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When Tests Indicate a Problem

It's possible that your multiple marker screening test (quad marker screen) may suggest an abnormality when your baby is actually healthy. (This is known as a "false positive.") If you get a positive result, you may want to talk with your provider or a genetic counselor before deciding on the next step. Depending on your age, your comfort level, and a host of other factors, you may choose to have an ultrasound, an amniocentesis, or both.

False positives. There are a number of reasons why a false positive occurs on a multiple marker test. You might be earlier or later in your pregnancy than you thought, you might be carrying twins, or you might have altered hormone levels but the baby is normal. Your practitioner may offer an amniocentesis to confirm results.

Handling problems. If the amniocentesis confirms chromosomal abnormality, you may want a second opinion before you make any decisions about whether to continue the pregnancy or terminate it.

It's a horrible shock to learn that your baby has a medical problem. You will need time to absorb the news and gather information about your baby's condition. You can't predict now what your reaction to an abnormal test result might be. With so many medical advances, there are treatments for many conditions. Ideally you will meet with a genetic counselor both before and after diagnostic testing to help you sort out emotional and practical issues. This counselor will neither encourage you to have the baby nor urge you to end the pregnancy; if you have a positive test result, she will merely help inform you so that you and your partner can make that decision. You may have to consider some tough questions. For instance, are you prepared to raise a child with a severe disability? Are you willing to face a stillborn birth? How treatable is your baby's disease, both now and in the future? If the prognosis for your baby's survival is poor, would you rather cherish the rest of the time you have to carry this child or terminate the pregnancy now?

To test or not to test? Some parents elect not to have any screening tests because they know they would never terminate a pregnancy. However, many parents opposed to abortion have screening tests anyway because the test results may help them prepare for a baby with special needs, arrange for medical intervention in utero or after delivery, or arrange for a special needs adoption.

Originally published in You & Your Baby: Pregnancy.

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