A blood test that can predict if a fetus will have Down syndrome is growing in popularity. But because it can lead some couples to end pregnancies, it is sparking a debate.
Disability rights’ advocates, researchers and clinicians note that people are now living longer, healthier and more productive lives with Down syndrome, a genetic condition that causes intellectual disability, developmental delays and certain medical problems.
Advocates worry that wider use of the test, which is more accurate than older noninvasive screenings, will lead more couples to end pregnancies without understanding how life with Down syndrome has dramatically changed for many people. Some researchers and doctors also are concerned that not enough is known yet about the rate of false positives, and that women may not be properly counseled on how to interpret the results.
“The test is a great test, but it needs to be understood before it can be used effectively,” said Mary Norton, a professor of obstetrics, gynecology and reproductive sciences and the University of California, San Francisco, and president of the Perinatal Quality Foundation, which is launching a registry to gather data on test results and pregnancy outcomes.
The test has become intertwined with the politics of abortion. The Ohio Legislature is considering a bill that would make it illegal for doctors to perform an abortion if a woman says her reason is that she doesn’t want to have a baby with Down syndrome. Some states also have laws requiring that up-to-date information about the syndrome be given women who learn their fetuses will have the condition.
Mark Bradford, president of the Jerome Lejeune Foundation USA, which funds research into treatments for genetic intellectual disability and advocates for the protection of life from conception, said prenatal testing should be used to provide information to improve the life of a fetus, such as the need to perform surgery related to Down syndrome. “I don’t believe prenatal diagnosis should be used to terminate a pregnancy,” said Mr. Bradford, the father of a child with the condition.
“Women have the right to know information about their health and their pregnancies,” said Susan Gross, chief medical officer for Natera Inc. of San Carlos, Calif., one of the makers of the test. “Women, when given full information, always make the right decision for themselves and their families,” she added. Natera said it has sold more than 350,000 of its tests, which analyze fetal DNA circulating in the mother’s bloodstream, since launching the product in 2013.
The test, known as a cell-free DNA test, has grown in popularity in part because it may help women avoid invasive procedures such as chorionic villus sampling or amniocentesis, which carry a small risk of miscarriage. Doctors say such tests still are needed to confirm if a blood test indicates a high risk of Down syndrome, which results from extra genetic material on chromosome 21.
In addition to Down syndrome, the tests can predict risk for some other genetic disorders. And researchers are exploring whether the technology can accurately predict other conditions, including single gene disorders such as cystic fibrosis.
In the U.S., obtaining data on how many pregnancies are ended because of Down syndrome is complicated, said Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital. Dr. Skotko, who has a sibling with the syndrome, said a widely cited 2012 paper estimated an average termination rate of 74% in women with a confirmed diagnosis of fetal Down syndrome, but the data came from seven population studies done in just three states.
Using multiple data sets from 1996 to 2010, Dr. Skotko and two other researchers looked at the issue from a different perspective, publishing a paper this year that estimated elective terminations reduced the number of babies born with Down syndrome by 30%. He said the calculations don’t include the time since the cell-free DNA tests were introduced, but he expects their growth will lead to more abortions.
When the tests were first introduced in 2011, they were used in women age 35 or older, or those with a high risk of having a child with Down syndrome. But use has spread amid published data indicating they are accurate in low- and average-risk women, too.A major insurer, Anthem BlueCross BlueShield, last month said it would now cover the tests for most women. The complexity of the issues is illustrated by a talk given earlier this year by Karen Gaffney at TEDxPortland. The 37-year-old Ms. Gaffney has Down syndrome.
Siobhan Dolan, a geneticist and OB-GYN at Montefiore Medical Center in the Bronx, N.Y., and medical adviser to the March of Dimes, said women often undertake prenatal screening “looking for reassurance the pregnancy is OK, and never honestly entertain the possibility of getting the opposite result.” Dr. Dolan said she talks to patients about the complicated decisions they need to make. “There is no one right answer,” she said she tells them.
The current debate takes place amid broader societal changes in attitudes toward those with intellectual disabilities. Decades ago, it was considered permissible not to treat children with Down syndrome for health issues that sometimes accompany the condition, such as heart defects. Today, medical ethicists say not treating children with Down syndrome and other intellectual disabilities would be considered unacceptable.
Using slides of achievements by people with Down syndrome and a warm delivery style, Ms. Gaffney spoke about the new tests and said she wanted to “make a case for Down syndrome.” In an interview, Ms. Gaffney said she believes the tests are “making a judgment on the value of my life.”
Ms. Gaffney was the first person with Down syndrome to successfully complete a relay swim across the English Channel, among other swimming achievements. She said she gets her best ideas after swimming laps, and keeps a notebook poolside to jot them down.Her mother helps her edit and fine-tune her speeches, and Ms. Gaffney memorizes the presentations.
Her parents, James and Barbara Gaffney, say Ms. Gaffney, who lives with them, is able to cook, clean and take care of daily needs, but needs support to live independently. She has traveled the world giving motivational speeches but struggles to find steady full-time employment.
Mr. Gaffney said he understands that technology advances, and he doesn’t favor using laws to address his concerns, such as test results leading to pregnancy terminations. “The better way,” Mr. Gaffney said, “is to have people like Karen tell their stories and open people’s eyes.”
Write to Amy Dockser Marcus at firstname.lastname@example.org
Make an excited announcement that you’re pregnant, and you know what people will say next. “Congratulations!” or “When’s the baby due?” are the usual responses. After that, though, and in hushed tones, you might hear something else: “Are you going to have The Testing”?
They are referring to prenatal, genetic, testing, which detects whether a fetus has chromosomal abnormalities ranging from Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) or Trisomy 13 (Patau syndrome), to a number of other conditions including Cystic Fibrosis and Tay Sachs Disease. The prognosis and treatment for each of these diagnoses is very different, but at the center of it is a very complicated question.
When we ask about The Testing, we’re actually asking: “Are you a person who would have an abortion?” ... and too many people expect that the answer will be “No.” And it’s just not fair.
There are various ways for pregnant women to learn if the fetus they are carrying is affected by one of many chromosomal abnormalities. One kind of test, amniocentesis, can be performed early in the second trimester, usually around the 15th week of pregnancy, while another, chorionic villus sampling (CVS), can be performed as early as 10 weeks of gestation, providing valuable information within the first trimester.
These diagnostic tests are typically not conducted without the results of an early screening, which is done between 11 and 13 weeks of pregnancy, consisting of an ultrasound and a blood test – the results, combined with other factors such as age, are an indicator of risk. The screenings themselves are non invasive, and give expectant parents information that can help them decide if they will pursue diagnostic testing.
The tests come with higher stakes. Depending on whether you have insurance, and what that insurance covers, testing can be financially prohibitive. And, yes, while ultrasound is used to carefully guide the needle into the uterus, there is a risk of miscarriage. In facilities where amniocentesis is performed regularly, the rates are closer to one in 400. Chorionic villus sampling carries an increased (one in 100) risk of miscarriage, and a small risk of infection. There is an even newer, noninvasive test that promises to detect the same abnormalities in a blood sample, if you can afford that. The tests all come with a chance that you might receive difficult information, such as learning that your child could have a devastating diagnosis.
I didn’t have prenatal testing in my first pregnancy; I was 32 and felt great. I meditated and planned for natural childbirth, and didn’t do anything that could harm my baby in any way. During my second pregnancy, however, I had a feeling that something was wrong, and a genetic counselor told my husband and I that based on my age and the abnormalities observed by an ultrasound, there was a one in three chance that our baby would have a chromosomal abnormality. She recommended we do the test that day.
After consideration of the risks, and knowing that the doctor performed several CVS tests per day, I agreed to have the testing. My husband held my hand, but the procedure was quick, and it took two days to get the results. During the anxious wait, I prayed for my baby to have Down syndrome, but the results of the testing were much worse.
The baby had Trisomy 18, a condition which, like Down syndrome, is caused by an error in cell division. According to the Trisomy 18 Foundation, this occurs in about one out of every 6000 live births in the United States. Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are potentially life-threatening. 50% of babies who are carried to term will be stillborn. Few of the babies that make it will have a first birthday.
I chose to have an abortion.
When you’re pregnant – at least from what I’ve experienced in America – you’re under a microscope. Don’t touch that glass of wine. Don’t sleep on your stomach. Sleep on the left slide. Don’t even look at that slice of turkey from the deli. Don’t place your baby at risk. The judgment only intensifies when you have a prenatal test. Even just the screening.
As a mother and as a trained birth doula, I recognize and understand concerns about the risks associated with diagnostic procedures. Still, I fear that genetic testing is becoming a polarizing issue like abortion, because of abortion – when it’s really just another moment to make sure women have access to compassionate care and comprehensive information. We could, in such moments, support each other as human beings, rather than trying to pick sides and heighten our differences.
There are many groups, with varying agendas, including people within the healthcare industry and insurance companies, who want to decrease the number of women accessing prenatal testing, and I fear a proliferation of anti-choice messaging having an impact on what must remain a personal healthcare choice. Pro-life discussions around genetic testing are centered primarily around Down syndrome, which makes sense. Babies born with Down syndrome typically live long, fulfilled lives, working and living independently. We should spread this awareness, far and wide. But being quiet about the other conditions that can be found via diagnostic testing is being dishonest with women.
Being pregnant is difficult and mysterious enough as it is; there’s no good reason that we shouldn’t give women access to more information about what’s going on inside their bodies, and there’s absolutely no reason to judge them for pursuing this information.