Pregnant women can experience a roller coaster of emotions: bliss, moodiness, excitement – and sometimes anxiety over what types of prenatal testing you should have and what the results really mean.
A campaign launching Friday by the Perinatal Quality Foundation in conjunction with Quest Diagnostics aims to cut through that layer of anxiety by providing straightforward information to help families and health care providers make informed decisions about family planning and pregnancy management. The initiative will use a website, newsletter and events to help people understand the advantages and limitations of tests.
“Education is the key,” says Jean Lea Spitz, executive director of the foundation, whose goal is to improve the quality of obstetrical care. “We want women to be empowered to make decisions about prenatal testing. We find that options for prenatal testing change so rapidly, both physicians and patients tend to be confused. We want to provide all pregnant women the education that they need to navigate the options available to them.”
At the core of the campaign: the creation of an online patient registry through which women who receive prenatal screening during pregnancy will be asked to report results of confirmatory diagnostic tests, which are screenings required to verify an analysis. Researchers can then use this information to assess how good the tests are at finding abnormal chromosomes in cells, which can indicate that a fetus has a birth defect.
One such example is Trisomy 21, which is the most common form of Down syndrome. One in every 691 babies in the U.S. is born with Down syndrome, according to theNational Down Syndrome Society, and about 6,000 babies are born with the syndrome each year.
Determining a test’s predictive value – which measures the accuracy of positive or negative results – is crucial, says Douglas Rabin, medical director for women’s health at Quest, the first lab to join the initiative.
Researchers can better make this assessment through data culled in the online registry, which will launch in 2016, he says. “The registry over time will know predictive values and can personalize” information for women and help them better interpret their own test results. This will lead to informed decisions, Rabin says.
The initiative will also help clarify what the foundation calls the “appropriate use” of highly advanced screening technologies to check on the health of a fetus. These technologies have accelerated in recent years and can sometimes overwhelm families – and even physicians – with the choices and implications.
Tests can be non-invasive, such as blood draws or ultrasounds. Or tests can be invasive, such as an amniocentesis, in which a small sample of fluid is removed from the uterus, or chorionic villus sampling (CVS), in which part of the developing placenta is removed for testing. Both amniocentesis and CVS carry slight risks of miscarriage.
The downside to earlier, more definitive testing in pregnancies can be the painful decision on whether to terminate a pregnancy. That is where the registry and initiative also play an important role by providing the woman and her family with genetic counseling information, support groups and other tools.
Both Spitz and Rabin agree that genetic counseling is essential. “Genetic counseling is critical because genetics have become a marker for information that is essentially the great unknown,” Rabin says. “People want that knowledge.”
In a world where technology can outpace everyday understanding, the foundation hopes to clarify the dizzying array of options for pregnant woman. “Knowledge helps combat anxiety,” Spitz says. “We will help you decide which options … or whether you want to have tests at all.”