Medicolegal Issues

How prenatal genetic testing protects patients—and you

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CASE 3 Physician fails to complete testing

The mother of a developmentally delayed daughter delivered another child. Before she conceived, however, she and her husband consulted a physician (a pediatrician) to find out whether there was a genetic reason for the daughter’s developmental delay and the mental retardation of another child, the girl’s half-brother.3 The physician wrote in her notes: “? Chromosomes + fragile X” to indicate testing planned for the daughter.

The testing was performed at a medical center and reported to be normal. The physician relayed this finding to the parents, but failed to mention that fragile X testing had not been conducted. Because they had discussed fragile X testing during the initial consultation, the mother assumed it had been performed and was included in the normal results.3

The latest child was also developmentally delayed, and subsequent testing revealed that all three children were positive for fragile X syndrome. The parents sued, alleging that the physician was negligent for failing to perform the genetic test, and claiming that they would not have conceived another child if they had known of the daughter’s fragile X status.

Are their claims reasonable?

Despite a state statute that prohibited wrongful birth and wrongful life actions that allege that the pregnancy would have been terminated if the parents had known of the genetic impairment, the state supreme court allowed this case to proceed because the issue was whether the mother would have avoided conception. The plaintiffs also argued that the claim did not exceed the statute of limitations. Their reasoning: Although the medical care had been provided more than 4 years earlier (the limitation period), the injury did not occur (i.e., action did not “accrue”) until conception of the child.

Perhaps most telling was the court’s statement that, “[O]ur decision today is informed by the practical reality of the field of genetic testing and counseling; genetic testing and diagnosis [do] not affect only the patient. Both the patient and her family can benefit from accurate testing and diagnosis. And, conversely, both the patient and her family can be harmed by negligent testing and diagnosis.”3

Establishing degree of harm is especially difficult

As you might imagine, allegations involving potential pregnancy termination arouse intense emotions on both sides of the abortion debate. The determination of damages is equally contentious. Among the issues that may arise at the time of trial:

  • How much is a parent harmed by the birth of a child with hereditary disease?
  • Should damages be offset by the benefit of having any child, even if the child is not “normal”?
  • How do you measure the value of a life with Down syndrome, for example, compared with no life at all?
  • Should damages include the cost of raising the child, including additional medical expenses, which can be substantial?
These and many other serious questions have faced judges and legislators for more than 30 years, and are expected to remain controversial for the foreseeable future.

Assigning blame for genetic disease is difficult

The arguments in cases involving genetic testing often differ from those made when a fetus sustains injury. In the latter, the injury may be caused by the provider—e.g., after administration of a cytotoxic drug during pregnancy or because of induction of labor at a seriously miscalculated gestational age. Legal actions associated with such injury are widely accepted.

In cases involving genetic counseling, however, the disease is not caused by the practitioner. Rather, the plaintiff alleges that the affected child was born because the provider failed to:

  • properly counsel the patient not to conceive
  • offer the parents the option of terminating the pregnancy or
  • successfully prevent or terminate a pregnancy.
At present, quite a few states allow parents to proceed when the action is for what most courts and commentators call “wrongful conception”—i.e., when negligent preconception advice, or a lack of advice, leads to conception and birth of a normal, but unplanned child (this also applies to negligent contraception and sterilization procedures). Actions for wrongful birth are not as widely accepted. Some courts have allowed recovery of some damages for these actions, whereas others have prohibited them, based on state common law principles or existing statutes. And actions by the child—so-called wrongful life actions—are allowed in only a very few states (California, Washington, and New Jersey), and damages are limited even more strictly.4

It would be unwise to base one’s conduct on existing law, which is unpredictable. The law can change if a judge determines that a prior opinion was incorrect, a statute was unconstitutional, or a particular injury justifies compensation. Legislative bodies also can change with an election, and the statutes can be amended. The best strategy for you to deal with this uncertainty? Provide comprehensive prenatal care of the highest quality.

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