"It's noninvasive," my doctor said. "It just offers you some information about your baby."
I was 28-years-old, pregnant for the first time, and we were discussing prenatal testing. A simple noninvasive blood test sounded good to me, so I stuck out my arm. I didn't think about the test again.
A week or two later, my doctor called. She sounded almost accusatory about trying to track me down. As it turned out, the prenatal test run on my blood sample showed an increased chance that I was carrying a baby with trisomy 21, commonly known as Down syndrome. Only then did I begin to ask some of the questions I wish I had considered when I agreed to the tests in the first place: Exactly what information would these tests provide? Why would I want it? What would I do in response to whatever I learned? I had treated the decision to accept prenatal genetic testing as an inconsequential matter that required minimal discomfort and no risk to my health. But I now realized that my initial decision could lead to a series of life-changing ethical, emotional, and spiritual choices that I wasn't prepared to make.
Nearly eight years have passed since my first experience with prenatal testing. Now, the American College of Obstetricians and Gynecologists recommends that all pregnant women, regardless of age or other risk factors, be offered prenatal genetic testing. In other words, each pregnant woman will likely face a decision about whether to stick out her arm for a blood draw, and women need better preparation for the questions and choices those tests might provoke.
Initial screening tests provide statistical probabilities related to various genetic and neurological conditions such as spina bifida, trisomy 21 and other trisomies (the presence of three copies of a chromosome instead of the typical pair). Additional blood tests have come on the market over the past year that can predict Down syndrome and other trisomies with 99 percent accuracy during the first trimester of pregnancy. These test results might lead a doctor to offer chorionic villa sampling (CVS) or amniocentesis, invasive, expensive, and somewhat risky procedures that usually occur during the second trimester.
As I have written elsewhere, prenatal testing, from amniocentesis to the screening tests, was designed in order to give women the option of what is called "selective" abortion (abortion based upon specific characteristics of the fetus rather than in response to an unwanted pregnancy). Studies have shown that at least 75 percent of women with a prenatal diagnosis of Down syndrome choose to terminate their pregnancies, and that number rises higher with other prenatally diagnosed conditions. But women use prenatal testing for more than selective abortion. Some mothers hope the testing will offer reassurance that certain conditions will not be present in their children. Others respond to news of a challenging medical condition with enhanced prenatal care. Women can also decline prenatal genetic testing and pursue prenatal care via regular doctor's visits and routine ultrasound exams.
Still, the primary question a pregnant woman should consider when offered prenatal screening tests is whether or not she would consider an abortion in the event of neurological or genetic conditions. Women who want the option of abortion should pursue prenatal genetic testing, but they should do so with the knowledge that doctors often are not equipped to answer every question about the conditions the tests might identify.
In making decisions about selective abortion, women need to avail themselves of more than medical information. The potential social and emotional context for their children matters just as much, if not more, than the probability that he or she will need to undergo heart surgery or receive ear tubes. As George Estreich writes in his lovely memoir about raising his daughter Laura, who has Down syndrome: "How should Down syndrome be imagined? To talk about a representative person with the syndrome denies the syndrome's variability. To list every possible defect exaggerates the condition's seriousness. None of these set the condition in context. None describe what an ordinary life might be like; none hold out the possibility of happiness, except as a footnote." And yet, as Estreich and countless others attest, life with Down syndrome often includes much happiness, and many parents care more than anything else about the prospect of happiness for all their children.
Eight years ago, I decided to pursue a Level Two ultrasound to look for any physical markers of Down syndrome, and I declined an amniocentesis. When the ultrasound technician told my husband and me, "This baby may be many things, but it does not have Down syndrome," we thought that was the end of the story. Four months later, our daughter Penny was born, healthy and beautiful, and yet with news that came as a shock to us. She had Down syndrome after all.
At first, I felt angry, as though I had been deceived, as though Down syndrome was the one thing she couldn't have, the one diagnosis that had already been crossed off the list. In retrospect, I can see that the early blood test was a suggestion of the reality already present within every cell of Penny's body. I no longer feel any anger that I didn't know about Penny's chromosome count ahead of time. The ultrasounds had offered us the information we needed to know to prepare to welcome our daughter into the world. Penny's diagnosis felt shocking, but it was also easier to bear when she was in our arms with her rosy cheeks and heart-shaped lips and her full head of black hair.
In subsequent pregnancies, as I learned more, I chose less and less prenatal genetic testing. I trusted the ultrasounds to give me the necessary information about my children's medical needs and I worked to prepare my heart to welcome whatever child arrived next.
The decisions all pregnant women face when offered prenatal genetic testing raise questions that go far beyond neutral medical information. There are no easy or absolute answers to those questions, but every pregnant woman can and should be prepared to make the choices she might face.
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