Between 70 and 85 percent of women in the U.S. confronted with a prenatal diagnosis of Down syndrome choose abortion -- but that number used to be higher.
In 2005, when I was pregnant with my first child, I was offered a "quad screen." A simple blood test that would identify provide a series of statistical probabilities that my baby had Down syndrome, other (less common) genetic diseases, or a neural tube defect.
I didn't think much of the test. It seemed like an easy way to learn about the life growing within me, and I assumed the results would allow me to cross a few worries off the list. I certainly didn't think about the intersection of historical, ethical, and economic concerns that had led to that moment.
But then the results came, and my doctor called to say that I had a 1 in 316 chance of having a child with Down syndrome -- higher than the average 28-year-old "age-related risk" of 1 in 1000. Since my husband and I did not want the option of abortion, my doctor counseled us against an amniocentesis, which would have offered a definitive diagnosis, but would have also carried a slight risk that I would miscarry (1 in 200 to 400, depending upon the study). Instead, she suggested a Level Two Ultrasound.
The ultrasound technician measured our child's tibia and fibula and nuchal fold, and did a prolonged search for other markers of trisomy 21, and then she pronounced: "This child may be many things. But it does not have Down syndrome." I promptly returned to a state of giddy excitement for the life ahead.
In retrospect I wonder why I spent so much time convincing myself that the test results would be negative. I spent no time thinking about why the prospect of a child with Down syndrome caused such tightness in my chest, such a need to convince myself that it couldn't be true of my child or within my family. Why was I so frightened of Down syndrome? Was it the way the tests were presented, the aura of somber intensity that came along with the uncertain results? Was it fear on behalf of my baby? Or fear for myself? Did it disrupt a hazy vision of the life I had always expected our family to lead? Was it the fact that a diagnosis of Down syndrome automatically led to a conversation about abortion, that Down syndrome automatically led to a choice that wouldn't have otherwise been on the table? I didn't ask myself any of those questions back then. I just wanted a healthy baby.
Our daughter Penny was born a few months later, and two hours after birth a pediatrician and neonatologist offered the unexpected news that she had Down syndrome after all. At the same time, she was healthy. But back then, "healthy" and "Down syndrome" didn't seem to belong in the same sentence.
In the eight years since I was pregnant with Penny, the prenatal testing landscape has changed significantly, but the questions women must address in choosing their course through prenatal tests haven't. Medical professionals have wanted to offer women the option of abortion for fetuses with "deformities" or "disabilities" for nearly a century, and women have wanted those options in light of the medical and social difficulties that can arise with a child with a disability.
As early as the 1930s, doctors who were arguing for legalized abortion used the prospect of aborting fetuses with "deformities" as a rationale for abortion in the case of medical necessity. As Daniel Williams, an associate professor of history at the University of West Georgia explained to me, "The belief that women should have the right to terminate pregnancies in which they suspected fetal deformities predated ultrasounds and prenatal testing. Those medical technologies certainly facilitated abortions, but the relationship between suspected fetal deformity and abortion preceded those tests by several decades ... concerns about fetal deformity were driving the debate over abortion legalization even in the early 1960s, several years before ultrasounds were introduced."
Although prenatal testing did not exist in the form it does today, the desire to identify physical and intellectual fetal abnormalities contributed to the eventual legalization of abortion state by state and on a federal level.
In more recent years, with the advent of ultrasound technology, amniocentesis, and prenatal screening tests, more and more women have been able to identify fetuses with atypical characteristics in utero. Ultrasound technology emerged in the 1960s, though it was not used in a routine manner until the 1980s. Blood tests that offered a probability of a fetus having Down syndrome or other conditions emerged in the late 1980s, and again, the link between these tests and abortion continued. In the past, definitive diagnosis of chromosomal conditions could only come via chorionic villa sampling (CVS) or amniocentesis, both procedures that pose some risk to the life of the fetus. As a result, doctors and women always considered the risk of miscarriage or harm to the fetus, and many women who didn't want the option of abortion declined the tests.
Now women can choose a noninvasive blood test, which researchers claim can diagnose Down syndrome and other trisomies during the first trimester of pregnancy with 99 percent accuracy. (Doctors still recommend a follow up diagnostic test, which is 99.99 percent accurate.)
As Erika Check Hayden wrote for Nature, "Observers expect the advantages of the non-invasive tests to expand the pool of women who opt for prenatal genetic screening in the United States each year from fewer than 100,000 to as many as 3 million." These new tests bring up the same ethical questions that have existed around abortion and genetic conditions for years, and yet they do so in an unprecedented way because the test is both safe and available early in pregnancy.
Currently somewhere between 70 and 85 percent of women in the United States with a prenatal diagnosis of Down syndrome choose abortion. But even though prenatal testing has advanced in accuracy and availability, the number of women who aborted used to be higher. Perhaps more women are using prenatal testing for the purpose of preparation -- medically and emotionally -- rather than as a route towards termination.
The same liberal social forces that led to the legalization of abortion forty years ago have also led to social progress for many individuals with disabilities, including those with Down syndrome. Due to legislation such as the Americans with Disabilities Act (ADA) and Individuals with Disabilities Education Act (IDEA, and its predecessor, The Education for All Handicapped Children Act), children and adults with disabilities have rights they never before could have imagined. Medical advances have also led to significant gains for individuals with Down syndrome. In the past thirty years, their life expectancy has doubled. With Early Intervention and inclusion in schools and other social settings, individuals with Down syndrome have also made cognitive gains that have led to greater independence as adults.
Certainly people with Down syndrome and other genetic conditions still suffer social stigma and physical difficulties. But life for a person with Down syndrome has never been more promising than it is today. Knowing the personal reality now that I didn't seven years ago -- of a daughter who loves reading, who squabbles with her little brother and tries to take care of her little sister, and has braces on her ankles and glasses on her nose and loves to dance -- I've come to see that my fears were largely unfounded.
Recent demand has led to market gains for biotechnology companies like Sequenom, which developed the blood test to detect Down's syndrome, and most insurers cover prenatal screening and subsequent diagnostic tests. So it is in the midst of these historical, economic, and medical forces that parents must consider the proper place for these tests in offering the information they need to care for their children.