Maria and her husband learned from a noninvasive prenatal screening (NIPS) test that their unborn child would likely have Down syndrome. With no information about this common genetic condition and scared about their baby’s uncertain future, they made an appointment to terminate the pregnancy, even before undergoing amniocentesis to confirm the test results.
With the advent of NIPS tests, more expectant women than ever are receiving test results from companies preying on their fear of the unknown, marketing enlightenment about genetic “abnormalities” without providing information about the realities of genetic conditions such as Trisomy 21 (Down syndrome).
Sequenom was first to market in 2011 with MaterniT21. Competitors soon followed: Ariosa’s Harmony (now owned by Roche), Verinata’s Verifi (now owned by Illumina) and Natera’s Panorama. Each test of the mother’s blood promises high detection rates and low false negatives.
Most expectant women don’t walk into their first ultrasound expecting and eager to research genetic conditions. They’re excited or nervous or afraid or a combination of all those things — but rarely are they expecting to learn their unborn child has a genetic condition.
That’s where NIPS test manufacturers see their sweet spot: a pregnant woman seeking to learn everything possible about her unborn baby without understanding what that information might mean. “As long as my baby is healthy,” many women say.
And so women ask for or are offered these groundbreaking tests (which, notably, are not conclusive). The results arrive as a mere mathematical probability, and the black hole of information begins to widen.
On whom is the onus to explain the test results and educate an expectant mother about what each condition really means today? OBs, genetic counselors, medical geneticists and midwives should provide expectant mothers with accurate, balanced information about Down syndrome and other genetic conditions.
Mark Leach blogs at Down Syndrome Prenatal Diagnosis and shares the guidelines and resources for medical providers delivering a Down syndrome diagnosis. Stephanie Meredith, whose teenage son has Down syndrome, couldn’t find what she felt other expectant parents deserved to access, so she and her husband created the Lettercase booklet, a resource considered the gold standard by the medical community.
“Our goal with the Lettercase booklet was to make sure that every expectant parent receives the kind of support and accurate information that was so meaningful to us,” Meredith shares.
Despite Meredith’s and Leach’s efforts, medical professionals too often have zero or outdated information on hand, fail to introduce adoption as an alternative to raising a child with Down syndrome or have a blatant bias either toward continuing or terminating the pregnancy. An examination room is no place for personal bias, and a mother receiving an unexpected test result should not be sent on safari to the World Wide Web without professional guidance.
What’s the solution? Why shouldn’t we demand more from companies marketing to expectant mothers’ fear of the unknown and profiting from resulting uncertainty?
March 21 is World Down Syndrome Day, a timely opportunity for companies making millions from NIPS tests to commit to informing the women who receive their results. Providing accurate, balanced information seems a small price to pay for raking in mindboggling profits that are only increased by fear.
As for Maria, after scheduling the abortion, she and her husband discovered the Down Syndrome Diagnosis Network (DSDN), a group formed by moms of children with Down syndrome who saw the need for support and information at every phase of having a child with Down syndrome.
“Accurate, unbiased information helped us decide against abortion,” Maria says, also crediting social media interactions with other parents and research she and her husband did about Targeted Nutritional Intervention.
She found those resources on her own, and today, her 3-month-old daughter is thriving.