How prenatal genetic testing protects patients—and you

This responsibility is complicated by a dramatic increase in the number of genetic tests. Few areas of medical practice have expanded as rapidly as prenatal genetic testing and counseling. Forty years ago, an obstetrician—or even a nurse—might have discussed the risks of pregnancy at an advanced age, as well as a few possible genetic abnormalities. Today, certified genetic counselors are employed by many clinics and even private practices, and more than 1,000 disorders—as many as 1,300, by some reports—can be detected by the proper test.

Although most of these disorders are uncommon, several dozen or so are more prevalent and, therefore, regularly tested for. They include cystic fibrosis, Down syndrome, and neural tube defects, as well as diseases associated with certain religious, racial, or ethnic groups, such as thalassemia (Mediterranean, Asian, or African heritage), Tay-Sachs (Eastern European or Ashkenazi Jewish descent), and sickle cell disease (African-American ancestry).

Ethical complexity makes resolution difficult

Legal actions are bound to increase as technology evolves, particularly when a child is born with a genetically transmissible disorder that could have been identified with proper counseling and testing. These legal actions are particularly difficult to resolve because they involve complex ethical issues. For example, in “wrongful birth” actions, the parents often allege that they would not have conceived a child if they had known that it might be afflicted with a certain trait or illness, or that they would have terminated the pregnancy if they had learned of the disorder in a timely fashion.

In most of these cases, the plaintiffs are the parents. In a few states, however, successful actions have been brought by the child (“wrongful life”), who, some contend, essentially claims that nonexistence would be better than life with a serious congenital condition. They usually seek the extraordinary expense associated with the condition, as well as other damages.

Similar actions have been brought by children, and parents of children, with acquired conditions such as congenital rubella syndrome, as in the opening case. In that scenario, the parents’ case was declined by attorneys because their state of residence did not allow actions for wrongful birth or wrongful life. The state courts subsequently changed the law to allow wrongful birth actions, but by the time the parents learned of the change in the law, the statute of limitations had expired. They therefore added the attorneys as defendants, alleging that they failed to recall the parents when the law changed, in time to file their lawsuit. By the time the case finally reached the state’s supreme court, the law had changed again, and the child was allowed to proceed with a wrongful life action.

CASE 2 Physician mistakes patient’s tissue for fetus’s

Before becoming pregnant, a woman experienced several medical problems that prompted her and her husband to seek genetic testing and counseling. Testing revealed that she had a balanced translocation of chromosomes 11 and 22.²

After conceiving, the woman underwent chorionic villus sampling, which indicated that the fetus was probably a female with the same chromosomal condition as the mother—therefore, she would develop normally. The mother also underwent several ultrasonographic tests to rule out fetal abnormalities and was told that imaging showed a normally developing fetus.

The woman went on to deliver a boy, and genetic testing revealed that he had trisomy 22, with severe, permanent disabilities.² The parents sued.

Were the woman’s health-care providers liable?

This case prompts a number of questions:

• Did the physicians seek confirmation that the tissue studied was fetal?
  
• Did they counsel the parents about the possibility that maternal genetic material might be recovered during sampling? If so, did they consider that possibility when the specimen was identical to the mother’s?
  
• How is it possible that, on subsequent ultrasonographic evaluations, the male sex of the fetus was not noted? If it was noted, did it register with the providers that the result was inconsistent with the genetic studies?
  

Despite the dismissal, which was a favorable turn of events for the physicians, they almost certainly lost substantial work time and experienced the emotional roller-coaster ride that accompanies being sued—not to mention the revelation that they may have harmed a patient.