had not adequately warned the O'Brians that in cases where a child has a serious developmental disability of unknown cause the recurrence risk for future pregnancies could be as high as 1 in 4.

I was the first witness called by the defense on the morning of the 27th day of the trial. The plaintiff's attorney had deposed me months earlier, at which time he questioned me under oath for hours about my views on these issues. He knew exactly what the defense attorney would ask me, how I would answer, and what he had to do on cross-examination. After reviewing my credentials to establish my competence as an expert, the defense attorney wasted no time in moving the already lengthy trial along. Experts are allowed to give professional opinions. In an easygoing, relaxed manner, like a horseman sure of his mount, he elicited my opinion that in the fall of 1987 it was not yet routine to order a test to rule out Fragile X in every evaluation of a boy with serious developmental delay, that the clinical geneticist had performed a thorough, competent evaluation and decided upon a reasonable course of action, and that the written consultation note in the medical chart clearly indicated that the family had been adequately warned about risk in future pregnancies.

One key piece of my direct examination was that I had, for reasons unrelated to this case, polled several hundred clinical geneticists to determine their opinion about the routine use of Fragile X testing. The vast majority thought that for cases evaluated after 1991, the year the causative gene was cloned and a new, more accurate DNA-based test became available, clinical geneticists should, regardless of the family history and physical exam, test for Fragile X. However, a vast majority also believed that in 1987 it was not standard of care to order the test. My direct examination lasted only about two hours.

The plaintiff's attorney faced a key decision. On the basis of his opinion of the impact of my testimony on the jury and his assessment of how I would handle his hostile cross-examination, he could decide either to wave me off the witness stand or do battle with me. If he said, "No questions, your honor," I would step down, immediately leave the courtroom, and begin to fade from the jury's collective memory. As days passed and the trial continued, the impact of my views might weaken. I had not, after all, been on the stand for that long. If the jury accepted what I said as correct, the plaintiffs would lose the case. Instead of $20,000,000, the attorney would win nothing. In a few seconds, using a mental calculus to which no one else was privy, he decided to try to attack my opinion in the hope of diminishing its weight in the minds of the jurors.

For most of the next four hours, the attorney, having quite accurately identified the weak point in my opinion, hammered away at it. Was Fragile X syndrome the most common genetic form of mental retardation? Yes. Were clinical geneticists aware of that in 1987? Yes. Was the chromosomal test effective at diagnosing affected individuals? Yes. Was it readily available? Yes. Then, why doctor, was the geneticist's failure to order the test not malpractice?

Everything seems so neatly packaged in hindsight. But in a lawsuit you cannot apply today's knowledge to circumstances that arose a decade ago. Geneticists were familiar with Fragile X syndrome in 1987, but not nearly so much as in 1997. A chromosomal test was available, but it was expensive and cumbersome, and it was likely to be diagnostic in young boys with developmental delay only about 3 times in 100. Put another way, a clinical geneticist who sees relatively few patients, many of whom do not have a clear diagnosis, might order Fragile X tests for decades before getting back a positive result. In my view, the geneticist made a judgment call. He had carefully considered Michael's subtle facial features and concluded that they were familial, not that they suggested Fragile X syndrome. In retrospect, he was wrong, but the process he used in reaching his decision was right. The only way he should be held liable, I maintained, is if the standard of care at that time required that all doctors evaluating children like Michael order a Fragile X test. In my view such a standard was not in place. The jury agreed. A week after my testimony the defense attorney called me to say that after being sequestered for only a couple of hours, the jury had found for the defense.

The stakes in this case were much larger than they might appear. In the United States during the seven years from 1984 to 1991, about 10,000-15,000 boys were born with Fragile X syndrome. Most were not diagnosed until they were well along in their childhood, and in thousands of cases their parents, unaware of their genetic risk, had more children who also had a substantial risk of being affected. Girls, too, may have a mild form of the disorder (less severe because their other, normal, X offsets the one with the mutation in about half of their cells, just as it does in hemophilia or muscular dystrophy). There are thousands of families in which two children have Fragile X syndrome. If the O'Brians had won their lawsuit, hundreds of families with a similar history might also have filed wrongful birth lawsuits. The O'Brian suit would have been replayed in every state.

Every lawsuit that contests the standard of care in medicine is more than a dispute between two parties. It is a debate about social policy. At some point, it is right to decide that an expert physician to whom a couple turns for advice has erred in not ordering an easily available test, but we should first establish a rough consensus as to how to determine that the time has come to do this. The best way I know to do this is to ask the experts collectively to decide the matter among themselves and then to publish their decision and live by it. Wrongful birth lawsuits are a painful and inefficient means by which to decide social policy. By their very nature they are retrospective, and every finding of liability resonates throughout the land, stimulating many more lawsuits.

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  • whitney
    What are epicanthal folds will they disappear as my babys facial features grow?
    8 years ago

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