Negotiating the Emotional and Psychological Terrain of Prenatal Diagnostic Testing
The pregnancy test is just the first in a long line of tests that inhabit the world of pregnancy.
By the time they know they’re pregnant, most women will already have had an introduction to prenatal testing. It went something like this: They walked into a drugstore, handed over $20 for a state-of-the-art home pregnancy test, went home, peed on a wand, waited a few minutes, and then, with bated breath, checked to see if they’d “passed.” Simple, perhaps, but that is just the first in a long line of tests that inhabit the world of pregnancy.
Some of these tests are routine. Urine will be tested at every prenatal appointment, and a glucose tolerance test will be given to all women around the fifth month of pregnancy to detect signs of gestational diabetes. Others are recommended to check on the health of the baby, often as standard screening devices. In this category, the most commonly performed are the ultrasound and the alphafetoprotein (AFP) or triple screen test*, both considered to be safe for mother and baby. In some instances, however, a pregnant woman’s age, family history, or a complication she’s experienced will lead to recommendations for more conclusive testing. When this happens, more invasive procedures will be considered including amniocentesis* and chorionic villus sampling (CVS)*, both of which pose some risk to the fetus.
There’s no doubt that these tests can determine a great deal about the health of the fetus and the progress of a pregnancy. However, different health care practitioners offer different recommendations regarding what is necessary. Similarly, some women feel certain that they want the kind of information that this kind of testing provides, while others either aren’t sure, or feel strongly that they don’t. This, combined with the degree of invasiveness and the potential risk involved, can make the decision to undergo one of these procedures a stressful one.
Much pregnancy-related literature devotes space to the hows and whys of diagnostic testing, but it is incredibly difficult to find information on the emotional and psychological components of the testing experience. From the often arduous decision-making process and the realities of the procedure itself, to the anxieties experienced as one awaits results and ponders the difficult decisions that accompany any bad news, there is no doubt that women spend a great deal of energy grappling with the thorny issues that surround diagnostic testing.
“I felt like I should get an amniocentesis to be thorough, but the thought of it made me feel queasy. I think I was afraid of opening the door to anxiety,” says Nell, a thirty-three year old first time mother-to-be. Her decision was complicated by the fact that although her obstetrician didn’t exactly advise her to have an amnio, she noted that she, herself, had one for each of her three pregnancies even though she’d been thirty years old at the birth of her first child.
As women age, their chances of conceiving a fetus with chromosomal abnormalities increase, making maternal age one of the main reasons that genetic testing is recommended. By today’s standards, women who are thirty-five years or older are categorized as prime candidates for this kind of procedure. However, women who are not quite thirty-five, and those who have just passed that benchmark, often find themselves in a gray area.
Thirty-six-year old Jenny felt strongly that she did not want an amnio when pregnant with her second child, but she knew the test might be recommended because of her age. “Since I had a healthy daughter just two years before, I didn’t feel it was necessary to go through with a procedure that has certain risks associated with it. How much could my body really have changed in two short years,” she says. However, she explains, ‘I was a little nervous about telling my obstetrician my decision. I thought she’d try to change my mind.” Instead her doctor pointed out that good results from an AFP (alphafetoprotein) test can be quite reassuring and that she’d be satisfied with that, as long as Jenny was. She also added that while pregnant with her own child and well over the age of thirty-five, she too made the decision to skip amniocentesis.
When Cynthia conceived her first child she, too, was thirty-six years old. Unlike Jenny, she knew from the start, that she wanted to have a diagnostic test that could tell her as much as possible about the baby she was carrying. Her midwives were supportive of her decision and they referred her to an obstetrician they worked with who was highly recommended for his amniocentesis expertise. Cynthia was surprised however, to find herself feeling rather confused about exactly what she would do with the information once she had it. “Before the procedure, my husband and I felt fairly certain that we would terminate the pregnancy if there was something ‘terribly wrong’ with the baby. While we waited for the results, however, we realized that our definition of ‘terribly wrong’ was unclear, and we became increasingly nervous and less sure of ourselves as the days passed.”
The decision one would make if presented with bad news about the health of a fetus is often a major factor in women’s consideration of testing. Katherine was thirty-two years old and pregnant with her second child when her AFP test results indicated that her chances of carrying a baby with Down syndrome were high for someone in her age group. She was fully aware that the AFP test is just a screening measure used to assess risk and not a conclusive diagnosis. She also knew that it had a high rate of false positive results. Nonetheless, she was beside herself with fear and worry as she and her husband contemplated their next step. Amniocentesis was recommended. “My husband and I agreed that we wouldn’t want to abort the pregnancy even if I was carrying a Down’s baby,” says Katherine. “I also felt irrationally unlucky and didn”t want to take even the small risk involved in amnio.” Katherine opted for two level two ultrasounds as well as a fetal echocardiogram instead and although these tests provided some reassurance she still found doubts creeping into her thoughts as she anticipated her baby’s birth. In fact, when her daughter was born the first words out of Katherine’s mouth were, “Does she have Down syndrome?”
Whether a woman approaches testing with ambivalence or with a clear sense of either wanting or not wanting one of these procedures, it is likely that she will experience tension and confusion as she considers her options. In fact, it is quite common for feelings of anxiety, fear, guilt, and even anger to enter into the picture as women wrestle with the question of diagnostic testing and all that it represents.
Thirty-five-year-old Emily was sure she wanted to have amniocentesis and she welcomed the reassurance that it brought her during an extremely difficult pregnancy. But she was surprised at her response to the procedure itself. “I wasn’t prepared for how violent and intrusive it felt to have a needle stuck in my pregnant belly.”
When Lynn became pregnant at the age of forty-two she wasn’t willing to wait until midway through her second trimester to find out if the fetus she was carrying was healthy. She opted for chorionic villus sampling (CVS) which can be performed between the ninth and twelfth week of pregnancy. As sure as she was about having the procedure, it was a still a very difficult decision. “How can you untie that impossible knot (finding out if your fetus is OK might do unspeakable things to it)? Can this be real? You cry, you ache for sleep, you try to learn more from friends and friends of friends,” says Lynn about the days and weeks leading up to her CVS.
Finding the right kind of support as one grapples with these issues isn’t easy. Although women who have decided to have genetic testing (or those seriously considering the option) will meet with a genetic counselor, this person’s job is to advise options and provide information, not to recommend a specific course of action or counsel a family in response to their psychological needs. Similarly, health care practitioners will make recommendations and furnish facts about the various tests, what they entail, and what they can determine, but supporting women through the complex emotional terrain that accompanies testing is often beyond their scope of expertise.
“I looked for support wherever I could get it,” says Cynthia. “I read everything I could get my hands on. I talked with my midwives, my family, and my friends. The most valuable resource for me was other women who had struggled with the same questions and encountered the same fears, desires, and anxieties.”
As the efficiency and effectiveness of prenatal diagnostic tests continues to improve, it’s likely that options may exist in the next several years that might make the complicated decisions involved a bit easier. One such possibility may even arise out of a current study whose purpose is to provide a noninvasive first trimester screening that can accurately assess one’s risk of carrying a baby with Down syndrome or other chromosomal abnormalities. Sponsored by the National Institute of Child Health and Development this study, called Biochemical and Ultrasound Nuchal Membrane Assessment (BUN)* combines three factors to determine the likelihood of genetic disorders: maternal age, a blood test, and a nuchal translucency ultrasound.
Pregnant with her first child, thirty-six-year-old Karen felt great and was dismayed that diagnostic testing was being recommended to her. “To dance through the amount of information that was available to us about the status of our growing fetus was something of an obstacle course. How could we best balance the facts of statistics and wanting to do what we could for our fetus, while still maintaining a sense of organic health and a firm faith in ourselves and our ability to handle any outcome?” says Karen when describing her confusion. “I did want some kind of reassurance, but I also wanted to keep my faith, and I didn’t want notions of risk and fear of the unknown to dominate my thoughts.” The invasiveness of amniocentesis and CVS as well as the risks involved in the procedure made these options completely unappealing to her. Additionally, she was wary of AFP testing because of the level of inaccuracy she’d heard about from many of her friends of a similar age. When the genetic counselor she met with told her about BUN, she jumped at the chance to be part of the study and was very satisfied with the procedure itself as well as the reliability of the results.
Whatever one might feel about diagnostic testing, there is no doubt that over time, the number and variety of these tests will only continue to grow. As the world we live in becomes more scientifically and technologically advanced, so does pregnancy. Whether one feels violated by even the suggestion of procedures that seem invasive and unnecessary, or whether one embraces every new test eagerly in order to know as much as possible about the heretofore unknown, there are, and will continue to be, a host of decisions to be made, and emotional hurdles to jump, in this fairly new, but obviously permanent, realm of pregnancy.
Cecelia A. Cancellaro is the author of Pregnancy Stories: Real Women Share the Joys, Fears, Thrills, and Anxieties of Pregnancy from Conception to Birth (2001). This book is full of the stories that pregnant women tell to their best friends, their sisters, and to one another at their prenatal exercise classes; the stories that they frequently do not tell to their midwives or doctors. For pregnant women, the stories in this book will be an enormous source of support and relief: “I am not the only one out here with these fears or problems.” For midwives, nurses, childbirth educators and others who care for pregnant women, this book can be an inspiration on how to change one’s practice, counseling, and teaching to address the conflicts and concerns that women are facing as they grapple with all the information thrown at them and try to make decisions about their pregnancies. To order your copy from Powells.com, click on the title. Visit Cecelia Cancellaro’s website at www.pregnancystories.net.
*Amniocentesis, which is most commonly performed between the sixteenth and eighteenth week of a pregnancy, involves having a long hollow needle inserted through the abdomen wall into the uterus to withdraw some of the amniotic fluid that surrounds the fetus. An ultrasound is performed simultaneously to guide the doctor as the needle is inserted. The fetal cells contained in the withdrawn fluid are then cultured and examined for signs of genetic disorders, including Down syndrome, Tay-Sachs disease, and sickle cell anemia. The test can also detect neural tube defects such as spina bifida. The procedure itself is relatively quick but it is not without risk (there is a small chance of miscarriage or infection).
*Chorionic Villus Sampling (CVS) is usually performed between the ninth and twelfth week of pregnancy. Like amniocentesis, CVS can detect genetic abnormalities including Down syndrome, Tay-Sachs disease, and sickle cell anemia. It does not, however, diagnose spina bifida. The procedure involves having a long thin tube inserted into the cervix through the vagina in order to take a small tissue sample from the baby’s placenta. In some cases due to the particular placement of the placenta, the procedure will be performed through the abdomen with a thin needle. An ultrasound is done simultaneously to guide your doctor. The tissue sample is then tested for chromosomal abnormalities. As with amniocentesis, there are risks involved, including a small chance of miscarriage and infection.
*The alphafetoprotein (AFP) test, sometimes called the MSAFP or maternal serum AFP, is performed between the sixteenth and eighteenth week of pregnancy. Requiring only a blood sample, AFP screening measures the amount of alphafetoprotein (a substance produced by the liver of the fetus) in the mother’s blood. It screens for neural tube defects such as spina bifida (a deformity of the spinal column) and anencephaly (the absence part or all of the brain). A low level of AFP could also point to an increased risk of Down Syndrome. In many instances women will receive Triple Screen Testing instead of the standard AFP. The triple screen, which measures not only alphafetoprotein but HCG (human chorionic gonadotropin, a pregnancy hormone) and estriol (an estrogen produced in large quantities during pregnancy), can diagnose additional genetic problems and is said to be more accurate than the AFP screening alone. The procedure itself (a simple blood test) does not pose any threat to you or your baby but this test is controversial due to its rate of false positive results when screening for Down Syndrome. Although the test can indicate a risk of Downs, it is not a conclusive diagnosis and a large number of women who receive frightening results go on to have amniocentesis only to find out that their baby is fine.
*First Trimester Maternal Serum Biochemistry and Ultrasound Nuchal Membrane Assessment or BUN, is a screening measure that promises to be more accurate than the current AFP/Triple Screen test and less invasive than amniocentesis and chorionic villus sampling (CVS). BUN, which is performed between the tenth and fourteenth week of pregnancy, combines three factors to determine the likelihood of genetic disorders: maternal age, a blood test (which measures the amounts of two proteins found in the blood of pregnant women), and a nuchal translucency ultrasound (which examines the space behind the fetus’ neck for excess fluid which can signal problems). Those conducting this study (The National Institute of Child Health and Human Development) cite a detection rate as high as 90%.