What to expect when you're expecting (28 page)

Toxoplasmosis, fifth disease, cytomegalovirus, or other fetal infection is suspected.

It is necessary to assess the maturity of the fetal lungs late in pregnancy (among the last organs ready to function on their own).

How is it done?
While you lie on your back, your baby and the placenta are located via ultrasound, so the doctor will be able to steer clear of them during the procedure. It’s
possible that your abdomen will be numbed with an injection of a local anesthetic, but because this injection is as painful as the procedure itself, most practitioners skip it. A long, hollow needle is inserted through your abdominal wall into your uterus and a small amount of fluid is withdrawn from the sac that surrounds your fetus. (Don’t worry—baby will produce more amniotic fluid to replace what’s withdrawn.) The slight risk of accidentally pricking the fetus during this part of the procedure is further reduced by the use of simultaneous ultrasound guidance. The entire procedure—including prep time and ultrasound—will usually take about 30 minutes, start to finish (though the actual withdrawal of amniotic fluid takes no more than a minute or two). If you’re Rh negative, you’ll be given an injection of Rh-immune globulin (RhoGAM) after the amniocentesis to be sure the procedure does not result in Rh problems (see
page 48
).

When is it done?
Diagnostic amniocentesis is usually performed between the 16th and 18th weeks of pregnancy, but occasionally as early as the 13th or 14th or as late as the 23rd or 24th week. Test results are usually back in 10 to 14 days. Some labs offer the FISH—fluorescent in situ hybridization—method, which quickly counts the number of certain chromosomes within cells. It can be used on an amniocentesis sample to get a faster result, often within a day or two (the Flash FISH offers results in just a couple of hours)—but since the result won’t be complete, it’s always followed by the usual chromosomal test in the lab. Amniocentesis can also be performed in the last trimester to assess the maturity of fetal lungs.

How accurate is it?
Amniocentesis is more than 99 percent accurate in diagnosing—or ruling out, which is far more likely—Down syndrome. (A normal FISH test is about 98 percent accurate.)

A False Screen

You undergo screening tests for the reassurance you hope they’ll provide, but unfortunately, what happens so often instead—particularly with the triple or quad screen—is a false positive (it seems things might not be okay when ultimately it turns out they’re just fine). There goes the reassurance you were hoping to find—and here comes the needless anxiety and worry you were so hoping to avoid.

That’s why it’s so important to start off the screening process with an open discussion with your practitioner about the high rate of false positives and what it really means if you get one. What you’ll hear is this reassuring news: More than 90 percent of moms who get that positive screen will end up having perfectly normal and healthy babies. Talk about positive!

How safe is it?
Amniocentesis is extremely safe; the risk that the procedure will result in a miscarriage is believed to be as low as 1 in 1,600. You may experience a few minutes to no more than a few hours of mild cramping after the procedure. Some doctors recommend resting for the remainder of the day; others don’t. Rarely, slight vaginal bleeding or amniotic fluid leakage may be experienced. If you notice either, report it at once. The chances are very good that both the leakage and the spotting will stop after a few days, but bed rest and careful observation are usually recommended until it does.

How to Freak Out a Pregnant Woman

Happily, most ultrasound exams show that all is going (and growing) well with baby. But for some women, a level 2 ultrasound may go something like this: One minute you’re starry-eyed as you gaze at the ultrasound screen, marveling at the miraculous image of your baby floating blissfully inside you. The next minute, the technician is calling for the doctor, who knocks you right off cloud nine and into a state of panic with a few frightening words: “We see something—a soft marker—that might indicate a problem.”

But before you panic, it’s important to gain some reassuring perspective. Though “soft markers” on an ultrasound (detected during 5 to 10 percent of second-trimester ultrasounds, depending on the marker) are subtle characteristics that may indicate an increased risk of a chromosomal problem (most often Down syndrome or trisomy 18), these characteristics are also found in plenty of babies who are perfectly healthy. In fact, very few babies who show these soft markers (such as choroid plexus cyst, echogenic foci, or pyelectasia, to name a few) actually end up having a chromosomal abnormality. Which means that in the majority of cases, these so-called abnormal findings don’t indicate anything abnormal at all.

Your practitioner may suggest some more tests (like an amnio) to find out for sure, but in the meantime, take a deep breath and remember that sometimes technology—which can bring so much joy—can also bring unneeded worry.

What is it?
Even if you had an ultrasound in your first trimester to date your pregnancy or as part of the combined or integrated screening test, you’ll probably also get an ultrasound in your second trimester. This level 2, or “targeted,” ultrasound is a much more detailed scan that focuses closely on fetal anatomy and can be used to check in on the growing fetus for a variety of other reasons as pregnancy progresses. It also can be a lot more fun to look at, because it gives a far clearer picture of your baby-to-be.

These days, as ultrasound images become ever sharper, even nonexperts (like parents) are able to tell a head from a bottom, and much more. During your level 2 ultrasound, and with the help of the technician or doctor, you may be able to spot your baby’s beating heart; the curve of the spine; the face, arms, and legs. You may even catch sight of your baby sucking its thumb. Usually, the genitals can be seen and the sex surmised, although with less than 100 percent reliability and depending on baby’s cooperation (if you’d like to keep the sex a surprise until delivery, make sure you let the doctor or technician know this in advance). In most cases, you’ll be able to bring home a souvenir of your exam, a “photo” or a copy of the 3-D or 4-D digital video to show to friends and family.

When is it done?
It is usually performed between 18 and 22 weeks.

How safe is it?
No known risks and many benefits have been associated with the use of ultrasound. And many practitioners order ultrasound exams, at least once in a woman’s pregnancy, often several times. Still, most experts advise that ultrasound be used in pregnancy only when a valid indication exists.

If a Problem Is Found

In the vast majority of cases, prenatal diagnosis yields the results that parents hope for—that all is well with their baby-to-be. But when the news isn’t good—when something does turn out to be wrong with their baby—the information provided by such a heartbreaking diagnosis can still be valuable to parents. Teamed with expert genetic counseling, it can be used to make vital decisions about this and future pregnancies. Possible options include:

Continuing the pregnancy.
This option is often chosen when the defect uncovered is one the couple feels that both they and the baby they’re expecting can live with, or when the parents are opposed to abortion under any circumstance. Having some idea of what is to come allows parents to make preparations (both emotional and practical) for receiving a child with special needs into the family, or for coping with the inevitable loss of a child. Parents can also begin working through the reactions (denial, resentment, guilt. that can come with discovering their baby has a problem, rather than waiting until after delivery. They can learn about the particular problem in advance and prepare to ensure the best possible life for their child. Joining a support group—even one online—can help make coping somewhat easier.

Terminating the pregnancy.
If testing suggests a defect that will be fatal or extremely disabling, and retesting and interpretation by a genetic counselor confirms the diagnosis, some parents opt to terminate the pregnancy. Should you decide to terminate, an autopsy, in which fetal tissue is carefully examined afterward, may be helpful in determining the chances that the abnormality will repeat in future pregnancies. Most couples, armed with this information and the guidance of a physician or genetic counselor, do try again, with the hope that the tests and the pregnancy will be completely normal next time around. And most often they are.

Prenatal treatment of the fetus.
Treatment may consist of blood transfusion (as in Rh disease), shunts or surgery (to drain an obstructed bladder, for instance), or administration of enzymes or medication (such as steroids to speed lung development when a baby must be delivered early). As technology advances, more kinds of prenatal surgery, genetic manipulation, and other treatments may also become common.

Donating the organs.
If diagnosis indicates that the fetal defects are not compatible with life, it may be possible to donate one or more healthy organs to an infant in need. Some parents find that this provides some consolation for their own loss. A maternal-fetal specialist or neonatologist may be able to provide helpful information in such a situation.

As far as prenatal diagnosis has come, it’s still important to remember that it’s far from infallible. Mistakes happen, even in the best labs and facilities, even with the most skilled professionals wielding the most high-tech equipment—with false positives being much more common than false negatives. That’s why further testing and/or consultation with additional professionals should always be used to confirm a result that indicates there is something wrong with the fetus.

It’s also important to keep in mind that for the vast majority of couples, it will never come to that. Most expectant mothers who undergo prenatal testing receive the diagnosis they’re hoping for right from the start: All is well with their baby and their pregnancy.

O
F COURSE YOU’RE EXPECTING TO
make some adjustments in your everyday life now that you’re expecting (good-bye baby-tees, hello. baby-on-board tees). But you might also be wondering just how drastically your lifestyle will have to change now that you’re living for two. How about that predinner cocktail—will it have to wait until postdelivery? Those regular dips in the hot tub at the gym—are those washed up, too? Can you wipe your bathroom sink with that smelly (but effective) disinfectant? And what’s that you heard about cat litter? Does being pregnant really mean you have to think twice about all those things you’ve never given a second thought to—from letting your best friend smoke in your living room to zapping your dinner in the microwave. In a few cases, you’ll find, the answer is an emphatic yes (as in “no wine for me, thanks”). But in many others, your expectant self will be able to continue doing business—and pleasure—as usual, with maybe just a side of caution (“Honey, it’s your turn to change the cat litter—for the next nine months!”).

“Can I keep up with my regular exercise program now that I’m pregnant?”

In most cases, pregnancy doesn’t mean giving up the sporting life; just remember that while you’re carrying a new life, moderation makes sense. Most practitioners not only permit but encourage
expectant moms whose pregnancies are progressing normally to continue their accustomed workout routines and athletic pursuits for as long as is practical—but with several caveats. Among the most important: Always check with your practitioner before continuing or beginning an exercise program, and never exercise to the point of fatigue. (See
page 215
for more information.)