Double congratulations-you've lost a whole lot of weight, and you're expecting! But as you pat yourself on the back (or the belly), you may also be wondering how having had gastric bypass or lap band surgery will affect your pregnancy. Happily, not that much. Chances are you were advised not to become pregnant for at least the first 12 to 18 months after your surgery-the time of the most drastic weight loss and potential for malnutrition. But once you've passed that benchmark, your chances of having a healthy pregnancy and healthy pregnancy outcome are actually even better than they would have been if you hadn't had the surgery and lost the weight. Still, as you probably know, you'll have to work extra hard to ensure the healthiest outcome: [image] Put your weight loss surgeon on your prenatal team. He or she will be best able to advise your ob-gyn or midwife on some of the specific needs of a postgastric bypass patient. Put your weight loss surgeon on your prenatal team. He or she will be best able to advise your ob-gyn or midwife on some of the specific needs of a postgastric bypass patient.[image] You'll need to keep up with your recommended vitamin supplementation while you're expecting (this is not the time to be at a nutritional disadvantage). A prenatal vitamin is a good start, but you may need more iron, calcium, folic acid, vitamin B You'll need to keep up with your recommended vitamin supplementation while you're expecting (this is not the time to be at a nutritional disadvantage). A prenatal vitamin is a good start, but you may need more iron, calcium, folic acid, vitamin B12, and vitamin A because of certain mal-absorption issues. Be sure to speak to both your prenatal practitioner and your surgeon about your particular supplement needs.[image] Watch your weight closely (with your practitioner, of course). You're used to watching it go down, but now it will have to start going up. If you don't gain enough weight during pregnancy, your baby may not be able to grow to its potential. Make sure you know what your target weight gain is (it may be different than for the average expectant mom), and make sure you have an eating plan in place that will help you reach your weight gain goal. Watch your weight closely (with your practitioner, of course). You're used to watching it go down, but now it will have to start going up. If you don't gain enough weight during pregnancy, your baby may not be able to grow to its potential. Make sure you know what your target weight gain is (it may be different than for the average expectant mom), and make sure you have an eating plan in place that will help you reach your weight gain goal.[image] Watch what you eat, too. As a gastric bypass patient, the quantity of food you can eat is limited, so you'll need to focus on quality (not a bad concept when you're expecting, anyway). Try not to waste calories, and instead try to choose foods that efficiently pack the most nutrients into the smallest volume. Watch what you eat, too. As a gastric bypass patient, the quantity of food you can eat is limited, so you'll need to focus on quality (not a bad concept when you're expecting, anyway). Try not to waste calories, and instead try to choose foods that efficiently pack the most nutrients into the smallest volume.[image] If at any time you experience abdominal pain and excessive bloating, call your doctor right away. If at any time you experience abdominal pain and excessive bloating, call your doctor right away.

As for your part, good self-care will make a big difference. Eliminating all pregnancy risks that are within your control-such as drinking and smoking-will be particularly important for you. Keeping your weight gain on target will be, too-and it's likely that your target will be smaller than the average expectant mom's and monitored by your doctor more closely. ACOG recommends that overweight women gain 15 to 20 pounds and obese women gain no more than 15 pounds, though your practitioner's recommendations may differ.

Even with a scaled-down bottom line to stick to, your daily diet will have to contain adequate calories and be packed with foods that are concentrated sources of vitamins, minerals, and protein (see the Pregnancy Diet in Chapter 5 Chapter 5). Focusing on quality over quantity and making every bite matter will help you make those calories count-and will help your baby get the most nutritional bang for the calories you consume. Taking your prenatal vitamin faithfully will provide extra insurance. (But keep over-the-counter appetite suppressants that you might have been taking prepregnancy off the menu; they can be dangerous during pregnancy. The same goes for beverages that claim to suppress your appetite.) Getting regular exercise, within the guidelines recommended by your doctor, will allow you to eat more of the healthy foods you and your baby need-without packing on too many pounds.

For your next pregnancy, if you are planning on one, try to get as close as possible to your ideal weight before you conceive. It will make everything about pregnancy a lot easier-and less complicated.

Underweight.

"I've always been skinny. How will my pregnancy be affected by my being underweight?"

Pregnancy's definitely a time for eating well and gaining weight-for both the skinny and the not-so-skinny. But if you've come into pregnancy on the super-skinny side (with a BMI of 18.5 or less; see page 166 page 166 for how to calculate yours), you'll have to be filling up your plate even more. That's because there are some potential risks (such as having a small-for-date baby. associated with being pregnant and extremely underweight, particularly if you're also undernourished. But any added risk can be virtually eliminated with a good diet (one that includes not only extra calories but also fresh fruit and vegetables, which provide the vitamins and minerals thin people are sometimes short on); prenatal vitamins; and adequate weight gain. Depending on where you started out on the scale, your practitioner may advise you to gain a little extra-possibly 28 to 40 pounds, instead of the 25 to 35 pounds recommended for the average-weight woman. If you've been blessed with a speedy metabolism that makes putting on pounds tricky, see for how to calculate yours), you'll have to be filling up your plate even more. That's because there are some potential risks (such as having a small-for-date baby. associated with being pregnant and extremely underweight, particularly if you're also undernourished. But any added risk can be virtually eliminated with a good diet (one that includes not only extra calories but also fresh fruit and vegetables, which provide the vitamins and minerals thin people are sometimes short on); prenatal vitamins; and adequate weight gain. Depending on where you started out on the scale, your practitioner may advise you to gain a little extra-possibly 28 to 40 pounds, instead of the 25 to 35 pounds recommended for the average-weight woman. If you've been blessed with a speedy metabolism that makes putting on pounds tricky, see page 181 page 181 for some tips. As long as your weight gain stays on track, though, your pregnancy shouldn't encounter any other bumps (besides that belly bump). for some tips. As long as your weight gain stays on track, though, your pregnancy shouldn't encounter any other bumps (besides that belly bump).

An Eating Disorder.

"I've been fighting bulimia for the last 10 years. I thought I'd be able to stop the bingeing-purging cycle now that I'm pregnant, but I can't seem to. Will it hurt my baby?"

Not if you get the right kind of help right away. The fact that you've been bulimic (or anorexic) for a number of years means your nutritional reserves are probably low, putting your baby and your body at a disadvantage right off the bat. Fortunately, early in pregnancy the need for nourishment is less than it will be later on, so you have the chance to make up for your body's nutritional shortfall before it can hurt your baby.

Very little research has been done in the area of eating disorders and pregnancy, partly because these disorders cause disrupted menstrual cycles, reducing the number of women who suffer with these problems from becoming pregnant in the first place. But the studies that have been done suggest the following: [image] If you get your eating disorder under control, you're just as likely to have a healthy baby as anyone else, all other things being equal. If you get your eating disorder under control, you're just as likely to have a healthy baby as anyone else, all other things being equal.[image] It's critical that the practitioner who is caring for your pregnancy know about your eating disorder (so speak up, even if your condition is in the past). It's critical that the practitioner who is caring for your pregnancy know about your eating disorder (so speak up, even if your condition is in the past).[image] Counseling from a professional who is experienced in treating eating disorders is advisable for anyone who suffers from such a problem, but it is essential when you're pregnant. You may also find support groups helpful (check online, or ask your practitioner or therapist for a recommendation). Counseling from a professional who is experienced in treating eating disorders is advisable for anyone who suffers from such a problem, but it is essential when you're pregnant. You may also find support groups helpful (check online, or ask your practitioner or therapist for a recommendation).[image] Continuing to take laxatives, diuretics, and other drugs favored by bulimics and anorexics can harm your developing baby. They draw off nutrients and fluids from your body before they can be utilized to nourish your baby (and later to produce milk), and they may lead to fetal abnormality if used regularly. These medications, like all others, should not be used by any pregnant woman unless prescribed by a physician who is aware of the pregnancy. Continuing to take laxatives, diuretics, and other drugs favored by bulimics and anorexics can harm your developing baby. They draw off nutrients and fluids from your body before they can be utilized to nourish your baby (and later to produce milk), and they may lead to fetal abnormality if used regularly. These medications, like all others, should not be used by any pregnant woman unless prescribed by a physician who is aware of the pregnancy.[image] Bingeing and purging during pregnancy (in other words, active bulimia) seems to increase the risk of miscarriage, premature birth, and postpartum depression. Putting those unhealthy habits behind you now will allow you to nourish your baby and yourself well. If you're having trouble doing so, make sure you get the help you need. Bingeing and purging during pregnancy (in other words, active bulimia) seems to increase the risk of miscarriage, premature birth, and postpartum depression. Putting those unhealthy habits behind you now will allow you to nourish your baby and yourself well. If you're having trouble doing so, make sure you get the help you need.[image] Not gaining enough weight during pregnancy can lead to a number of problems, including preterm delivery and a baby who is small for his or her gestational age. Not gaining enough weight during pregnancy can lead to a number of problems, including preterm delivery and a baby who is small for his or her gestational age.

Just being committed to conquering your eating disorder, so that you can start nurturing that beautiful little baby of yours, is a first and most important step. You'll also need to understand the dynamics of weight gain in pregnancy. Keep in mind: [image] The pregnant shape is universally viewed as healthy and beautiful. Its roundness is normal, a sign that you're growing a baby. Celebrate those curves! Embrace your pregnant self! The pregnant shape is universally viewed as healthy and beautiful. Its roundness is normal, a sign that you're growing a baby. Celebrate those curves! Embrace your pregnant self![image] You're supposed to gain weight during pregnancy. The right amount of pregnancy weight gain is vital to your baby's growth and well-being as well as to your own health. You're supposed to gain weight during pregnancy. The right amount of pregnancy weight gain is vital to your baby's growth and well-being as well as to your own health.[image] Weight gained at the right rate, on the right foods, will go to the right places (your baby and those essential baby by-products). If you stay within the recommended guidelines (which are higher for those who begin pregnancy significantly underweight), the weight won't be that difficult to shed once the baby arrives. This strategy (a moderate amount of weight gained steadily on nutritious foods) will help ensure a speedier return to your prepregnancy shape postpartum and help ensure a healthier baby. Weight gained at the right rate, on the right foods, will go to the right places (your baby and those essential baby by-products). If you stay within the recommended guidelines (which are higher for those who begin pregnancy significantly underweight), the weight won't be that difficult to shed once the baby arrives. This strategy (a moderate amount of weight gained steadily on nutritious foods) will help ensure a speedier return to your prepregnancy shape postpartum and help ensure a healthier baby.[image] When you starve yourself, you starve your baby. Your baby depends on you for a steady shipment of nutrients. If you don't eat, neither does your baby. If the nutrients you take in are purged (by vomiting, taking laxatives, or taking diuretics), your baby won't have enough left to grow on. When you starve yourself, you starve your baby. Your baby depends on you for a steady shipment of nutrients. If you don't eat, neither does your baby. If the nutrients you take in are purged (by vomiting, taking laxatives, or taking diuretics), your baby won't have enough left to grow on.[image] Exercise can help you keep your weight gain reasonable, while guiding those extra pounds to the right places. But any exercise program you choose should be pregnancy appropriate (check it out with your practitioner first), and strenuous exercise (or too much exercise, which can burn too many calories or raise your temperature excessively) should be avoided. Exercise can help you keep your weight gain reasonable, while guiding those extra pounds to the right places. But any exercise program you choose should be pregnancy appropriate (check it out with your practitioner first), and strenuous exercise (or too much exercise, which can burn too many calories or raise your temperature excessively) should be avoided.[image] All of the weight gain of pregnancy won't drop off in the first few days after delivery. With sensible eating, the average woman returns to close to-but does not hit-her prepregnancy weight about six weeks after delivery. Getting all the weight off and getting back into shape (which requires exercise) can take much longer. For this reason, many women with eating disorders find that negative feelings about their body image cause them to slip back into bingeing and purging or starving during the postpartum period. Because these unhealthy habits could interfere with your ability to recover from childbirth, to parent effectively, and to produce milk if you choose to breastfeed, it's important that you continue professional counseling postpartum with someone experienced in the treatment of eating disorders. All of the weight gain of pregnancy won't drop off in the first few days after delivery. With sensible eating, the average woman returns to close to-but does not hit-her prepregnancy weight about six weeks after delivery. Getting all the weight off and getting back into shape (which requires exercise) can take much longer. For this reason, many women with eating disorders find that negative feelings about their body image cause them to slip back into bingeing and purging or starving during the postpartum period. Because these unhealthy habits could interfere with your ability to recover from childbirth, to parent effectively, and to produce milk if you choose to breastfeed, it's important that you continue professional counseling postpartum with someone experienced in the treatment of eating disorders.

The most important thing to keep in mind: Your baby's well-being depends on your well-being during pregnancy. If you're not well nourished, your baby won't be, either. Positive reinforcement can definitely help, so try putting pictures of cute chubby babies on the fridge, in your office and car, anywhere you might need a reminder of the healthy eating you should be doing. Visualize the food you eat making its way to your baby (and your baby happily gobbling up the meals).

If you can't seem to stop bingeing, vomiting, using diuretics or laxatives, or practicing semistarvation during pregnancy, discuss with your physician the possibility of hospitalization until you get your disorder under control.

Having a Baby After 35.

"I'm 38 and pregnant with my first baby. I've read so much about the risks of pregnancy after 35 and wonder whether I should worry."

Becoming pregnant after 35 puts you in good-and growing-company. While the pregnancy rate among women in their 20s has dropped slightly in recent decades, it has increased nearly 40 percent among women over 35. And though the number of babies born to women in their 40s remains relatively small, their ranks have also increased by a third in recent years.

If you've lived for more than 35 years, you're probably aware that nothing in life is completely risk free. These days, pregnancy risks are very small to begin with, but they do increase slightly and gradually as you get older. However, the many benefits of starting a family at the time that's right for you can far outweigh any small risks (all of which can be reduced anyway, thanks to medical advancements).

The major reproductive risk faced by a woman in your age group is that she might not become pregnant at all because of decreased fertility. Once you've overcome that and become pregnant (congratulations!), you also face a somewhat greater chance of having a baby with Down syndrome. The incidence increases with mom's age: 1 in 1,250 for 25-year-old mothers, about 3 in 1,000 for 30-year-old mothers, 1 in about 300 for 35-year-old mothers, and 1 in 35 for 45-year-old mothers (you'll notice the risk gradually increases with age-it doesn't just spike at 35). It's speculated that this and other chromosomal abnormalities, though still relatively rare, are more common in older women because their eggs are older, too (every woman is born with a lifetime supply of eggs that age along with her), and have had more exposure to X-rays, drugs, infections, and so on. (It is now known, however, that the egg is not always responsible for such chromosomal abnormalities. An estimated minimum 25 percent of Down syndrome cases can be linked to a defect in an older father's sperm.)

Is 35 the Magic Number?

Just because you've already clocked in 35 years doesn't mean you'll necessarily need more or different testing than your younger pregnant pals. In fact, screening tests are recommended for all women, regardless of how many birthdays they've celebrated-and only those whose screens show a possible elevated risk need to consider more invasive prenatal diagnosis.

A handful of other risks increase slightly with age. Being older, particularly over 40, means you might be more likely to develop high blood pressure (particularly if you're overweight), diabetes, or cardiovascular disease during pregnancy-but all of these conditions are more common in older groups in general, and all are usually controllable. Older mothers-to-be are also more subject to miscarriage (because of their older eggs), preeclampsia, and preterm labor. Labor and delivery, on average, are longer and slightly more likely to be complicated, with C-section and other forms of assisted delivery (such as vacuum extraction) more common. In some older women, a decrease in muscle tone and joint flexibility may make labor a little tougher-but for many others, especially those who are in excellent physical shape thanks to regular exercise routines and healthy eating, this isn't the case.

But in spite of these slightly increased risks, there's lots of good news for expectant moms over 35, too. Today's older mothers have more going for them than ever before. Though Down syndrome isn't preventable, it can be identified in utero through a variety of screening and diagnostic tests. Even better news: Today's essentially noninvasive first-trimester screenings (see page 59 page 59), which are recommended to all pregnant women regardless of age, are much more accurate than in the past, which means they screen out moms who don't necessarily need to proceed to a more invasive diagnostic test (even moms-to-be over 35)-saving money and stress. Chronic conditions that are more common in older moms can be well controlled. Drugs and close medical supervision can sometimes forestall preterm labor. And medical breakthroughs continue to decrease risks in the birthing room.

But as much as medical science can do to help you have a safe pregnancy and a healthy baby, it's nothing compared to what you can do yourself through exercise, diet, and quality prenatal care. Just being older doesn't necessarily put you in a high-risk category, but an accumulation of many individual risks can. Eliminate or minimize as many risk factors as you can, and you'll be able to take years off your pregnancy profile-making your chances of delivering a healthy baby virtually as good as those of a younger mother. Maybe even better.

So relax, enjoy your pregnancy, and be reassured. There's never been a better time to be over 35 and expecting a baby.

The Father's Age.

"I'm only 31, but my husband is over 50. Could his age affect our baby?"

Throughout most of history, it was believed that a father's responsibility in the reproductive process was limited to fertilization. Only during the twentieth century (too late to help those queens who lost their heads for failing to produce a male heir. was it discovered that a father's sperm holds the deciding genetic vote in determining his child's gender. And only in the last few decades have researchers begun to suspect that an older father's sperm might contribute to an increased risk of miscarriage or birth defects. Like the older mother's eggs, the older father's spermatocytes (undeveloped sperm) have had longer exposure to environmental hazards and might conceivably contain altered or damaged genes or chromosomes. In fact, researchers found that regardless of the mother's age, a couple's risk of miscarriage increases as the dad's age increases. It also appears that there is an increase in the incidence of Down syndrome when the father is over 50 or 55 (regardless of how old the mother is), though the association is weaker than in the case of maternal age.

Uninsured, Mama?

Having a baby these days can definitely be an expensive proposition-and that's before you even purchase onesie number one. Still, no expectant mother needs to go through pregnancy and childbirth without the prenatal care she and her baby need, even if she's uninsured. If you can't afford to pick up health insurance now, here are some other ways to find that care at a price you can afford: [image] Check online or in the phone book. Search under "Clinics" or "Health Care Centers." Most communities provide health services through organizations such as Planned Parenthood and at women's health centers. Many of these can provide some free care, and most will offer care on a sliding pay-what-you-can basis. Check online or in the phone book. Search under "Clinics" or "Health Care Centers." Most communities provide health services through organizations such as Planned Parenthood and at women's health centers. Many of these can provide some free care, and most will offer care on a sliding pay-what-you-can basis.[image] Turn to the government. If your income is low enough, you may qualify for Medicaid. Through this program, you'll be entitled to prenatal care. If you don't qualify for Medicaid, there are low-cost health insurance programs (that will cover your pregnancy as well as your child's health care after delivery) offered through the government. Ask at any clinic or call (877) KIDS-NOW or (877) 543-7669. If affording nutritious food is an issue-or will be once you're feeding another mouth-contact WIC (Women, Infants, and Children), a government program that provides pregnant and nursing mothers with food and nutrition counseling. For information, contact WIC, Turn to the government. If your income is low enough, you may qualify for Medicaid. Through this program, you'll be entitled to prenatal care. If you don't qualify for Medicaid, there are low-cost health insurance programs (that will cover your pregnancy as well as your child's health care after delivery) offered through the government. Ask at any clinic or call (877) KIDS-NOW or (877) 543-7669. If affording nutritious food is an issue-or will be once you're feeding another mouth-contact WIC (Women, Infants, and Children), a government program that provides pregnant and nursing mothers with food and nutrition counseling. For information, contact WIC, www.fns.usda.gov/wic; (703) 305-2746.[image] Call your local hospital. Some hospitals provide a certain amount of free or low-cost obstetrical care to women who need it. Childbirth classes may also be available at little or no cost to women who can't afford to pay full price for them. Call your local hospital. Some hospitals provide a certain amount of free or low-cost obstetrical care to women who need it. Childbirth classes may also be available at little or no cost to women who can't afford to pay full price for them.[image] As a last resort (and this really should be the very last resort), try the ER. If you experience a pregnancy problem or go into labor before you've been able to secure a practitioner, head to the ER of the nearest hospital immediately. As a last resort (and this really should be the very last resort), try the ER. If you experience a pregnancy problem or go into labor before you've been able to secure a practitioner, head to the ER of the nearest hospital immediately.

Still, the evidence remains inconclusive, mostly because the research involving older dads is still in its infancy. Despite what seems to be a small yet growing body of evidence to implicate paternal age as a factor in birth defects and miscarriages, genetic counselors do not recommend amniocentesis on the basis of a father's age alone. The screening tests that are now offered routinely to every mother-to-be, regardless of her age, should put your mind at ease. If your screening tests turn out normal, you can relax about your husband's age without having to go through amniocentesis.

Genetic Counseling.

"I keep wondering if I might have a genetic problem and not know it. Should I get genetic counseling?"

Just about everyone carries at least one gene for a genetic disorder. But fortunately, because most disorders require a matched pair of genes, one from mom and one from dad, they're not likely to show up in their children. One or both parents can be tested for some of these disorders before or during pregnancy-but such testing usually makes sense only if there is a better-than-average possibility that both parents are carriers of a particular disorder. The clue is often ethnic or geographic. For example, testing for cystic fibrosis is offered for all couples but it is especially important for Caucasians of European descent, because about 1 in 25 are carriers of the condition. Jewish couples whose ancestors came from Eastern Europe should be tested for Tay-Sachs, Canavan disease, and possibly for other disorders. Tay-Sachs has also been noted in other ethnic groups, including Louisiana Cajuns and French Canadians, so getting tested is something to consider if your family has these roots. Similarly, black couples should be tested for the sickle cell anemia trait, and those of Mediterranean and Asian descent for thalassemia (a hereditary form of anemia). In most cases, testing is recommended for one parent; testing the second parent becomes necessary only if the first tests positive.

Pregnancy and the Single Mother.

Are you a single mom-to-be? Just because you don't have a partner doesn't mean you have to go it alone during pregnancy-and you shouldn't try. The kind of support you'll need can come from sources other than a partner. A good friend or a relative you feel close to and comfortable with can step in to hold your hand, emotionally and physically, throughout pregnancy. That person can, in many ways, play the partner role during the nine months and beyond-accompanying you to prenatal visits and childbirth education classes, lending an ear (and a shoulder) when you need to talk about your concerns and fears as well as your excited anticipation, helping you get both your home and life ready for the new arrival, and acting as coach, supporter, and advocate during labor and delivery. And since no one will know better what you're going through than another single mom, you might also consider joining (or starting) a support group for single mothers, or find an online support group (check out the single mom's message board at whattoexpect.com).

Diseases that can be passed on via a single gene from one carrier parent (hemophilia, for example) or by one affected parent (Huntington's disease) have usually turned up in the family before, though it may not be common knowledge. That's why it's important to keep family health history records and to try to dig up as many health details from your parents, grandparents, and other close relatives as you can when you're pregnant (or are trying to conceive).

Most expectant parents, happily, are at such low risk for transmitting genetic problems that they don't need to see a genetic counselor. In many cases, a prenatal practitioner will discuss with a couple the most common genetic issues, referring to a genetic counselor or a maternal-fetal medicine specialist those with a need for more expertise: [image] Couples whose blood tests show they are carriers of a genetic disorder that they might pass on to their children. Couples whose blood tests show they are carriers of a genetic disorder that they might pass on to their children.[image] Parents who have already had one or more children with genetic birth defects. Parents who have already had one or more children with genetic birth defects.[image] Couples who have experienced three or more consecutive miscarriages. Couples who have experienced three or more consecutive miscarriages.[image] Couples who know of a hereditary disorder on any branch of either of their family trees. In some cases (as with cystic fibrosis or certain thalassemias), doing DNA testing of the parents before pregnancy makes interpreting later testing of the fetus much easier. Couples who know of a hereditary disorder on any branch of either of their family trees. In some cases (as with cystic fibrosis or certain thalassemias), doing DNA testing of the parents before pregnancy makes interpreting later testing of the fetus much easier.[image] Couples in which one partner has a congenital defect (such as congenital heart disease). Couples in which one partner has a congenital defect (such as congenital heart disease).[image] Pregnant women who have had positive screening tests for the presence of a fetal defect. Pregnant women who have had positive screening tests for the presence of a fetal defect.[image] Closely related couples; the risk of inherited disease in offspring is greatest when parents are related (for example,. in 9 for first cousins). Closely related couples; the risk of inherited disease in offspring is greatest when parents are related (for example,. in 9 for first cousins).

The best time to see a genetic counselor is before getting pregnant, or in the case of close relatives who intend to start a family, before getting married. A genetic counselor is trained to give couples the odds of their having a healthy child based on their genetic profiles and can guide them in deciding whether or not to have children. But it's not too late even after pregnancy is confirmed. The counselor can suggest appropriate prenatal testing based on the couple's genetic profile, and if testing uncovers a serious defect in the fetus, a genetic counselor can outline for the expectant parents all the options available and help them decide how to proceed. Genetic counseling has helped countless high-risk couples avoid the heartbreak of giving birth to children with serious problems, while helping them realize their dreams of having completely healthy babies.

Prenatal Diagnosis.

Is it a boy or a girl? Will it have blond hair or brown? Green eyes or blue? Will it have mom's mouth and dad's dimples? Dad's voice and mom's knack for numbers (or the other way around)?

Babies definitely keep their parents guessing (and placing friendly bets) long before they actually arrive-sometimes before they're conceived. But the one question that expectant parents wonder about the most is also the one they're most hesitant to speculate on or even talk about: "Will my baby be healthy?"

Until recently, that question could be answered only at birth. Today, it can be answered as early as the first trimester, through prenatal screening and diagnostic tests. Most expectant mothers undergo several screening tests during their 40 weeks-even those whose odds of having a baby with a defect are low (because of age, good nutrition, and excellent prenatal care). That's because such screening tests (from the combined and integrated screenings to the ultrasound and the quad screen) pose no risk to mom or baby but can provide a lot of beneficial reassurance.

Going one step further to definitive diagnostic tests (CVS, amnio, or more detailed ultrasound), however, isn't for everyone. Many parents-particularly those whose screening tests come back negative-can continue to play the waiting game, with the happy assurance that the chances are overwhelming that their babies are indeed completely healthy. But for those whose concerns represent more than normal expectant-parent jitters, the benefits of prenatal diagnosis can far outweigh the risks. Women who are good candidates for such testing include those who: [image] Are over 35 (though an older mom with reassuring screening results may decide, after consultation with her practitioner, to skip the diagnostic tests). Are over 35 (though an older mom with reassuring screening results may decide, after consultation with her practitioner, to skip the diagnostic tests).[image] Have been exposed since conception to a substance or substances that they fear might have been harmful to their developing baby. (Consultation with a physician can help determine whether prenatal diagnosis is warranted in a particular case.) Have been exposed since conception to a substance or substances that they fear might have been harmful to their developing baby. (Consultation with a physician can help determine whether prenatal diagnosis is warranted in a particular case.)[image] Have a family history of genetic disease and/or have been shown to be carriers of such a disease. Have a family history of genetic disease and/or have been shown to be carriers of such a disease.[image] Have a genetic disorder themselves (such as cystic fibrosis or congenital heart disease). Have a genetic disorder themselves (such as cystic fibrosis or congenital heart disease).[image] Have been exposed to infection (such as rubella or toxoplasmosis) that could cause a birth defect. Have been exposed to infection (such as rubella or toxoplasmosis) that could cause a birth defect.[image] Have had pregnancy losses previously, or have had babies with birth defects. Have had pregnancy losses previously, or have had babies with birth defects.[image] Have tested positive on a prenatal screening test. Have tested positive on a prenatal screening test.

Why go through diagnostic tests if there's some risk involved? The best reason for prenatal diagnosis is the reassurance it almost always brings. The vast majority of babies whose possibly- at-risk moms undergo such testing will receive a perfect bill of health-which means that mom and dad can quit worrying and start enjoying their pregnancy.

First Trimester.

First-Trimester Ultrasound.

What is it? One of the simplest screening tests is the ultrasound. Using sound waves so high they can't be heard by the human ear, sonography allows visualization and "examination" of the fetus without X-rays. Though sonography tends to be fairly accurate for most uses, in screening for birth defects the test can yield some false negatives (it seems as though everything is fine, but it's not) and some false positives (it looks as though there is a problem, but there really isn't). One of the simplest screening tests is the ultrasound. Using sound waves so high they can't be heard by the human ear, sonography allows visualization and "examination" of the fetus without X-rays. Though sonography tends to be fairly accurate for most uses, in screening for birth defects the test can yield some false negatives (it seems as though everything is fine, but it's not) and some false positives (it looks as though there is a problem, but there really isn't).

A first-trimester ultrasound (usually a basic level 1 ultrasound) is performed in order to: [image] Confirm the viability of a pregnancy Confirm the viability of a pregnancy[image] Date a pregnancy Date a pregnancy[image] Determine the number of fetuses Determine the number of fetuses[image] Determine the cause of bleeding, if any Determine the cause of bleeding, if any[image] Locate an IUD that was in place at the time of conception Locate an IUD that was in place at the time of conception[image] Locate the fetus prior to CVS or amniocentesis Locate the fetus prior to CVS or amniocentesis[image] Assess the risk for chromosomal abnormality as part of a screening test Assess the risk for chromosomal abnormality as part of a screening test How is it done? Though ultrasound examination is often performed using a wand or transducer over the abdomen (transabdominal), during the first trimester a transvaginal exam may be preferred, especially early on. The procedures can last from 5 to 30 minutes and are painless, except for the discomfort of the full bladder necessary for the first-trimester transabdominal exam. Though ultrasound examination is often performed using a wand or transducer over the abdomen (transabdominal), during the first trimester a transvaginal exam may be preferred, especially early on. The procedures can last from 5 to 30 minutes and are painless, except for the discomfort of the full bladder necessary for the first-trimester transabdominal exam.

During either exam, you'll lie on your back. For the transabdominal, your bare abdomen is spread with a film of gel that will improve the conduction of sound. A transducer is then moved slowly over your belly. For the transvaginal, the transducer is inserted into your vagina. In both procedures, the instruments record echoes of sound waves as they bounce off parts of your baby and translate them into pictures on a viewing screen.

When is it done? Ultrasound is done anytime during the first trimester of pregnancy, depending on the reason for performing one. A gestational sac can be visualized on ultrasound as early as 4 weeks after your last period; a heartbeat can be detected as early as. to 6 weeks (though it might not be detected that early in all cases). For information on second-trimester ultrasound, see Ultrasound is done anytime during the first trimester of pregnancy, depending on the reason for performing one. A gestational sac can be visualized on ultrasound as early as 4 weeks after your last period; a heartbeat can be detected as early as. to 6 weeks (though it might not be detected that early in all cases). For information on second-trimester ultrasound, see page 66 page 66.

How safe is it? After many years of clinical use and study, no known risks and a great many benefits have been associated with the use of ultrasound. Many practitioners order ultrasound exams routinely, at least once in a woman's pregnancy. Still, it's generally recommended by most experts that ultrasound be used in pregnancy only when a valid indication exists. After many years of clinical use and study, no known risks and a great many benefits have been associated with the use of ultrasound. Many practitioners order ultrasound exams routinely, at least once in a woman's pregnancy. Still, it's generally recommended by most experts that ultrasound be used in pregnancy only when a valid indication exists.

First-Trimester Combined Screening.

What is it? First-trimester combined screening involves both an ultrasound and a blood test. First the ultrasound measures a thin layer of fluid that accumulates in the back of the baby's neck, called nuchal translucency (NT). Increased fluid First-trimester combined screening involves both an ultrasound and a blood test. First the ultrasound measures a thin layer of fluid that accumulates in the back of the baby's neck, called nuchal translucency (NT). Increased fluid may may indicate an increased risk of chromosomal abnormalities such as Down syndrome, congenital heart defects, and other genetic disorders. indicate an increased risk of chromosomal abnormalities such as Down syndrome, congenital heart defects, and other genetic disorders.

Then the blood test measures for high levels of PAPP-A (pregnancy- associated plasma protein A) and hCG, two hormones produced by the fetus and passed into the mother's bloodstream. These levels, combined with the NT measurement and the mother's age, can provide a risk assessment for Down syndrome and trisomy 18.

A few medical centers also look for the absence of a nasal bone in the fetus during the ultrasound. Some studies have shown that the lack of a nasal bone during the first trimester may indicate a higher risk of Down syndrome, but other studies haven't backed that up, making this type of assessment somewhat controversial.

Though the first-trimester combined screening test can't give you the definite diagnosis you'd get from more invasive diagnostic tests, it can help you decide whether you want to undergo diagnostic testing. If your screening test shows that your baby may be at an increased risk of having a chromosomal defect, a diagnostic test such as chorionic villus sampling (CVS; see this page) or amniocentesis (see page 64 page 64) will be offered. If the screening test doesn't show an increased risk, your practitioner might recommend that you take the quad screen test in the second trimester (see page 63 page 63) to rule out neural tube defects. And because increased NT measurements are also associated with fetal heart defects, your practitioner might suggest a fetal echocardiogram at around 20 weeks to screen for heart defects if your levels are high. Increased NT measurements may also be linked to a very slightly higher risk of preterm labor, so you may be monitored for that as well.

When is it done? First-trimester combined screening is performed between 11 and 14 weeks of pregnancy. First-trimester combined screening is performed between 11 and 14 weeks of pregnancy.

How accurate is it? This screening test doesn't directly test for chromosomal problems, nor does it diagnose a specific condition. Rather, the results merely provide you with your baby's statistical likelihood of having a problem. An abnormal result on the combined screening test doesn't mean that your baby has a chromosomal problem, just that he or she has an increased risk of having one. In fact, most women who have an abnormal result on their screening test go on to have a perfectly normal and healthy child. At the same time, a normal result is not a guarantee that your baby is normal, but it does mean that it is very unlikely that your baby has a chromosomal defect. This screening test doesn't directly test for chromosomal problems, nor does it diagnose a specific condition. Rather, the results merely provide you with your baby's statistical likelihood of having a problem. An abnormal result on the combined screening test doesn't mean that your baby has a chromosomal problem, just that he or she has an increased risk of having one. In fact, most women who have an abnormal result on their screening test go on to have a perfectly normal and healthy child. At the same time, a normal result is not a guarantee that your baby is normal, but it does mean that it is very unlikely that your baby has a chromosomal defect.

The first-trimester combined screening can detect approximately 80 percent of Down syndrome and 80 percent of trisomy 18 problems.

How safe is it? Both the ultrasound and the blood test are painless (unless you count the needle prick for the blood test) and carry no risk to you or your baby. But there is one caveat. This type of screening test requires sophisticated ultrasound technology. To assure the best possible accuracy of the results, it should only be done with special equipment (a high-quality ultrasound machine) and by physicians and sonographers with special ongoing training. Keep in mind, too, that a risk of the test is that a false-positive (screen-positive) result may lead to follow-up procedures that present greater risk. Before you consider taking any action on the basis of prenatal screening, be sure an experienced physician or genetic counselor has evaluated the results. Get a second opinion if you have any doubts. Both the ultrasound and the blood test are painless (unless you count the needle prick for the blood test) and carry no risk to you or your baby. But there is one caveat. This type of screening test requires sophisticated ultrasound technology. To assure the best possible accuracy of the results, it should only be done with special equipment (a high-quality ultrasound machine) and by physicians and sonographers with special ongoing training. Keep in mind, too, that a risk of the test is that a false-positive (screen-positive) result may lead to follow-up procedures that present greater risk. Before you consider taking any action on the basis of prenatal screening, be sure an experienced physician or genetic counselor has evaluated the results. Get a second opinion if you have any doubts.

Chorionic Villus Sampling.

What is it? Chorionic villus sampling (CVS) is a prenatal diagnostic test that involves taking a small tissue sample from the finger-like projections of the placenta called the chorionic villi and testing the sample to detect chromosomal abnormalities. At present, CVS is used to detect disorders such as Down syndrome, Tay-Sachs, sickle cell anemia, and most types of cystic fibrosis. CVS cannot test for neural tube and other anatomical defects. Testing for specific diseases (other than Down syndrome) is usually done only when there is a family history of the disease or the parents are known to be carriers. It is believed that CVS will eventually be able to detect over 1,000 disorders for which defective genes or chromosomes are responsible. Chorionic villus sampling (CVS) is a prenatal diagnostic test that involves taking a small tissue sample from the finger-like projections of the placenta called the chorionic villi and testing the sample to detect chromosomal abnormalities. At present, CVS is used to detect disorders such as Down syndrome, Tay-Sachs, sickle cell anemia, and most types of cystic fibrosis. CVS cannot test for neural tube and other anatomical defects. Testing for specific diseases (other than Down syndrome) is usually done only when there is a family history of the disease or the parents are known to be carriers. It is believed that CVS will eventually be able to detect over 1,000 disorders for which defective genes or chromosomes are responsible.

How is it done? CVS is most often performed in a hospital, though it can also be performed in a doctor's office. Depending on the location of the placenta, the sample of cells is taken via the vagina and cervix (transcervical CVS) or via a needle inserted in the abdominal wall (transabdominal CVS). Neither method is entirely pain free; the discomfort can range from very mild to moderate. Some women experience cramping (similar to to menstrual cramps) when the sample is taken. Both methods take about 30 minutes, start to finish, though the actual withdrawal of cells takes no more than a minute or two. CVS is most often performed in a hospital, though it can also be performed in a doctor's office. Depending on the location of the placenta, the sample of cells is taken via the vagina and cervix (transcervical CVS) or via a needle inserted in the abdominal wall (transabdominal CVS). Neither method is entirely pain free; the discomfort can range from very mild to moderate. Some women experience cramping (similar to to menstrual cramps) when the sample is taken. Both methods take about 30 minutes, start to finish, though the actual withdrawal of cells takes no more than a minute or two.

It's a ... Surprise!

Diagnostic testing can determine your baby's gender. But unless it's a necessary part of the diagnosis, you'll have the option of either learning the results when you receive the CVS or amnio results (if you haven't already found out through ultrasound results) or waiting to find out the old-fashioned way, in the birthing room. Just make sure your practitioner knows about your decision ahead of time so your surprise won't be inadvertently spoiled.

In the transcervical procedure, while you lie on your back, a long thin tube is inserted through your vagina into your uterus. Guided by ultrasound imaging, the doctor positions the tube between the uterine lining and the chorion, the fetal membrane that will eventually form the fetal side of the placenta. A sample of the chorionic villi is then snipped or suctioned off for diagnostic study.

In the transabdominal procedure, you'll also lie tummy up. Ultrasound is used to determine the location of the placenta and to view the uterine walls. Then, while still under ultrasound guidance, a needle is inserted through your abdomen and the uterine wall to the edge of the placenta, and the cells to be studied are drawn up through the needle.

Because the chorionic villi are of fetal origin, examining them can give a clear picture of the genetic makeup of the developing fetus. Test results are available in one to two weeks.

When is it done? CVS is performed between the 10th and 13th weeks of pregnancy. Its main advantage is the fact that it can be performed in the first trimester and it can give results (and most often, reassurance) earlier in pregnancy than amniocentesis, which is usually performed after the 16th week. The earlier diagnosis is particularly helpful for those who might consider a therapeutic pregnancy termination if something is seriously wrong, since an earlier abortion is less complicated and traumatic. CVS is performed between the 10th and 13th weeks of pregnancy. Its main advantage is the fact that it can be performed in the first trimester and it can give results (and most often, reassurance) earlier in pregnancy than amniocentesis, which is usually performed after the 16th week. The earlier diagnosis is particularly helpful for those who might consider a therapeutic pregnancy termination if something is seriously wrong, since an earlier abortion is less complicated and traumatic.

How accurate is it? CVS is able to accurately detect chromosomal abnormalities 98 percent of the time. CVS is able to accurately detect chromosomal abnormalities 98 percent of the time.

How safe is it? CVS is safe and reliable, carrying a miscarriage rate of about 1 in 370. Choosing a testing center with a good safety record and waiting until right after your 10th week can reduce any risks associated with the procedure. CVS is safe and reliable, carrying a miscarriage rate of about 1 in 370. Choosing a testing center with a good safety record and waiting until right after your 10th week can reduce any risks associated with the procedure.

Some vaginal bleeding can occur after CVS and should not be a cause for concern, though it should be reported. You should also let your doctor know if the bleeding lasts for three days or longer. Since there is a very slight risk of infection with CVS, report any fever that occurs in the first few days following the procedure.

First and Second Trimester.

Integrated Screening.

What is it? Like the first-trimester combined screening, the integrated screening test involves both an ultrasound and blood test results, but in this case, the ultrasound (to measure NT) and a first blood test (to measure the concentration of PAPP-A) are performed during the first trimester, and a second blood test (to measure the same four markers in the blood as in the quad screen. see below) is performed during the second trimester. All three tests are integrated to give you the results. Like other screening tests, the integrated test doesn't directly test for chromosomal problems, nor does it diagnose a specific condition; rather, the results merely provide you with your baby's statistical likelihood of having a problem. Once you have that information, you can decide, together with your practitioner, whether you want to undergo diagnostic testing. Like the first-trimester combined screening, the integrated screening test involves both an ultrasound and blood test results, but in this case, the ultrasound (to measure NT) and a first blood test (to measure the concentration of PAPP-A) are performed during the first trimester, and a second blood test (to measure the same four markers in the blood as in the quad screen. see below) is performed during the second trimester. All three tests are integrated to give you the results. Like other screening tests, the integrated test doesn't directly test for chromosomal problems, nor does it diagnose a specific condition; rather, the results merely provide you with your baby's statistical likelihood of having a problem. Once you have that information, you can decide, together with your practitioner, whether you want to undergo diagnostic testing.

When is it done? The ultrasound is performed between the 10th and 14th weeks. The first blood test is done on the same day as the ultrasound, and the second blood test is done between 16 and 18 weeks. The results are reported to you after the second blood test. The ultrasound is performed between the 10th and 14th weeks. The first blood test is done on the same day as the ultrasound, and the second blood test is done between 16 and 18 weeks. The results are reported to you after the second blood test.

How accurate is it? A test gathering and integrating information from both the first and second trimester of pregnancy is more effective than one that uses information from the first or second trimesters alone. With the integrated screening test, about 90 percent of Down syndrome cases and 80 to 85 percent of neural tube defects are detected. A test gathering and integrating information from both the first and second trimester of pregnancy is more effective than one that uses information from the first or second trimesters alone. With the integrated screening test, about 90 percent of Down syndrome cases and 80 to 85 percent of neural tube defects are detected.

How safe is it? Both the ultrasound and the blood tests are painless and carry no risk to the mom or her baby. Both the ultrasound and the blood tests are painless and carry no risk to the mom or her baby.

Second Trimester.

Quad Screening.

What is it? Quad screening is a blood test that measures the levels of four substances produced by the fetus and passed into the mother's bloodstream: alpha-fetoprotein (AFP), hCG, estriol, and inhibin-A. (Some doctors test only for three of the substances in a triple screen.) High levels of AFP may suggest the possibility (but by no means the probability) that a baby is at higher risk for a neural tube defect. Low levels of AFP and abnormal levels of the other markers may indicate that the developing baby may be at higher risk for a chromosomal abnormality, such as Down syndrome. The quad screening, like all screening tests, can't diagnose a birth defect; it can only indicate a higher risk. Any abnormal result simply means that further testing is needed. Quad screening is a blood test that measures the levels of four substances produced by the fetus and passed into the mother's bloodstream: alpha-fetoprotein (AFP), hCG, estriol, and inhibin-A. (Some doctors test only for three of the substances in a triple screen.) High levels of AFP may suggest the possibility (but by no means the probability) that a baby is at higher risk for a neural tube defect. Low levels of AFP and abnormal levels of the other markers may indicate that the developing baby may be at higher risk for a chromosomal abnormality, such as Down syndrome. The quad screening, like all screening tests, can't diagnose a birth defect; it can only indicate a higher risk. Any abnormal result simply means that further testing is needed.

Interestingly, studies indicate that women who receive abnormal results on their quad screen but receive normal results on follow-up testing such as amniocentesis may may still be at very slightly increased risk of certain pregnancy complications, such as a small-for- gestational-age fetus, preterm delivery, or preeclampsia. If you receive results like this, ask your practitioner what steps you can take to reduce the chances of any potential complications later on, keeping in mind that the association between abnormal results and such complictions is very small to begin with. still be at very slightly increased risk of certain pregnancy complications, such as a small-for- gestational-age fetus, preterm delivery, or preeclampsia. If you receive results like this, ask your practitioner what steps you can take to reduce the chances of any potential complications later on, keeping in mind that the association between abnormal results and such complictions is very small to begin with.

When is it done? Quad screening is performed between weeks 14 and 22. Quad screening is performed between weeks 14 and 22.

How accurate is it? The quad screen can detect an increased risk of the defects for approximately 85 percent of neural tube defects, nearly 8. percent of Down syndrome cases, and 80 percent of trisomy 18 problems. The false-positive rate for the independent quad screen is high. Only 1 or 2 out of 50 women with abnormally high readings eventually prove to have an affected fetus. In the other 48 or 49, further testing reveals that the reason the hormone levels are abnormal is that there is more than one fetus, the fetus is either a few weeks older or younger than originally thought, or the results of the test were just wrong. If the woman is carrying only one fetus and the ultrasound shows the dates are correct, an amniocentesis is offered as follow-up. The quad screen can detect an increased risk of the defects for approximately 85 percent of neural tube defects, nearly 8. percent of Down syndrome cases, and 80 percent of trisomy 18 problems. The false-positive rate for the independent quad screen is high. Only 1 or 2 out of 50 women with abnormally high readings eventually prove to have an affected fetus. In the other 48 or 49, further testing reveals that the reason the hormone levels are abnormal is that there is more than one fetus, the fetus is either a few weeks older or younger than originally thought, or the results of the test were just wrong. If the woman is carrying only one fetus and the ultrasound shows the dates are correct, an amniocentesis is offered as follow-up.

How safe is it? Because the quad screen requires only a blood sample, it is completely safe. The major risk of the test is that a positive result may lead to follow-up procedures that present greater risk. Before you consider taking any action on the basis of prenatal screening, be sure an experienced physician or genetic counselor has evaluated the results. Because the quad screen requires only a blood sample, it is completely safe. The major risk of the test is that a positive result may lead to follow-up procedures that present greater risk. Before you consider taking any action on the basis of prenatal screening, be sure an experienced physician or genetic counselor has evaluated the results.

Amniocentesis.

What is it? The fetal cells, chemicals, and microorganisms in the amniotic fluid surrounding the fetus provide a wide range of information about the growing baby inside you, such as genetic makeup, present condition, and level of maturity. Being able to extract and examine some of the fluid through amniocentesis has been one of the most important advances in prenatal diagnosis. It is offered when: The fetal cells, chemicals, and microorganisms in the amniotic fluid surrounding the fetus provide a wide range of information about the growing baby inside you, such as genetic makeup, present condition, and level of maturity. Being able to extract and examine some of the fluid through amniocentesis has been one of the most important advances in prenatal diagnosis. It is offered when: [image] Results of a screening test (the combined first-trimester screen, the integrated screen, triple or quad screen, or ultrasound. turn out to be abnormal, and evaluation of the amniotic fluid is necessary to determine whether or not there actually is a fetal abnormality. Results of a screening test (the combined first-trimester screen, the integrated screen, triple or quad screen, or ultrasound. turn out to be abnormal, and evaluation of the amniotic fluid is necessary to determine whether or not there actually is a fetal abnormality.[image] The mother is older (usually over age 35), primarily to determine if the fetus has Down syndrome (though an older mom with reassuring screening results may opt, in consultation with her practitioner, to skip amnio). The mother is older (usually over age 35), primarily to determine if the fetus has Down syndrome (though an older mom with reassuring screening results may opt, in consultation with her practitioner, to skip amnio).[image] The couple has already had a child with a chromosomal abnormality, such as Down syndrome, a metabolic disorder, or an enzyme deficiency such as cystic fibrosis (CF). The couple has already had a child with a chromosomal abnormality, such as Down syndrome, a metabolic disorder, or an enzyme deficiency such as cystic fibrosis (CF).[image] The mother is a carrier of an X-linked genetic disorder, such as hemophilia (which she has a 50 percent chance of passing on to any son she bears). The mother is a carrier of an X-linked genetic disorder, such as hemophilia (which she has a 50 percent chance of passing on to any son she bears).[image] Both parents are carriers of an autosomal recessive inherited disorder, such as Tay-Sachs disease or sickle cell anemia, and thus have a 1 in 4 chance of bearing an affected child. Both parents are carriers of an autosomal recessive inherited disorder, such as Tay-Sachs disease or sickle cell anemia, and thus have a 1 in 4 chance of bearing an affected child.[image] Toxoplasmosis, fifth disease, cytomegalovirus, or other fetal infection is suspected. Toxoplasmosis, fifth disease, cytomegalovirus, or other fetal infection is suspected.[image] It is necessary to assess the maturity of the fetal lungs late in pregnancy (among the last organs ready to function on their own). 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 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 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. 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.) 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.)