Ann Sargent's first pregnancy was progressing just fine. At 16 weeks, the Peoria, Illinois, mom-to-be decided to pass on an amniocentesis because there were no problems on her ultrasound. Her doctor concurred, even though, at 39 years old, Sargent was considered "high-risk." But at 22 weeks, her doctors were suddenly concerned about the development of the baby's arteries and Sargent was referred to a pediatric cardiologist. While an amnio may not have picked up any heart abnormality, Sargent still felt that she hadn't done all she could to detect a problem as early as possible. "We had to wait eight long, stressful days for the appointment, not knowing exactly what was wrong," she recalls. After an echocardiogram of the baby's heart that lasted over an hour -- during which the technician didn't say a word -- they learned that the baby was fine. "To say it was stressful," says Sargent, "would be a huge understatement."
"Why is it so hard?" The mind-boggling array of medical procedures that can tell pregnant women if their baby will be born healthy should be a big plus, but it can also complicate what is supposed to be an exciting time in life. "Part of the problem is the medical culture of our nation: If a test is available, there's both social pressure and pressure from the medical community to have it, which really challenges a woman to make a decision based on her own values," notes Kelly Ormond, president of the National Society of Genetic Counselors (NSGC) and director of the graduate program in genetic counseling at Northwestern University in Chicago. What it ultimately comes down to is this: Some moms-to-be can't live without undergoing prenatal tests -- and others can't live with doing it. On which side of the fence will you stake your -- and your baby's -- future?
"The tests gave me peace of mind"
"I had amniocentesis (see cheat sheet at the end of this article) with all three of my children. I was 37, 39, and 41 when they were born, and I could not have gone through the entire pregnancy at my age wondering if my children were healthy. The risk of miscarriage with the test was much less than the risk to my mental health would have been without knowing," declares Denise Koster of Hugo, Colorado. "For me, these amnios were the peace of mind that allowed me to be prepared for my child. I would absolutely do it again."
Mia Musciano-Howard of Fayetteville, Georgia, also found the anxiety to be worth it. "My prenatal testing seemed to be never-ending. At week 16, I had two amnios since I was carrying twins in two separate sacs," she explains. "Nothing compares to the agonizing two weeks of waiting for those results." Musciano-Howard spent the time concentrating on the positive side and not the "what-if's." "We continued to talk about the nursery décor and registered for baby gifts," she notes. "Looking back, it was the right decision for us," says Musciano-Howard, now the mother of healthy twins.
"What will be, will be"
Choosing not to undergo prenatal testing can be equally agonizing. "We felt that it would be more stressful for us to worry about something that may or may not happen at the end of nine months, so we didn't want to have the tests," explains Amy Gerborg of Alpharetta, Georgia. "I had a high-risk pregnancy that required me to have an ultrasound every month for the first trimester, then every other week, and then every week, so I already had enough to worry about without adding the stress of those tests."
Amanda Stiebel of St. Louis, Missouri, also had plenty to worry about. "At our 20-week ultrasound, they told us that our son had an enlarged brain ventricle, and that it might mean retardation of some sort. They wanted us to have an amniocentesis to rule out Down syndrome," recalls Stiebel, then a first-time mom-to-be. "After we finished crying, my husband and I decided that even if he were mentally disabled, we would love him and give him as good a life as possible, so the risks of an amnio weren't necessary. We did opt to have monthly ultrasounds and an MRI, however. By the eighth month, they announced that he had grown out of (or into) his ventricle and would be fine. Now, he's a perfect 1-year-old and we're glad we didn't risk losing him over a minor abnormality that turned out to be nothing."
For some women, screening tests are a concern because they may have a "false positive" or other uncertain result, says Jacky Halliday, a genetic counselor with the Prenatal Diagnosis Center at Women and Infants' Hospital in Providence, Rhode Island. Dee Rockman of Flint, Michigan, experienced a false positive herself. During her first pregnancy, all the test results came back fine. But with her second child, the maternal serum screen indicated her baby might have a serious chromosome disorder, Trisomy 18, which is often fatal. "I didn't think a thing of having the test, so it was a real shock when the nurse said, 'I'm sorry, we're going to have to get you in to see a neonatologist,'" Rockman remembers. The doctor performed an ultrasound that showed that the fetus did not have the physical symptoms of the disorder, "but he said if I wanted to be 100 percent sure I needed to have an amniocentesis." Rockman went ahead with the amnio and, fortunately, her daughter was fine. Though the end result was a relief, the experience was traumatic for Rockman.
Most people are used to "yes" and "no" answers, explains Halliday, but screening tests like the one Rockman had only indicate the possibility of a condition, leaving some moms-to-be with the difficult decision of whether or not to confirm that possibility with further (and maybe riskier) tests.
"How do I decide what to do?"
Aside from the necessary and routine health checks -- blood and urine tests, blood pressure and weight gain monitoring -- most prenatal testing is up to you, and no care provider should try to convince you otherwise, says Ormond. Couples need to consider their individual health histories, risk factors, personal and religious beliefs, and then try to come to their own consensus. "Couples sometimes have differing opinions on testing, so it's important for them to talk it through," she notes. An objective genetic counselor can help. (To find one near you, ask your health care provider or go to nsgc.org
Other factors that might prompt you to talk to a genetic counselor include your ethnic background (certain illnesses are more likely to occur in some ethnic groups), your age (the older you are, the greater your risk for a chromosomal disorder), your health, and any history of having miscarriages.
If your baby happens to have a birth defect or health issue, Halliday notes, knowing that early on can help you prepare. Your baby's chances may be improved by giving birth in a hospital with a good neonatal intensive care unit, for instance, and you can find a support group to help you get through the pregnancy and prepare for your life ahead. Couples who have had one child with a health problem often choose to undergo prenatal testing with the next, says Halliday, citing the surprise in the delivery room as the most traumatic part.
Another option is to talk with your care provider about less invasive ways of monitoring your baby. Karen West of River Forest, Illinois, had a first-trimester screen and loved it. "I was very confident about the findings -- the nuchal translucency screen and blood test together are 90 percent accurate -- and the chance of Down syndrome went from 1 in 1,750 to 1 in 3,800 after I had it. We all tend to worry about our unborn babies. Knowing early that everything was okay was wonderful and helped me relax much more." And isn't that exactly the reason prenatal testing was developed?
The big-deal tests
Here's the 411 on the five main (and optional) screening and diagnostic tools. For more details, check out the Pregnancy Planner on Babytalk.com
Test: Ultrasound At any point in your pregnancy your care provider can perform this very safe test, which uses sound waves to make a picture of your baby on a screen. This test can reveal the age and sex of your fetus, whether you're having multiples, how much amniotic fluid you have, and if the baby is growing as he should.
Test: First-trimester screen Between 10 and 14 weeks, a special type of ultrasound called nuchal translucency screening is used to measure the thickness on the back of the neck of the fetus. A serum (blood) test is also done, and the combination of results can indicate whether the baby is at risk for a heart defect, Down syndrome, or Trisomy 18 (a chromosomal disorder also called Edward syndrome).
Test: Chorionic villus sampling (CVS) At 10 to 12 weeks, the doctor can insert a thin tube into the uterus, through either the birth canal or a needle in the belly, and take a sample of the tissues of the placenta. This sample can be used to detect Down syndrome, cystic fibrosis, sickle cell anemia, and other disorders. There is a 1 percent chance of miscarriage with this test.
Test: Maternal serum screen Given between 15 and 20 weeks, this blood test (also known as the triple/quad screen), is used to analyze the levels of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), inhibin, and unconjugated estriol. These substances, along with the mother's age, can be used to estimate the probability of Down syndrome, Trisomy 18, and neural tube defects such as spina bifida and anencephaly (absence of a major part of the brain and the top part of the skull).
Test: Amniocentesis At 15 to 20 weeks, a doctor guides a needle through the mother's abdomen and uterus to withdraw amniotic fluid. The test can diagnose numerous abnormalities and illnesses, as well as confirm the gender of your baby. It's typically offered to women over age 35 who have a higher risk of Down syndrome, women who have a family history or another child with certain birth defects, or women whose prior tests indicated a cause for concern. The chance of miscarriage is 1 in 400 to 1 in 200.
Stephanie Wood is a Babytalk contributing editor.