Prenatal Genetic Tests: How Have They Escaped FDA-Regulation and What Options Do Potential Litigants Have?

If you are close to someone who has recently been pregnant, you may have heard of noninvasive prenatal tests (NIPTs). These are a type of screening that use DNA from the fetus in a sample of a mother's blood to determine the baby's gender and if the baby is at risk for chromosomal abnormalities.

One laboratory providing this type of test claims that it provides "accurate, reliable results" and can help parents "create a confident plan." The idea is that the detection of an abnormality as early as 10 weeks into a pregnancy can help parents decide whether to terminate the pregnancy or start preparing to raise a child with a certain genetic condition. However, the fact that these tests are not subject to regulations by the Food and Drug Administration casts a shadow of doubt on these statements.

This blog discusses the history of NIPTs, reasons behind the lack of federal regulation, and the potential legal avenues for customers impacted by inaccurate test results.

The Boom of NIPTs

NIPTs hit the market in 2011, after it was discovered that fetuses shed fragments of DNA into mothers' bloodstreams. Before that, the only way to learn genetic information about a fetus was through a process called amniocentesis, a more invasive procedure that utilized a three-inch needle to remove amniotic fluid from the uterus.

In 2012, only four laboratories offered NIPTs, mainly to mothers over the age of 35 and for the purposes of screening for Down syndrome. By 2019, the number of laboratories offering these tests had risen to over 40.

Today, NIPTs are being offered routinely to mothers of all ages and for an ever-growing list of genetic conditions. For example, the lab Natera now offers a test that screens for 25 genetic conditions. Nowadays, the American College of Obstetricians and Gynecologists (ACOG) recommends prenatal genetic screenings for "all pregnant patients regardless of maternal age or risk of chromosomal abnormality."

The global NIPT market was valued at $2.52 billion in 2020 and is expected to grow to $12.61 billion by 2031.

NIPTs Are Not FDA-Approved

While NIPTs perform well at predicting relatively common conditions such as Down syndrome, the waters get murkier with predicting rarer conditions—such as DiGeorge syndrome, which affects one in every 4,000 births, and Prader-Willi syndrome, which affects one in 20,000. The New York Times reported that for DiGeorge syndrome, a positive result has an 81% chance of being wrong. For Prader-Willi, there's a 93% chance of a false positive. But most patient brochures do not even discuss the possibility of false positives.

Despite the fact that over a third of pregnant women in the U.S. undergo NIPTs, these tests are not regulated by the FDA. As lab-developed tests, NIPTs are outside the scope of the FDA's authority. Unlike FDA-regulated tests, NIPTs tests are not registered in a public database, product labeling is not reviewed or approved to ensure its comprehensiveness or accuracy, and there is no requirement for marketing claims to be supported by evidence. Furthermore, there is no government agency with the power to recall faulty tests.

Avenues for Litigation

The good news for patients (and their lawyers) is that a lack of FDA oversight does not necessarily mean a lack of accountability in the case of inaccurate test results.

Here are a few legal theories that may help affected patients get redress:

• Wrongful birth. A wrongful birth claim is based on a defendant (the test provider) either misdiagnosing the condition of the fetus or providing negligent counseling about the condition. In the case of a false negative, there may be a case for a wrongful birth lawsuit. In 2012, a jury in Oregon awarded nearly $3 million under a wrongful birth theory to a couple whose child was born with Down syndrome after a prenatal test failed to detect the condition.
• Medical malpractice. As NIPTs become more commonplace, the failure to offer this type of prenatal testing, warn about the risk of inaccurate results, or offer follow-up testing in the case of a positive result could serve as the basis for a medical malpractice claim. The ACOG recommendation to offer these tests to all pregnant women could be used as evidence of an established standard of care in such lawsuits.
• Misrepresentation and false advertisement. Asserting claims of fraudulent or negligent misrepresentation or false advertisement against the laboratories that develop these tests could help patients get around caps on medical malpractice damages. Patients could argue that they relied on statements on company websites or promotional materials given to them at doctors' offices (such as guarantees of "total confidence in every result") in their decision to continue or terminate pregnancies.

Related Resources:

• FindLaw's Technologist Blog: Jury Finds Theranos Founder Elizabeth Holmes Guilty on Four of Eleven Criminal Charges
• Wrongful Birth and Wrongful Life Lawsuits—FindLaw's Learn About the Law
• Fraudulent Misrepresentation—FindLaw's Learn About the Law