This book comes out of the past six years of learning about Down syndrome and other disabilities, loving our children in the midst of the struggles of trying to be good parents, and facing our own decisions about prenatal testing with two subsequent pregnancies. It also comes out of conversations with countless women and men who have approached me, more often than not with tears in their eyes, asking for advice about how to make choices about testing through the course of a pregnancy. In light of recent rapid developments in prenatal testing options, I am writing in response to those questions, and also out of concern that parents are not being given the ethical, emotional, and medical guidance needed to make informed decisions about prenatal diagnoses. I hope this book offers up-to-date information about prenatal testing and serves as a nonjudgmental guide through the options offered and the questions women might want to ask themselves and their doctors while pregnant.
Although this book speaks to prenatal testing in general, for three reasons it focuses upon the ethical and practical questions surrounding prenatal testing for Down syndrome. First, Down syndrome is the most commonly occurring chromosomal condition, and as a result, many tests are designed specifically to identify fetuses with Down syndrome. For instance, one test that recently came on the market is called MaterniT21, where T21 refers to trisomy 21, the technical term for Down syndrome. Second, although the chance of having a baby with Down syndrome increases with maternal age, it is generally (with the exception of a rare form of Down syndrome caused by translocation) not an inherited trait. Women across cultures, races, and socio-economic groups are equally likely to conceive babies with Down syndrome. Finally, I write most about Down syndrome because I know the most about it both from an academic and personal perspective and because many of the things I have learned apply to families with children with other disabilities as well.
Most women who receive a prenatal diagnosis of Down syndrome or another genetic condition automatically face a decision about whether or not to terminate their pregnancy, and they must make that decision quickly. Until recently, prenatal diagnoses didn't typically come until well into the second trimester, and some women found themselves grappling with state laws about the timing and legality of an abortion. Now some cities have access to prenatal tests (such as MaterniT21, mentioned above) that can identify Down syndrome as early as eight to ten weeks into a pregnancy. These very early screening tests bring yet another implication of urgency in making a decision about abortion if a woman wants to terminate within the first trimester. Prenatal diagnosis presents an automatic choice that, for many, comes along with a great deal of emotional stress and pressure.
I was talking with a developmental pediatrician recently, and she commented that we need to offer "pre prenatal counseling." Virtually all pregnant women will face decisions about prenatal testing. Women need to consider their approach to these tests and their results before they are even offered. These conversations bring up weighty topics, but they also offer a chance for couples to alleviate the stress of making urgent decisions about testing and/or terminating a pregnancy. Moreover, these conversations provide women with confidence so they can advocate for themselves and their babies.
Technological advances are making prenatal genetic testing easier, earlier, and less invasive. For all women who have an increased chance of having a child with Down syndrome, ACOG now recommends offering one of the new blood tests that detects fetal DNA with Down syndrome as early as eight to ten weeks gestation. Once these tests have been tested for accuracy among low risk women, ACOG and several other organizations will likely recommend offering the same screening for Down syndrome to all pregnant women. As a result, every woman or couple, no matter their risk level, will face decisions about prenatal testing throughout the course of a pregnancy. This book is not intended to guide women who are grappling with what to do after a prenatal diagnosis. Rather, this book is intended to inform women or couples about their choices related to prenatal testing as they enter into pregnancy.
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