What is amniocentesis?

Amniocentesis is a prenatal test that allows your healthcare practitioner to gather information about your baby's health from a sample of your amniotic fluid. This is the fluid that surrounds your baby in the uterus.

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Inside pregnancy: Weeks 15 to 20

A 3D animated look at a baby in the second trimester of pregnancy.

The most common reason to have an "amnio" is to determine whether a baby has certain genetic disorders or a chromosomal abnormality, such as Down syndrome. Amniocentesis (or another procedure, called chorionic villus sampling (CVS) can diagnose these problems in the womb. Amniocentesis is usually done when a woman is between 15 and 20 weeks pregnant. Though all women should be offered the option of having an amnio, women who choose to have this test are primarily those at increased risk for genetic and chromosomal problems, in part because the test is invasive and carries a small risk of miscarriage. Here are a few other reasons that amniocentesis may be done:
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To assess the maturity of your baby's lungs when considering an early delivery for medical reasons (unless it's clear the baby needs to be delivered immediately regardless of lung maturity To diagnose or rule out a uterine infection To check on the well-being of your baby if you have a blood sensitization, such as Rh sensitization. This is a complex condition that can occur if your blood is a different type than your baby's. (Note: Obstetricians are increasingly using Doppler ultrasound for this purpose instead of amnio.)

What disorders and defects can amniocentesis detect?

Amniocentesis is used to detect:

Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome and Klinefelter syndrome). Amniocentesis is more than 99 percent accurate in diagnosing these conditions. Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and TaySachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid.

An amniocentesis cannot, however, detect other structural birth defects such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio.

What factors would put me at increased risk of having a baby with a genetic abnormality or disorder?
Some factors to consider include: Down syndrome screening results You had a screening test that indicated your baby is at a higher-than-average risk for Down syndrome or another chromosomal problem. Ultrasound results An ultrasound showed that your baby has structural defects associated with a chromosomal problem. Carrier screening results You and your spouse are carriers of a recessive genetic disorder such as cystic fibrosis or sickle cell disease. Your history You've previously been pregnant with a child with certain genetic abnormalities and may have a higher risk of this happening again. Your family history You or your partner has a chromosomal abnormality or genetic disorder or a family history that puts your child at increased risk for genetic problems. Your age Anyone can have a baby with a chromosomal abnormality, but the risk rises with the mother's age. For example, your likelihood of carrying a baby with Down syndrome rises from about 1 in 1,295 at age 20 to 1 in 82 at age 40.

What is the risk of miscarriage from amniocentesis?

The risk of miscarriage due to amniocentesis is low. Because a certain percentage of women will end up miscarrying in the second trimester anyway, there's no way of knowing for sure whether a miscarriage following an amnio was actually caused by the procedure. Estimates vary, but according to the American College of Obstetricians and Gynecologists (ACOG), the loss rate from the procedure is as low as 1 in 300 to 500 and perhaps even lower if the doctor or center has a lot of experience performing amnios.

Is there any way to reduce the risk?

Ask your practitioner or genetic counselor to refer you to a doctor with plenty of experience or a center that performs a lot of amnios. And ask about the estimated procedure-related miscarriage rate of the doctor or the center where you're considering having the procedure done. You'll also want to make sure that an experienced registered diagnostic medical sonographer provides continuous ultrasound guidance during the procedure. This greatly improves the chances that the doctor will be able to obtain enough fluid on the first try, so you can avoid having to repeat the procedure. And when continuous ultrasound guidance is used, injuries to the baby from the amnio needle are very rare.

Can I meet with a genetic counselor before deciding whether to have an amnio?
Yes. In fact, most testing centers require that you meet with a genetic counselor to discuss the risks and benefits of various methods of prenatal screening and testing before you have an invasive procedure like amniocentesis or CVS. The counselor will take down your family history and ask questions about your pregnancy. Your answers will enable the counselor to give you a sense of your risk for having a baby with chromosomal problems or a particular genetic disease. Then you can decide whether you want to be screened, go right for CVS or amnio, or skip the testing altogether.

How can I decide what's right for me?

ACOG recommends that women of all ages be offered first- and second-trimester screening and diagnostic testing options. Your practitioner or genetic counselor should discuss the pros and cons of the available approaches with you. But ultimately, whether or not to test is a personal decision. Many women opt for screening and then make a decision about diagnostic testing based on the initial results. Other women opt for diagnostic testing right away. (They may know that they're at high risk for a chromosomal problem or a condition that can't be detected by screening or they may feel that they want to know as much as possible about their baby's condition and are willing to live with the small risk of miscarriage to find out.) Some women decide to have no screening or testing.

If you opt for screening first, you can then decide with the help of your practitioner or genetic counselor whether your results indicate a high enough risk that you want to have CVS or amnio to determine whether a problem exists. You'll need to weigh your need to know about your baby's condition against the small chance that diagnostic testing could cause a miscarriage. Some women who opt for invasive testing are pretty clear in advance that they would terminate the pregnancy if a serious problem were found. Others may decide to have an amnio even though they aren't sure what they'd do if they got bad news. Some women may decide to have an amnio even if they know they would never terminate a pregnancy. They may feel that finding out that their baby will have special needs will help them prepare emotionally for the challenges ahead. In certain cases, they may want to switch to a better-equipped hospital with specialists. There are a few conditions that may be treated while the baby is still in the womb. So if there's a strong suspicion that your baby may have one of these rare problems, you might opt for an amnio to find out. On the other hand, some women feel strongly about not having a procedure that increases their risk of miscarriage, especially if the results aren't going to affect the management of their pregnancy. So they decide not to have invasive testing. There's no one right decision. Individual parents-to-be have different feelings about what risks are acceptable and may arrive at different conclusions when facing the same set of circumstances.

If I choose diagnostic testing, how do I decide between amnio and CVS?

Both tests can tell you whether your baby has a chromosomal problem or certain genetic disorders. CVS is done earlier in pregnancy (usually between 11 and 12 weeks), so you can find out sooner about your baby's condition. If everything's okay, your mind will be put at ease that much sooner. Or, if there is a serious problem and you opt to terminate the pregnancy, you'll be able to do so while you're still in the first trimester. On the other hand, you may prefer to wait for the results from second-trimester screening before subjecting yourself to an invasive test. At that point, amniocentesis would be your only option. Other considerations may influence your decision as well. For example, if you're at high risk for having a baby with a neural tube defect, you may want to have amniocentesis, as CVS cannot diagnose these defects. CVS is generally thought to have a slightly higher miscarriage rate than amniocentesis, but this may not be the case everywhere. Experienced doctors and medical centers that perform a lot of these procedures may have similar low miscarriage rates for both.

Before making a decision, you'll want to discuss all of these issues with your partner, your health practitioner, and possibly a genetic counselor.

What's amniocentesis like?

Before you have your amnio, you'll have an ultrasound to measure your baby and check his basic anatomy. (Some testing centers do this when you come in for your amnio, while others do it in advance.) For the amnio itself, you'll lie on an examining table and your belly will be cleaned with alcohol or an iodine solution. Ultrasound is used to pinpoint a pocket of amniotic fluid a safe distance from both the baby and the placenta. This part can take up to 20 minutes. Then, under continuous ultrasound guidance, the doctor will insert a long, thin, hollow needle through your abdominal wall and into the sac of fluid around your baby. She'll withdraw a small amount of amniotic fluid about an ounce, or two tablespoons and then remove the needle. Withdrawing the fluid can take a few minutes but usually takes less than 30 seconds. Your baby will make more fluid to replace what's taken out. You may feel some cramping, pinching, or pressure during the procedure or you may feel no discomfort at all. The amount of discomfort or pain varies among women and even from one pregnancy to the next. You may choose to have your abdomen numbed first with a local anesthetic, but the pain from the anesthesia injection is likely to be worse than that of the amnio itself, and most moms-to-be decide that one needle is enough. Afterward, your doctor may use an external fetal monitor to listen to the baby's heartbeat for reassurance. Note: If your blood is Rh-negative, you'll need a shot of Rh immune globulin after amniocentesis unless the baby's father is Rh-negative as well. (Your baby's blood may mix with yours during the procedure and it may not be compatible.)

What happens after the procedure?

You'll need to take it easy for the rest of the day, so arrange for someone to drive you home. Avoid any heavy lifting, intercourse, and air travel for the next two to three days. You may have some minor cramping for a day or so. If you have significant cramping or vaginal spotting, or you're leaking amniotic fluid, call your practitioner immediately. They could be signs of impending miscarriage. Also call right away if you have a fever, which could be a sign of an infection.

When will I get the results?

You should have the full results within one to two weeks.

During this period, a laboratory analyzes the fluid sample, measuring the amount of alphafetoprotein (AFP) in the fluid. The lab also takes some of the baby's living cells from the fluid and allows them to reproduce for a week or two, then checks the cells for chromosomal abnormalities and evidence of certain genetic birth defects. (You can also find out your baby's sex if you want to.) In certain circumstances, you may get preliminary results while you're waiting for the cells to reproduce. For example, in some cases, a technique called fluorescence in situ hybridization (FISH) may be used to look for select problems. These results are available quickly, often in a couple of days.

What happens if my baby is found to have a problem?

You will be offered genetic counseling so that you can get more information and discuss your options. Some women opt to terminate the pregnancy, while others decide to continue. Whichever route you choose, you may find that you want further counseling or support. Some women find support groups helpful, others may want individual counseling, and some may choose both. Be sure to let your practitioner and genetic counselor know if you need more help so they can give you the appropriate referrals. Join BabyCenter's online Amnio Support & Information Group.

Pregnancy and Amniocentesis

During pregnancy, the fetus is surrounded by amniotic fluid, a substance much like water. Amniotic fluid contains live fetal skin cells that are normally shed during growth and other substances, such as alpha-fetoprotein (AFP). These substances provide important information about your baby's health before birth.

What Is Amniocentesis?
Amniocentesis is a prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the fetus and is tested. The sample of amniotic fluid (less than one ounce) is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for analysis. Different tests can be performed on a sample of amniotic fluid, depending on the genetic risk and indication for the test.

Why Is an Amniocentesis Performed?

Amniocentesis is performed to look for certain types of birth defects, such as Down syndrome, a chromosomal abnormality.

Because amniocentesis presents a small risk for both the mother and her baby, the prenatal test is generally offered to women who have a significant risk for genetic diseases, including those who:
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Have an abnormal ultrasound. Have a family history of certain birth defects. Have previously had a child or pregnancy with a birth defect. Will be 35 or older at the time of delivery.

Amniocentesis does not detect all birth defects, but it can be used to detect the following conditions if the parents have a significant genetic risk:
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Down syndrome Sickle cell disease Cystic fibrosis Muscular dystrophy Tay-Sachs and similar diseases

Amniocentesis can also detect certain neural tube defects (diseases where the brain and spinal column don't develop properly) such as spina bifida and anencephaly. Because ultrasound is performed at the time of amniocentesis, it may detect birth defects that are not detected by amniocentesis (such as cleft palate, cleft lip, club foot, or heart defects). There are some birth defects, however, that will not be detected by either amniocentesis or ultrasound. If you are having an amniocentesis, you may ask to find out the baby's sex; amniocentesis is the most accurate way to determine the baby's gender before birth. An amniocentesis can also be done during the third trimester of the pregnancy to determine if the baby's lungs are mature enough for delivery, in cases where an early delivery may be warranted. Another indication could be to evaluate for infection in the amniotic fluid in certain situations.

When Is Amniocentesis Performed?

If your doctor has recommended an amniocentesis, the procedure is usually scheduled between the 15th and 18th week of pregnancy.

How Accurate Is Amniocentesis?

The accuracy of amniocentesis is about 99.4%. Amniocentesis may occasionally be unsuccessful due to technical problems such as being unable to collect an adequate amount of amniotic fluid or failure of the collected cells to grow when cultured.

Does Amniocentesis Have Risks?

Yes. There is a small risk that an amniocentesis could cause a miscarriage (less than 1%, or approximately 1 in 200 to 1 in 400). Injury to the baby or mother, infection, and preterm labor are other potential complications that can occur, but are extremely rare.

Can I Choose Not to Have an Amniocentesis?

Yes. You will receive genetic counseling before the procedure. After the risks and benefits of amniocentesis have been thoroughly explained to you, you can choose whether or not you want to have the procedure.

What Happens During an Amniocentesis?

A small area of the abdomen is cleansed with an antiseptic to prepare for the amniocentesis. You may receive a local anesthetic (pain-relieving medication) to reduce any discomfort. The doctor first locates the position of the fetus and placenta with an ultrasound. Under ultrasound guidance, the doctor inserts a thin, hollow needle through your abdomen and uterus, and into the amniotic sac, away from the baby. A small amount of fluid (less than an ounce) is removed through the needle and sent for laboratory analysis. You may feel minor menstrual-like cramping or discomfort; this is not unusual during the amniocentesis or for a few hours after the procedure.

Can I Resume Normal Activities After an Amniocentesis?

After an amniocentesis, it is best to go home and relax for the remainder of the day. You should not exercise or perform any strenuous activity, lift anything over 20 pounds (including children), and you should avoid sexual relations. You may take two Tylenol (acetaminophen) every 4 hours if needed to relieve discomfort. The day after the procedure, you may resume all of your normal activities unless otherwise directed by your doctor.

When Should I Call My Doctor After an Amniocentesis?

Call your doctor if you develop a fever or have bleeding, vaginal discharge, or abdominal pain more than mild cramps.

When Will I Receive the Results of the Amniocentesis?

The results of the amniocentesis are generally available in within 2-3 weeks. If you have not received the results within 3 weeks, please call your health care provider.

Amniocentesis

Amniocentesis is a test during pregnancy that removes a small amount of fluid from the sac around the baby to look for birth defects and chromosome problems.

How the Test is Performed

Amniocentesis is done on an outpatient basis. You do not need to stay in the hospital. The doctor will find the exact location of the baby, usually by performing a pregnancy ultrasound. The health care provider will clean an area of skin on the mother's belly area. A numbing medication (anesthetic) may be applied to the skin, or a local anesthetic may be injected into the skin. The doctor inserts a long, thin needle through the abdomen and into the womb (uterus). A small amount of fluid is taken from the fluid-filled sac that surrounds the baby.

How to Prepare for the Test

Your bladder must be full for the ultrasound. There are no food or drink restrictions. You may need to provide a blood sample to determine your blood type and Rh factor. You may get an injection of a medication called Rhogam if you are Rh negative. You will need to sign a consent form before the test.

How the Test Will Feel

If an anesthetic is used, you may feel a sharp, stinging sensation for a few seconds. When the needle enters the amniotic sac, you may feel a sharp pain lasting a few seconds. Some women feel pressure in the lower abdomen when the fluid is pulled out. After the procedure, you may have some minor cramping.

Why the Test is Performed

The test can find chromosome problems such as:
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Anencephaly Down syndrome

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Rare, inherited metabolic disorders Spina bifida and other structure problems

Later on in a pregnancy, the test may be used to find problems such as:
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Infection Rh incompatibility

This test is also sometimes done later in pregnancy to determine whether the baby's lungs are developed if there is a condition that requires early delivery.

Normal Results
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No defects in the chromosomes No excess of alpha fetoprotein or bilirubin

Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.

What Abnormal Results Mean

Amniocentesis can be used to diagnose a large number of gene and chromosome problems in the baby. In addition, it can help:
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Determine how well the baby's lungs are developed Diagnose neural tube defects (such as spina bifida) Diagnose Rh incompatibility

DNA testing is available for many of the diseases that may be detected during amniocentesis. Ask your obstetrician or geneticist if you have a question about a specific disease.

Risks
Risks are minimal, but may include:
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Infection or injury to the baby Miscarriage Leaking of amniotic fluid Vaginal bleeding

Considerations
There may be alternatives to the amniocentesis. Discuss these other tests with your health care provider.

Alternative Names
Culture - amniotic fluid; Culture - amniotic cells INTRODUCTION Amniocentesis is a test done during pregnancy to get information about the fetus. The most common reason for amniocentesis is to determine for sure whether a fetus has certain genetic problems, such as Down syndrome. This test is usually done between 15 and 17 weeks of pregnancy. Amniocentesis can also provide information about:
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Neural tube defects (such as spina bifida or anencephaly) Blood type of the fetus (which can be important if the mother's blood contains antibodies that can react with the fetus's red blood cells) Genetic disorders in the fetus, such as sickle cell anemia Infection in the fetus Readiness of the fetus's lungs to live outside the uterus (if done late in pregnancy)

More detailed information about amniocentesis is available by subscription. (See "Amniocentesis: Technique and complications".) AMNIOCENTESIS PROCEDURE The first step in the procedure is to perform an ultrasound of the uterus. With ultrasound, the doctor can see the fetus, amniotic fluid, and the placenta. After cleaning the abdomen, the doctor inserts a needle and uses the ultrasound picture to guide the needle safely into a pocket of amniotic fluid. The doctor removes a small amount of fluid (about one ounce). The needle stick is mildly uncomfortable or crampy. Occasionally, the doctor will need to insert the needle more than once to get enough fluid. If there is more than one fetus, the doctor may need to take a sample of fluid from around each fetus. The sample of amniotic fluid is then sent to a laboratory for testing. In a small number of cases, the fluid does not have enough cells. In these rare cases, you may be asked to have another amniocentesis. AMNIOCENTESIS COMPLICATIONS Amniocentesis involves certain risks. Complications can include:

Leakage of amniotic fluid Leakage of amniotic fluid sometimes happens after amniocentesis. In most cases, there is only a small amount of fluid leakage that stops on its own within one week. In rare cases, leakage can be ongoing. If this occurs, the mother and fetus are monitored closely for signs of problems, such as infection. In these rare cases, there is an increased risk of pregnancy complications, including preterm delivery. The risk of these complications usually depends on how much fluid is left around the fetus. Injury to the fetus There might be a very small increased risk of problems developing in the fetus because of amniocentesis. This might include clubfoot, hip dislocation, and lung problems. Talk to your doctor about these risks before having amniocentesis. Infection If you have a chronic infection, like HIV, or hepatitis, there is a chance that your fetus could become infected because of the amniocentesis. The risk is probably very small, but you should talk to your doctor about the risks if you have one of these infections. Miscarriage Studies have shown that women who have amniocentesis have a small increased risk of miscarriage. Fortunately, this complication is rare. The risk of miscarriage related to amniocentesis is estimated to be 1 in 300 to 500 (0.2 to 0.3 percent) [1]. AFTER THE AMNIOCENTESIS Immediately after the procedure, some women have mild cramping, a small amount of vaginal bleeding, and a small amount of amniotic fluid leaking from the vagina. This should all resolve quickly. However, you should call your doctor if:
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You continue to leak fluid or bleed You have severe cramping lasting several hours You have a fever (temperature higher than 100.4F or 38C) after the amniocentesis

Some doctors recommend that you avoid having sex and exercising on the day of the amniocentesis. You can resume your normal activities the day after the amniocentesis. Women who have Rh negative blood type (eg, A, B, AB, or O negative) are usually given a shot called Rh(D) immune globulin (RhoGam) after amniocentesis. This shot helps protect future pregnancies against problems that can develop if you are Rh negative and you are pregnant with a fetus who is Rh positive. AMNIOCENTESIS RESULTS Most labs are able to provide results within 7 to 14 days; lung maturity results take only a few hours. Ask your doctor or nurse when you can expect to have the results.

OTHER TESTING OPTIONS Amniocentesis is one option that you have to get information about your fetus. It is not a required test. You should discuss the risks and benefits of this test with your doctor. For genetic information, the chorionic villus sampling (CVS) is an alternative to amniocentesis. An advantage of CVS is that it can be done earlier in the pregnancy than amniocentesis (at 10 to 12 weeks of pregnancy). However, CVS has risks that are similar to amniocentesis (leakage of fluid, infection, miscarriage). More information about CVS is available separately. (See "Patient information: Chorionic villus sampling".) There are other tests that can provide some information about your fetus's risk of having Down syndrome. However, these tests do not tell you for sure if your fetus is affected. They only provide you with information about the probability of the fetus having Down syndrome. Some women prefer to have this type of test, called a screening test, before making up their mind about having an invasive test like amniocentesis or CVS. More information about screening tests is available separately. (See "Patient information: Should I have a screening test for Down syndrome during pregnancy?".) Fetal blood sampling, which can be performed after about 20 weeks of gestation, can also be used to perform fetal genetic tests or tests for infection, but is riskier than amniocentesis. Amniocentesis is the only way to obtain information about fetal lung maturity. WHERE TO GET MORE INFORMATION

What is amniocentesis?
An amniocentesis is a diagnostic test usually done between 15 to 20 weeks of pregnancy. This test involves removing small amount of amniotic fluid (the fluid surrounding a developing fetus) from the uterus. The amniotic fluid can be tested to determine if the fetus has certain kinds of birth defects. An ultrasound is used to visualize the baby and a very thin needle is inserted into the lower abdomen (not through the belly button) and small amount (about one ounce) of amniotic fluid is removed. The amniotic fluid contains fetal skin cells that have sloughed off and are floating in the amniotic fluid. These skin cells are taken to a laboratory and a karyotype test is performed to give a picture of the babys chromosomes. FISH testing may also be performed.

What does an amniocentesis test for?

In general, an amniocentesis tests for two things -- chromosome abnormalities such as Down syndrome, and neural tube defects such as spina bifida and anencephaly.

A karyotype or FISH test is done on the fetal skin cells to look at the fetal chromosomes. The most common chromosome abnormality is Down syndrome which is cause by having an extra #21 chromosome. An amniocentesis also tests for other chromosome abnormalities including trisomy 18 and trisomy 13. Testing detects over 99% of all chromosome abnormalities. An amniocentesis tests for open neural tube defects, such as spina bifida and anencephaly, by measuring a protein called alpha-fetoprotein (AFP) which detects 96% of all open neural tube defects.

What Doesn't an Amniocentesis Test For?

Neither amniocentesis or chorionic villi sampling can test for all birth defects. Every pregnancy has a risk of about 3% to 5% for different types of birth defects including things such as autism, cleft lip, forms of mental retardation other than Down syndrome and heart defects. No prenatal test is available to test for all birth defects. So while normal results from an amniocentesis are reassuring, they are not a 100% guarantee that your baby will have no health problems. If you are worried about a specific genetic disorder that you are worried about, you may want to ask your doctor or genetic counselor if testing is prenatal testing is available for that disorder.

What does an amniocentesis really feel like?

Most women are surprised at how painless an amniocentesis is. Some women have an uncomfortable pressure or cramping feeling during the procedure but most feel no pain at all. The procedure is generally quick -- about 30 seconds to one minute. An ultrasound is used throughout the procedure to monitor the position of the baby and to make sure that the needle doesn't touch the baby.

How does an amniocentesis diagnose Down syndrome?

Amniotic fluid contains fetal skin cells that have sloughed off. These skin cells are taken to a laboratory and tested to determine if the fetus has Down syndrome. Two different tests -- FISH testing and karyotyping -- can be done to determine if a fetus has Down syndrome. Both FISH testing and karyotyping directly analyze the fetuss chromosomes and determine whether or not the fetus has Down syndrome or another trisomy. FISH testing does not give you a complete picture of all the babys chromosomes, but it can give you a quick answer about trisomies. Results of a FISH test are generally available in 3 to 4 days. A karyotype takes longer (up to two weeks), but gives you more complete information about the babys chromosomes.

Results
If your results are abnormal, you should talk with your doctor or with a genetics specialist about what your results mean. It is important to get accurate, up-to-date information about any diagnosis that you receive from an amniocentesis.

Amniocentesis
Approved by the BabyCentre Medical Advisory Board Last reviewed: September 2011 [Show references]

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What is an amniocentesis? What kinds of abnormalities can amniocentesis identify? Should I have an amniocentesis? When will I have the test? How is amniocentesis performed? How long will the procedure take? What risks are associated with amniocentesis? Will having an amniocentesis hurt? Are there any after-effects? Will I get the results straight away? How will I be told the results?

What is an amniocentesis?
Amniocentesis is a test during which your doctor takes a small sample of amniotic fluid from around your baby. This fluid contains some of your baby s cells which hold essential genetic information. This sample is then examined in a laboratory to check for any abnormalities. An amniocentesis is a diagnostic test, so it can tell you with almost complete certainty whether or not your baby has a particular condition. The test can also reveal whether you're having a boy or a girl, so if you'd rather not know yet, say.

What kinds of abnormalities can amniocentesis identify?

The test is used to detect chromosomal disorders. These are problems which might exist in the structure of your baby's chromosomes, such as Down's syndrome, Patau's syndrome and Edwards' syndrome. The test can also identify hundreds of genetic disorders, including sickle-cell disease and cystic fibrosis. Amniocentesis doesn't detect every kind of abnormality, though. It can't tell you, for example, if your baby has a cleft lip and palate.

Should I have an amniocentesis?

There's no simple answer to whether it's right to have an amniocentesis.

Unfortunately, although it may give you the answers you want, the test does carry a risk of miscarriage. However, you'll only be offered an amniocentesis if there's a high chance that your baby has a chromosomal or genetic abnormality. The test won't be offered if you have a low risk of these. You will probably be offered an amniocentesis if:
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A screening test such as a blood test or nuchal translucency scan suggests your baby has a high risk of having chromosomal problems.

Your ultrasound scan shows a problem with your baby, such as a heart defect, which may signal a chromosomal abnormality.

You have one or more relatives with a genetic disorder.

You, or your baby's father, has a greater risk of having a child with an inheritable condition, such as sickle cell disease.

You have had a previous pregnancy affected by a genetic abnormality.

If you're offered an amniocentesis, you should be given all the information you need. You should also have the chance to talk about the pros and cons with a fetal specialist. If you're considering testing because of inherited genetic conditions you'll probably be offered chorionic villus sampling (CVS) instead. That's because CVS gives a much earlier diagnosis.

When will I have the test?

Amniocentesis is usually performed in the second trimester, from 15 weeks. Any earlier means there's less fluid around the baby, and removing it may cause a birth defect called talipes. Too early and there may not be enough cells in your baby's amniotic fluid to analyse. If you do want an earlier diagnosis, ask about CVS. It s very unusual to need an amniocentesis in the third trimester. You may be offered one if an abnormality is found during a later scan, or if you have too much amniotic fluid (polyhydramnios). Removing the excess amniotic fluid may make you more comfortable.

How is amniocentesis performed?

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You'll start by lying down on the examination couch. You can choose to have your belly numbed first with a local anaesthetic, but this isn't usually necessary.

Using ultrasound for guidance, your doctor will identify a pocket of amniotic fluid at a safe distance from your baby and your placenta.

Your doctor will then insert a long, thin, hollow needle through your tummy. This goes through your abdominal wall and into the sac of fluid around your baby. Just a small amount of amniotic fluid (about two tablespoons) will be taken. This fluid contains cells from your baby, chemicals and micro-organisms which can answer many questions about your baby's health.

If your blood group is RhD negative, you'll be offered an anti-D injection to prevent any problems if your baby's blood is RhD positive. Find out more in our article on rhesus status.

Your midwife will monitor you for a while to check whether you are having any uterine contractions. She'll also listen to your baby's heartbeat to make sure that all's well.

How long will the procedure take?

Guiding the needle to the right position using the ultrasound scan can take up to 20 minutes, but it's usually quicker. Once in the right place, inserting the needle and withdrawing the amniotic fluid only takes about five minutes. Once the needle is out, you may have some tummy cramps. In about one in every 12 procedures, not enough fluid is collected on the first try and the needle has to be re-inserted. If the second try is unsuccessful you may need to go back on another day.

What risks are associated with amniocentesis?

Knowing what the risks are will be top priority for women. There's no getting away from the fact that an amniocentesis is an invasive procedure. There is a small risk (less than one in 1,000 women) of serious infection or other complications.

Sadly, it's estimated that about one in 100 women experiences a miscarriage as a direct result of amniocentesis. It's worth finding out what the rate is for your hospital. Amniocentesis carried out in the third trimester has a much lower risk of complications and is not linked to premature labour. If you are HIV positive, there is an increased risk of the virus being transmitted to your baby during amniocentesis. For this reason, the procedure is best avoided, particularly in the third trimester. If you still want to go ahead then you'll need treatment with highly active antiretroviral therapy (HAART) during the procedure. This lowers the risk of transmission to your baby. Hepatitis B and hepatitis C are also viral infections. However, there is no evidence that transmission of the disease to your baby is increased depending on which trimester you are in. It's natural to worry about having an amniocentesis. If you are thinking about having one and feel anxious, talk through your concerns with your midwife. She'll give you a full account of the pros and cons, and tell you exactly what happens when the procedure is performed.

Will having an amniocentesis hurt?

You're more likely to feel discomfort than pain. You'll be advised to drink a lot of water before your amniocentesis to make sure the ultrasound picture is clear. This may mean it's a bit uncomfortable. You'll probably feel a sharp stinging feeling as the needle goes in and pressure as the needle is withdrawn. Though every woman experiences the procedure differently, most say it's more uncomfortable than painful. Taking your partner, friend or relative along to support you throughout the procedure can really help. It's best that you don't drive after an amniocentesis, so make sure you have someone to take you to and from the hospital. Any tummy pains you experience afterwards will probably be minor, but a few women have very painful cramps. Your midwife will advise you to rest for 24 hours to help your recovery.

Are there any after-effects?

You may leak amniotic fluid or lose a small amount of blood from your vagina after the procedure. Any leaking of amniotic fluid will probably stop within a few days, but try to rest in bed until it does. If you are at all worried, call your midwife or doctor.

Contact your midwife immediately if you have any of these symptoms after your amniocentesis, as they could mean you have an infection:
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uterine contractions or tenderness feeling shivery and cold feeling hot and feverish

Will I get the results straight away?

Unfortunately not, as the sample has to be sent away to a laboratory to examine your baby s cells. Usually, only one thing is looked for during the laboratory examination of your sample. This is called a polymerase chain reaction (PCR). The PCR counts the number of chromosomes. If there are two pairs of each, then common chromosomal abnormalities such as Down s syndrome can be ruled out. Your results should come through three working days after the test has taken place. Sometimes a more detailed test is needed. For this, your baby's cells must be cultured to allow their structure to be checked (karyotyped). It can take a while to grow the amount necessary to reach a diagnosis. You may not get the full results for up to three weeks after the procedure.

How will I be told the results?

Before leaving the hospital you'll be told how you'll get the results. The good news is that most babies are found to have normal chromosomes, and nothing more needs to be done. But if the amniocentesis does show a problem, you'll be able to discuss the result with a fetal medicine specialist. This will prepare you to make a decision about whether you want to go ahead with the pregnancy or not. Whatever your decision, be reassured that you'll be fully supported by the midwives and specialists involved. If you'd like to find out more about conditions diagnosed by amniocentesis, these charities offer great support to couples undergoing diagnostic tests

Amniocentesis
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Amniocentesis is a diagnostic test that may be recommended by your health care provider following an abnormal triple test result. Inherited or genetic concerns lead some parents to choose amniocentesis to determine if specific genetic disorders may be present in their baby.

How is amniocentesis performed?

An ultrasound is used as a guide to determine a safe location for the needle to enter the amniotic sac so the fluid may be safely removed. A sample of amniotic fluid is collected through the needle. The procedure takes about 45 minutes, although the collection of fluid takes less than five minutes. The amniotic fluid, which contains cells shed by the fetus, is sent to the laboratory for analysis. Results can take anywhere from a few days to a couple weeks to be returned.

When is amniocentesis performed?

Amniocentesis is usually performed between 14 and 20 weeks. Some medical facilities may perform amniocentesis as early as 11 weeks. Amniocentesis can be used later in the third trimester for a few reasons. Your healthcare provider may recommend the procedure if your membranes have ruptured prematurely to assess for uterine infections. Amniocentesis may also help determine the severity of fetal anemia in babies with Rh disease and assist your physician determine whether the fetus requires lifesaving blood transfusions. Amniocentesis is sometimes done to assess lung maturity. If so, this is done shortly before delivery.

What does the amniocentesis test look for?

Amniocentesis detects chromosome abnormalities, neural tube defects and genetic disorders. Down syndrome or Trisomy 21 is the most common chromosome abnormality. Genetic disorders include disorders like cystic fibrosis. The most common neural tube defect is spina bifida.

Amniocentesis is occasionally used late in pregnancy to assess whether the baby's lungs are mature enough for the baby to breathe on his own. Amniocentesis also provides access to DNA for paternity testing prior to delivery. DNA is collected from the potential father and is compared to DNA obtained from the baby during amniocentesis. The results are accurate (99%) for determining paternity.

What do amniocentesis results mean?

Amniocentesis is a diagnostic test that detects chromosome abnormalities, neural tube defects and genetic disorders with high levels of accuracy (98-99%). Although the probabilities of identification are high, this test does not measure the severity of these birth defects. Alphafetoprotein levels and advanced level ultrasounds may assist in assessing the severity.

What are the risks and side effects to the mother or baby?
Although amniocentesis is considered to be a safe procedure, it is recognized as an invasive diagnostic test that does pose potential risks. According to the Mayo Clinic, it is performed approximately 200,000 times a year. Miscarriage is the primary risk related to amniocentesis. The risk of miscarriage ranges from 1 in 400 to 1 in 200. In facilities where amniocentesis is performed regularly, the rates are closer to 1 in 400. Miscarriages can occur because of infection in the uterus, the water breaks or labor is induced prematurely. Although extremely rare, it is possible for the needle to come in contact with the baby. Great precautions are taken by using a sonogram to guide the needle away from the baby. The mother may experience a sharp pain when the needle enters the skin and again when it enters the uterus. Following completion of the procedure, the mother may experience other side effects that include:
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Cramping Leakage of fluid Minor irritation around the puncture site

Contact your healthcare provider if these complications continue or get worse.

What are the reasons to test or not test?

The reasons to test or not test vary from person to person and couple to couple. Performing the tests and confirming the diagnosis provides you with certain opportunities:
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Pursue potential interventions that may exist (i.e. fetal surgery for spina bifida) Begin planning for a child with special needs

y y y

Start addressing anticipated lifestyle changes Identify support groups and resources Make a decision about carrying the child to term

Some individuals or couples may elect not to pursue testing or additional testing for various reasons:
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They are comfortable with the results no matter what the outcome is Because of personal, moral, or religious reasons, making a decision about carrying the child to term is not an option Some parents choose not to allow any testing that poses any risk of harming the developing baby

It is important to discuss the risks and benefits of testing thoroughly with your healthcare provider. Your healthcare provider will help you evaluate if the benefits from the results could outweigh any risks from the procedure.

Amniocentesis Pregnancy Test

During an amniocentesis test a small sample of amniotic fluid which surrounds the fetus is removed and examined, usually to diagnose or rule out the possibility of birth defects and other complications. An amniocentesis is usually carried out around 15-18 weeks. Amniocentesis is the most common prenatal test used to diagnose chromosomal and genetic birth defects which lead to Down Syndrome. There is another test which is also used known as chorionic villus sampling (CVS), which can also be used to diagnose most, but not all, of the same birth defects as an amniocentesis. This test is usually carried out earlier than an amniocentesis, around 10-15 weeks. There are downsides to CVS, and possibly the main being a high risk of miscarriage.

Who will need an amniocentesis test?

Amniocentesis is not offered to all women who are pregnant because it does carry a small risk of miscarriage and so it is generally offered to pregnant women who may be showing signs that their baby may have some chromosomal or genetic birth defects, or to those who may be at a higher risk of these sorts of complications.

Reasons for needing an amniocentesis test

Maternal age. If you are going to be 35 or older at the time of delivery, your healthcare provider may offer you an amniocentesis test. There is a higher risk of Down Syndrome and chromosomal disorders in women who are pregnant over 35. A previous child or pregnancy with a birth defect. Your healthcare provider will certainly offer

this test to you if you have previously had a child which may have been born with birth defects or chromosomal disorders. If other members in your family have had a history of birth defects then you may also be offered this test. Suggestive screening test results. You may be offered to have an amniocentesis done if other tests are showing indications that there may be chromosomal disorders.
How is amniocentesis performed?

Amniocentesis is performed by inserting a thin, hollow needle into the uterus and removing some of the amniotic fluid that surrounds the baby. This is usually carried out by having the pregnant woman lie flat on her back on a table. Her belly is cleansed with an iodine solution. The healthcare provider would then use an ultrasound to help guide the doctor as the needle is inserted through the abdomen into the uterus and into the amniotic sac. About 2 tablespoons (30ml) of amniotic fluid is then removed. This usually only takes a few minutes to complete. Once the fluid has been withdrawn your healthcare provider will then use the ultrasound to monitor your babys heartbeat for a few minutes to ensure that the fetal heartbeat is normal and the baby is not under any distress. It is not a painful procedure, although about 2% of women do report experiencing some cramping when the needle enters the uterus. Some women also report some spotting and amniotic fluid leaking after having had the amniocentesis. Your health care provider will probably recommend that you avoid any physical activity for a few hours after the procedure is complete. Once the fluid is removed it is sent to a lab for analysis. Test results are usually available within 3 weeks.
Is amniocentesis safe?

Amniocentesis does have a slight risk of miscarriage, however the rate of miscarriage is 1 in 400. It also leaves a chance of uterine infection, but the chances of this are even less than a miscarriage, with the chances of 1 in 1000.

Definition
Ads by Google 5 Ways to Help Baby Sleep Tear-free tips to help your baby sleep through the night www.sleepthroughnight.com Ask a Doctor Online Now A Doctor Will Answer You Now! A Question is Answered Every 9 Sec.

Health.JustAnswer.com GRE revised practice test Hundreds of questions, vocabulary, simulation exams, all for $9.90 www.mygretutor.com Weight Gain & Hot Flushes Everything you need to know about hormone therapy & the side effects www.touchobgyn.com Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe. Tests performed on fetal cells found in the amniotic fluid can reveal the presence of many types of genetic disorders. Early diagnosis allows doctors and prospective parents to make important decisions about treatment and intervention prior to birth.

Purpose
Since the mid-1970s, amniocentesis has been used routinely to test for Down syndrome, by far the most common, nonhereditary, genetic birth defect, afflicting about one in every 1,000 babies. By 1997, approximately 800 different diagnostic tests were available, most of them for hereditary genetic disorders such as Tay-Sachs disease, sickle cell disease, hemophilia, muscular dystrophy, and cystic fibrosis. Amniocentesis, often called amnio, is recommended for women who will be older than 35 on their due-date. It is also recommended for women who have already borne children with birth defects, or when either of the parents has a family history of a birth defect for which a diagnostic test is available. Another reason for the procedure is to confirm indications of Down syndrome and certain other defects that may have shown up previously during routine maternal blood screening. The risk of bearing a child with a nonhereditary genetic defect such as Down syndrome is directly related to a woman's agethe older the woman, the greater the risk. Thirty-five is the recommended age to begin amnio testing because that is the age at which the risk of carrying a fetus with such a defect roughly equals the risk of miscarriage caused by the procedureabout one in 200. At age 25, the risk of giving birth to a child with this type of defect is about one in 1,400; by age 45 it increases to about one in 20. Nearly half of all pregnant women over 35 in the United States undergo amniocentesis and many younger women also decide to have the procedure. Notably, some 75% of all Down syndrome infants born in the United States each year are to women younger than 35.

One of the most common reasons for performing amniocentesis is an abnormal alpha-fetoprotein (AFP) test. Alpha-fetoprotein is a protein produced by the fetus and present in the mother's blood. A simple blood screening, usually conducted around the fifteenth week of pregnancy, can determine the AFP levels in the mother's blood. Levels that are too high or too low may signal possible fetal defects. Because this test has a high false-positive rate, another test such as amniocentesis is recommended whenever the AFP levels fall outside the normal range. Amniocentesis is generally performed during the sixteenth week of pregnancy, with results usually available within three weeks. It is possible to perform an amnio as early as the eleventh week but this is not usually recommended because there appears to be an increased risk of miscarriage when done at this time. The advantage of early amnio and speedy results lies in the extra time for decision making if a problem is detected. Potential treatment of the fetus can begin earlier. Important, also, is the fact that elective abortions are safer and less controversial the earlier they are performed.

Precautions
As an invasive surgical procedure, amniocentesis poses a real, although small, risk to the health of a fetus. Parents must weigh the potential value of the knowledge gained, or indeed the reassurance that all is well, against the small risk of miscarriage. The serious emotional and ethical dilemmas that adverse test results can bring must also be considered. The decision to undergo amnio is always a matter of personal choice.

Description
The word amniocentesis literally means "puncture of the amnion," the thin-walled sac of fluid in which a developing fetus is suspended during pregnancy. During the procedure, the obstetrician inserts a very fine needle through the woman's abdomen into the uterus and amniotic sac and withdraws approximately 1 oz (28.3 g) of amniotic fluid for testing. The relatively painless procedure is performed on an outpatient basis, sometimes using local anesthesia. The physician uses ultrasound images to guide needle placement and collect the sample, thereby minimizing the risk of fetal injury and the need for repeated needle insertions. Once the sample is collected, the woman can return home after a brief observation period. She may be instructed to rest for the first 24 hours and to avoid heavy lifting for two days. The sample of amniotic fluid is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material is then extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis. Depending on the specific tests

ordered, and the skill of the lab conducting them, all the results are available one to four weeks after the sample is taken. Cost of the procedure depends on the doctor, the lab, and the tests ordered. Most insurers provide coverage for women over 35, as a follow-up to positive maternal blood screening results, and when genetic disorders run in the family. An alternative to amnio, now in general use, is chorionic villus sampling (CVS), which can be performed as early as the eighth week of pregnancy. While this allows for the possibility of a first trimester abortion, if warranted, CVS is apparently also riskier and is more expensive. The most promising area of new research in prenatal testing involves expanding the scope and accuracy of maternal blood screening as this poses no risk to the fetus.

Preparation
It is important for a woman to fully understand the procedure and to feel confident in the obstetrician performing it. Evidence suggests that a physician's experience with the procedure reduces the chance of mishap. Almost all obstetricians are experienced in performing amniocentesis. The patient should feel free to ask questions and seek emotional support before, during, and after amniocentesis is performed.

Aftercare
Necessary aftercare falls into two categories, physical and emotional.

Physical aftercare
During and immediately following the sampling procedure, a woman may experience dizziness, nausea, a rapid heartbeat, and cramping. Once past these immediate hurdles, the physician will send the woman home with instructions to rest and to report any complications requiring immediate treatment, including:
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Vaginal bleeding. The appearance of blood could signal a problem. Premature labor. Unusual abdominal pain and/or cramping may indicate the onset of premature labor. Mild cramping for the first day or two following the procedure is normal. Signs of infection. Leaking of amniotic fluid or unusual vaginal discharge, and fever could signal the onset of infection.

Emotional aftercare
Once the procedure has been safely completed, the anxiety of waiting for the test results can prove to be the worst part of the process. A woman should seek and receive emotional support from family and friends, as well as from her obstetrician and family doctor. Professional counseling may also prove necessary, particularly if a fetal defect is detected.

Risks
Most of the risks and short-term side effects associated with amniocentesis relate to the sampling procedure. A successful amnio sampling results in no long-term side effects. Risks include:
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Maternal/fetal hemorrhaging. While spotting in pregnancy is fairly common, bleeding following amnio should always be investigated. Infection. Infection, although rare, can occur after amniocentesis. An unchecked infection can lead to severe complications. Fetal injury. A very slight risk of injury to the fetus resulting from contact with the amnio needle does exist. Miscarriage. The rate of miscarriage occurring during standard, second trimester amnio is approximately 0.5%. This compares to a miscarriage rate of 1% for CVS. Many fetuses with severe genetic defects miscarry naturally during the first trimester. The trauma of difficult family-planning decisions. The threat posed to parental and family mental health from the trauma accompanying an abnormal test result can not be underestimated.

Normal results
Negative results from an amnio analysis indicate that everything about the fetus appears normal and the pregnancy can continue without undue concern. A negative result for Down syndrome means that it is 99% certain that the disease does not exist. An overall "normal" result does not, however, guarantee that the pregnancy will come to term, or that the fetus does not suffer from some other defect. Laboratory tests are not 100% accurate at detecting targeted conditions, nor can every possible fetal condition be tested for.

Abnormal results
Positive results on an amnio analysis indicate the presence of a fetal defect, with an accuracy approaching 100%. With such a diagnosis, prospective parents face emotionally and ethically difficult choices regarding prenatal treatment options, the prospect of treating the defect at birth, and the option of elective abortion. At this point, the parents need expert medical advice and counseling.

Read more: Amniocentesis - procedure, test, blood, pain, complications, time, infection, pregnancy, cells, types, risk, children, nausea, rate, Definition, Purpose, Precautions, Description http://www.surgeryencyclopedia.com/A-Ce/Amniocentesis.html#ixzz1e7I0LYKu

amniocentesis

Amniocentesis

What is amniocentesis?

Amniocentesis is a prenatal diagnostic test performed at around 16 weeks of pregnancy. It is used to test for chromosomal abnormalities such as Down syndrome. It involves passing a needle through the skin of the mother, through the wall of the uterus (womb) and taking a small sample (around 16mls) of the fluid surrounding the developing baby. The needle does not touch the baby or the placenta. The cells in the fluid can be used to investigate the baby's chromosomes; which is why it is possible to find out from this investigation if the baby has Down syndrome, or any of the other chromosome disorders. The test can also determine the baby s sex.

Who is offered amniocentesis?

Women who are 37 years and over at the estimated time of delivery. This is because as the age of the woman increases the chance of her having a baby with a chromosomal abnormality also increases. Women who have had a prenatal screening test (such as first trimester screening, maternal serum screening or ultrasound) that has shown an increased risk for birth defect. Women who have already had a child with a problem such as Down syndrome. Women who are known to have a pregnancy at risk of an hereditary condition that might be passed on to their baby.

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What will happen on the day of the test?

You will have an ultrasound scan to check that there is only one baby and that the pregnancy appears normal. The scan will also confirm the age of the baby and position of the placenta. (For more information about ultrasound see the ultrasound fact sheet). The skin on your abdomen will be cleaned and a thin needle inserted into your uterus. The doctor will use the ultrasound screen to guide the needle. It only takes about 30-45 seconds to draw up the 16mls of fluid required into the syringe. After the needle is removed and the baby is checked again, you will be able to leave the room. You will need to sit quietly for 30 minutes or so and then you can go home. Almost without exception women tell us that they experience far less discomfort than they expect and that the discomfort is usually very minor. You will be quite capable of driving yourself home after the test, but if it is possible, it would be good to have someone accompany you and drive you home afterwards. We normally recommend that you take it quietly for the rest of the day and possibly the next day as well although there is no reason to go to bed.

What complications can occur?

The risk of miscarriage after an amniocentesis is not yet certain. Our own findings (at the Women s) show that the miscarriage rate amongst women who have had an amniocentesis is no higher than those who have not had the test done (an estimated to be 1 in 200.) Apart from this very slight risk of a miscarriage the amniocentesis test does not appear to be associated with any other complications to the baby or to the pregnancy. Apart from this very slight risk of a miscarriage the amniocentesis test does not appear to be associated with any other complications to the baby or to the pregnancy. Rarely, the test may fail either because no specimen is obtained or because the laboratory cannot produce a result. In this instance you may be offered a repeat procedure.

What should I look for after the test?

After the test, it is very rare to have any problems at all. Occasionally there may be some mild discomfort due to a little bruising under the skin. If there is any loss of blood or water from the vagina or any other pains after the amniocentesis you should contact either the Emergency Department on (03) 9344 2301 or your own doctor.

How long will the results take?

The chromosome test takes two weeks because of the requirement to grow the cells in the laboratory and for the test to be analysed. The laboratory will send the results directly to your doctor.

Summary

Amniocentesis has very few complications. However, it is only performed on patients in special situations, the most common being because the mother is aged 37 years or over. The test will check for Down syndrome and other chromosome abnormalities. It is important to realise that while the combination of the ultrasound scan and amniocentesis goes along way to ensuring the baby is normal, it does not guarantee that every abnormality has been excluded.

Amniocentesis
By Mayo Clinic staff

Original Article: http://www.mayoclinic.com/health/amniocentesis/MY00155

Definition
Amniocentesis

Amniocentesis is a procedure in which amniotic fluid is removed from the uterus for testing or treatment. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy. This fluid contains fetal cells and various chemicals produced by the baby. With genetic amniocentesis, a sample of amniotic fluid is tested for certain abnormalities such as Down syndrome and spina bifida. With maturity amniocentesis, a sample of amniotic fluid is tested to determine whether the baby's lungs are mature enough for birth. Occasionally, amniocentesis is used to evaluate a baby for infection or other illness. Rarely, amniocentesis is used to decrease the volume of amniotic fluid. Although amniocentesis can provide valuable information about your baby's health, the decision to pursue invasive diagnostic testing is serious. It's important to understand the risks of amniocentesis and be prepared for the results.

Why it's done

Amniocentesis is done for different reasons at different stages of pregnancy. Genetic amniocentesis Genetic amniocentesis can provide information about your baby's genetic makeup. Generally, genetic amniocentesis is offered when the test results may have a significant impact on the management of the pregnancy or your desire to continue the pregnancy. Typically, the value of this information can only be assessed by you and your partner. Genetic amniocentesis is usually done after week 15 of pregnancy, when the two layers of fetal membranes have fused enough that a sample of amniotic fluid can be safely withdrawn. Rarely, genetic amniocentesis may be done as early as week 11 of pregnancy. You may consider genetic amniocentesis if:
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You had abnormal results from a prenatal screening test. If the results of a screening test such as the first trimester screen are positive or worrisome, you may opt for amniocentesis to confirm or rule out a diagnosis. You had a chromosomal abnormality or a neural tube defect in a previous pregnancy. If a previous pregnancy was affected by Down syndrome or a neural tube defect a serious abnormality of the brain or spinal cord this pregnancy is at higher risk, too. You're age 35 or older. Babies born to women age 35 and older have a higher risk of chromosomal abnormalities, such as Down syndrome. You have a family history of a specific genetic disorder, or you or your partner is a known carrier of a genetic disorder. In addition to identifying Down syndrome and spina bifida, amniocentesis can be used to diagnose many other conditions such as cystic fibrosis. This requires specialized testing of the amniotic fluid, however, so there must be a reason to test for these conditions.

Maturity amniocentesis Maturity amniocentesis can determine whether a baby's lungs are ready for birth. This type of

amniocentesis is done only if early delivery either through induction or C-section is being considered to prevent pregnancy complications for the mother. It's usually done between 32 and 39 weeks of pregnancy. Earlier than 32 weeks, a baby's lungs are unlikely to be fully developed. Other reasons for amniocentesis Occasionally amniocentesis is used to:
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Evaluate a baby for infection or other illness Decrease the volume of amniotic fluid Diagnose a uterine infection Evaluate the severity of anemia in babies who have Rh disease an uncommon condition in which a mother's immune system produces antibodies against a specific protein on the surface of the baby's blood cells

Risks
Amniocentesis carries various risks, including:
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Miscarriage. Second-trimester amniocentesis carries a slight risk of miscarriage between 1 in 300 and 1 in 500. Research suggests that the risk of miscarriage is higher for amniocentesis done before 15 weeks of pregnancy. Cramping and vaginal bleeding. Cramping is possible after amniocentesis. Some women experience a small amount of vaginal bleeding. Needle injury. During amniocentesis the baby may move an arm or leg into the path of the needle. Serious needle injuries are rare. Leaking amniotic fluid. Rarely, amniotic fluid leaks through the vagina after amniocentesis. If the leak seals, the pregnancy may proceed normally. Sometimes, however, the leakage leads to orthopedic problems for the baby. Rh sensitization. Rarely, amniocentesis may cause the baby's blood cells to enter the mother's bloodstream. If you have Rh negative blood, you'll be given a drug called Rh immunoglobulin after amniocentesis to prevent you from producing antibodies against your baby's blood cells. Infection. Rarely, amniocentesis may trigger a uterine infection. Infection transmission. If you have an infection such as hepatitis C, toxoplasmosis or human immunodeficiency virus amniocentesis may cause transfer of the infection to your baby.

Remember, genetic amniocentesis is typically offered when the test results may have a significant impact on management of the pregnancy. Ultimately, the decision to have genetic amniocentesis is up to you. Your health care provider or genetic counselor can help you weigh all the factors in the decision. Maturity amniocentesis is often suggested when early delivery would be best for the mother. With minimal risks, maturity amniocentesis can offer assurance that the baby is ready for birth.

How you prepare

Before amniocentesis, you can eat and drink as usual. Your bladder must be full before the procedure, however, so drink plenty of fluids before your appointment. Your health care provider may ask you to sign a consent form before the procedure begins. You may want to ask someone to accompany you to the appointment for emotional support or to drive you home afterward.

What you can expect

Amniocentesis

Amniocentesis is usually done in an outpatient facility or the health care provider's office. During the procedure First, your health care provider will use ultrasound to determine the baby's exact location in your uterus. You'll lie on your back on an exam table and expose your abdomen. Your health care provider will apply a special gel to your abdomen and then use a small device known as an ultrasound transducer to show your baby's position on a monitor. Next, your health care provider will clean your abdomen with an antiseptic. Generally, anesthetic isn't used. Most women report only mild discomfort during the procedure. Guided by ultrasound, your health care provider will insert a thin, hollow needle through your abdominal wall and into the uterus. A small amount of amniotic fluid will be withdrawn into a syringe, and the needle will be removed. The specific amount of amniotic fluid withdrawn depends on the number of weeks the pregnancy has progressed. You'll need to lie still while the needle is inserted and the amniotic fluid is withdrawn. You may notice a stinging sensation when the needle enters your skin, and you may feel cramping when the needle enters your uterus. The entire procedure usually takes about an hour, although most of that time is devoted to the ultrasound exam. In most cases, the fluid sample is obtained in less than two minutes. The small amount of amniotic fluid that's removed will be replaced naturally. After the procedure After the amniocentesis, your health care provider may use ultrasound to monitor your baby's heart rate. You may experience cramping or a small amount of vaginal bleeding immediately after the amniocentesis. Your health care provider may suggest resting after the procedure. You may want to ask someone to drive you home. You'll likely be able to resume normal activities the next day. Meanwhile, the sample of amniotic fluid will be analyzed in a lab. For genetic amniocentesis, some results may be available within a few days. Other results may take one to two weeks. Results of maturity amniocentesis are often available within hours.

If you develop a fever after amniocentesis or if vaginal bleeding, loss of vaginal fluid or uterine cramping lasts more than few hours, contact your health care provider.

Results
Your health care provider or a genetic counselor will help you understand your amniocentesis results. For genetic amniocentesis, test results can reliably rule out or diagnose various genetic disorders, such as Down syndrome. Follow-up testing isn't usually necessary. Amniocentesis can't identify all birth defects, however. If amniocentesis indicates that your baby has a chromosomal problem or a hereditary disorder that can't be treated, you may be faced with wrenching decisions such as whether to continue the pregnancy. Seek support from your health care team and your loved ones during this difficult time. For maturity amniocentesis, test results can reliably indicate a baby's lung maturity. If you need to deliver the baby early, this information offers reassurance that your baby is ready for birth. Amniocentesis is a procedure which involves the withdrawal of a small amount of amniotic fluid for the purpose of genetic testing. Cells in the fluid can be analyzed to determine the babys chromosomes and for the detection of open neural tube defects. The risk of having a baby with certain chromosomal abnormalities increases, as a woman gets older. The most common of these disorders is Down syndrome. There is also an additional risk of having a child with other types of chromosomal abnormalities. Amniocentesis can test for the majority of chromosome problems, such as Down syndrome, associated with a womens age. Some of these abnormalities are severe in nature, some are mild, and relatively few are unpredictable in their effects on human development. A small part of the sample obtained is also tested for open neural tube defects, such as spina bifida and anencephaly. The risk for neural tube defects is approximately 1 in 1000 and is not related to maternal age. In order to understand these chromosome problems, it may be helpful to briefly review chromosomes and their function. Chromosomes are the structures in our cells that carry our genetic information or genes. Normally, there are 46 chromosomes in our cells. A child inherits half (23) of their chromosomes from the mother, in the egg, and the other half (23) of their chromosomes from the father, in the sperm. Due to their importance, an error in the number or structure of a chromosome typically leads to serious problems or birth defects. One of the most common chromosome problems is Down syndrome, which occurs when an additional or extra chromosome is present in the cells of the baby. This can be detected by amniocentesis. Each chromosome carries many genes. Genes have many functions including control of our growth and development, as well as the determination of many traits. Many disorders caused by an error in a single gene can also be detected by amniocentesis for families at risk for these conditions.

Procedure:
Amniocentesis is typically performed after 15 weeks of pregnancy, counting from the first day of the last menstrual period, or as determine by ultrasound examination. During the procedure, a small amount of amniotic fluid is withdrawn from the sac surrounding the baby. An ultrasound is performed before and during the amniocentesis. You will lie down with your abdomen exposed for the procedure. The procedure is performed by inserting a slender needle through the abdomen into the uterus. Amniotic fluid will be removed by applying gentle suction to a syringe attached to the needle. The procedure is typically performed in a minute or two. Including the ultrasound examination prior to the procedure, you can expect to spend approximately 20 to 30 minutes in the procedure room. During your appointment, we will discuss with you the restrictions following the procedure and any follow up recommendations.

Results:
The final results of the chromosome analysis are typically available in approximately 10 to 14 days, although you have the option of obtaining preliminary results in 2 to 3 business days. In order to obtain the final results, the chromosomes within the babys cells are studied under a microscope. The number and general shape of the chromosomes are checked. An occasional error has been reported, but the accuracy of amniocentesis for chromosome analysis is greater than 99%. Also, additional testing for specific inherited genetic disorders can be performed on the cells, if necessary. Rarely, we obtain results which will not allow us to establish with certainty whether or not the fetal chromosomes are normal. These situations are resolved on an individual basis and may require further testing such as examination of the parents chromosomes. Very rarely, an insufficient amount of amniotic fluid is obtained when the amniocentesis is attempted. In that event, another amniocentesis may be recommended. For families at risk for a specific genetic disorder, the timing of the test results will vary depending upon the laboratory used. Your genetic counselor will discuss the turn-around-time for the testing, at the time of your appointment.

Risks:
Although amniocentesis is a fairly safe procedure, there is some risk involved. Side effects that may occur include the following:
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Cramping Bleeding Infection Leakage of amniotic fluid Miscarriage

Unfortunately, all pregnancies have a risk for miscarriage, whether a test was performed or not. In the second trimester (when an amniocentesis is typically performed), the normal risk for

miscarriage is between 2-3%. The risk for miscarriage is increased slightly with amniocentesis. In our experience, the risk of amniocentesis-related miscarriage is 1 in 250 to 1 in 300. There is a very small risk of infection in your uterus. We will be taking precautions against this, but if an infection should occur, it may require treatment. With prenatal diagnosis, we attempt to rule out certain diseases in the baby. We are not able to state that the baby is healthy in every way. Therefore, if the amniocentesis test results are normal, it gives a high assurance that the baby does not have a chromosomal disorder. However, it does not guarantee a healthy baby. Approximately 3-5% of babies are born with a birth defect or inherited disease, such as deafness, blindness, cleft lip or palate to name a few. Many of these birth defects are undetectable via prenatal diagnosis or ultrasound.
Amniocentesis

Definition
Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe. Tests performed on fetal cells found in the sample can reveal the presence of many types of genetic disorders, thus allowing doctors and prospective parents to make important decisions about early treatment and intervention.

Purpose
Since the mid-1970s, amniocentesis has been used routinely to test for Down syndrome, by far the most common, nonhereditary, genetic birth defect, afflicting about one in every 1,000 babies. By 1997, approximately 800 different diagnostic tests were available, most of them for hereditary genetic disorders such as Tay-Sachs disease, sickle cell anemia, hemophilia, muscular dystrophy and cystic fibrosis. Amniocentesis, often called amnio, is recommended for women who will be older than 35 on their duedate. It is also recommended for women who have already borne children with birth defects, or when either of the parents has a family history of a birth defect for which a diagnostic test is available. Another reason for the procedure is to confirm indications of Down syndrome and certain other defects which may have shown up previously during routine maternal blood screening. The risk of bearing a child with a nonhereditary genetic defect such as Down syndrome is directly related to a woman's age the older the woman, the greater the risk. Thirty-five is the recommended age to begin amnio testing because that is the age at which the risk of carrying a fetus with such a defect roughly equals the risk of miscarriage caused by the procedure-about one in 200. At age 25, the risk of giving birth to a child with this type of defect is about one in 1,400; by age 45 it increases to about one in 20. Nearly half of all pregnant women over 35 in the United States undergo amniocentesis and many

younger women also decide to have the procedure. Notably, some 75% of all Down syndrome infants born in the United States each year are to women younger than 35. One of the most common reasons for performing amniocentesis is an abnormal alpha-fetoprotein (AFP) test. Alpha-fetoprotein is a protein produced by the fetus and present in the mother's blood. A simple blood screening, usually conducted around the 15th week of pregnancy, can determine the AFP levels in the mother's blood. Levels that are too high or too low may signal possible fetal defects. Because this test has a high false-positive rate, another test such as amnio is recommended whenever the AFP levels fall outside the normal range. Amniocentesis is generally performed during the 16th week of pregnancy, with results usually available within three weeks. It is possible to perform an amnio as early as the 11th week but this is not usually recommended because there appears to be an increased risk of miscarriage when done at this time. The advantage of early amnio and speedy results lies in the extra time for decision making if a problem is detected. Potential treatment of the fetus can begin earlier. Important, also, is the fact that elective abortions are safer and less controversial the earlier they are performed.

Precautions
As an invasive surgical procedure, amnio poses a real, although small, risk to the health of a fetus. Parents must weigh the potential value of the knowledge gained, or indeed the reassurance that all is well, against the small risk of damaging what is in all probability a normal fetus. The serious emotional and ethical dilemmas that adverse test results can bring must also be considered. The decision to undergo amnio is always a matter of personal choice.

Key terms
Alpha-fetoprotein (AFP) A protein normally produced by the liver of a fetus and detectable in maternal blood samples. AFP screening measures the amount of alpha-fetoprotein in the blood. Levels outside the norm may indicate fetal defects. Anencephaly A hereditary defect resulting in the partial to complete absence of a brain and spinal cord. It is fatal. Chorionic villus sampling (CVS) A procedure similar to amniocentesis, except that cells are taken from the chorionic membrane for testing. These cells, called chorionic villus cells, eventually become the placenta. The samples are collected either through the abdomen, as in amnio, or through the vagina. CVS can be done earlier in the pregnancy than amnio, but carries a somewhat higher risk. Chromosome Chromosomes are the strands of genetic material in a cell that occur in nearly identical pairs. Normal human cells contain 23 chromosome pairs-one in each pair inherited from the mother, and one from the father. Every human cell contains the exact same set of chromosomes.

Down syndrome The most prevalent of a class of genetic defects known as trisomies, in which cells contain three copies of certain chromosomes rather than the usual two. Down syndrome, or trisomy 21, usually results from three copies of chromosome 21. Genetic The term refers to genes, the basic units of biological heredity, which are contained on the chromosomes, and contain chemical instructions which direct the development and functioning of an individual. Hereditary Something which is inherited-passed down from parents to offspring. In biology and medicine, the word pertains to inherited genetic characteristics. Maternal blood screening Maternal blood screening is normally done early in pregnancy to test for a variety of conditions. Abnormal amounts of certain proteins in a pregnant woman's blood raise the probability of fetal defects. Amniocentesis is recommended if such a probability occurs. Tay-Sachs disease An inherited disease prevalent among the Ashkenazi Jewish population of the United States. Infants with the disease are unable to process a certain type of fat which accumulates in nerve and brain cells, causing mental and physical retardation, and death by age four. Ultrasound A technique which uses high-frequency sound waves to create a visual image (a sonogram) of soft tissues. The technique is routinely used in prenatal care and diagnosis.

Description
The word amniocentesis literally means "puncture of the amnion," the thin-walled sac of fluid in which a developing fetus is suspended during pregnancy. During the sampling procedure, the obstetrician inserts a very fine needle through the woman's abdomen into the uterus and amniotic sac and withdraws approximately one ounce of amniotic fluid for testing. The relatively painless procedure is performed on an outpatient basis, sometimes using local anesthesia. The physician uses ultrasound images to guide needle placement and collect the sample, thereby minimizing the risk of fetal injury and the need for repeated needle insertions. Once the sample is collected, the woman can return home after a brief observation period. She may be instructed to rest for the first 24 hours and to avoid heavy lifting for two days. The sample of amniotic fluid is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material is then extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis. Depending on the specific tests ordered, and the skill of the lab conducting them, all the results are available between one and four weeks after the sample is taken. Cost of the procedure depends on the doctor, the lab, and the tests ordered. Most insurers provide coverage for women over 35, as a follow-up to positive maternal blood screening results, and when genetic disorders run in the family.

An alternative to amnio, now in general use, is chorionic villus sampling, or CVS, which can be performed as early as the eighth week of pregnancy. While this allows for the possibility of a first trimester abortion, if warranted, CVS is apparently also riskier and is more expensive. The most promising area of new research in prenatal testing involves expanding the scope and accuracy of maternal blood screening as this poses no risk to the fetus.

Preparation
It is important for a woman to fully understand the procedure and to feel confident in the obstetrician performing it. Evidence suggests that a physician's experience with the procedure reduces the chance of mishap. Almost all obstetricians are experienced in performing amniocentesis. The patient should feel free to ask questions and seek emotional support before, during and after the amnio is performed.

Aftercare
Necessary aftercare falls into two categories, physical and emotional. Physical aftercare During and immediately following the sampling procedure, a woman may experience dizziness, nausea, a rapid heartbeat, and cramping. Once past these immediate hurdles, the physician will send the woman home with instructions to rest and to report any complications requiring immediate treatment, including:
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vaginal bleeding. The appearance of blood could signal a problem. premature labor. Unusual abdominal pain and/or cramping may indicate the onset of premature labor. Mild cramping for the first day or two following the procedure is normal. signs of infection. Leaking of amniotic fluid or unusual vaginal discharge, and fever could signal the onset of infection.

Emotional aftercare Once the procedure has been safely completed, the anxiety of waiting for the test results can prove to be the worst part of the process. A woman should seek and receive emotional support from family and friends, as well as from her obstetrician and family doctor. Professional counseling may also prove necessary, particularly if a fetal defect is discovered.

Risks
Most of the risks and short-term side effects associated with amniocentesis relate to the sampling procedure and have been discussed above. A successful amnio sampling results in no long-term side effects. Risks include:
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maternal/fetal hemorrhaging. While spotting in pregnancy is fairly common, bleeding following amnio should always be investigated.

y y y

infection. Infection, although rare, can occur after amniocentesis. An unchecked infection can lead to severe complications. fetal injury. A very slight risk of injury to the fetus resulting from contact with the amnio needle does exist. miscarriage. The rate of miscarriage occurring during standard, second trimester amnio appears to be approximately 0.5%. This compares to a miscarriage rate of 1% for CVS. Many fetuses with severe genetic defects miscarry naturally during the first trimester. the trauma of difficult family-planning decisions. The threat posed to parental and family mental health from the trauma accompanying an abnormal test result can not be underestimated.

Normal results
Negative results from an amnio analysis indicate that everything about the fetus appears normal and the pregnancy can continue without undue concern. A negative result for Down syndrome means that it is 99% certain that the disease does not exist. An overall "normal" result does not, however, guarantee that the pregnancy will come to term, or that the fetus does not suffer from some other defect. Laboratory tests are not 100% accurate at detecting targeted conditions, nor can every possible fetal condition be tested for.

Abnormal results
Positive results on an amnio analysis indicate the presence of the fetal defect being tested for, with an accuracy approaching 100%. Prospective parents are then faced with emotionally and ethically difficult choices regarding treatment options, the prospect of dealing with a severely affected newborn, and the option of elective abortion. At this point, the parents need expert medical advice and counseling.

Amniocentesis
Amniocentesis

Amniocentesis is a procedure used to draw a sample of the amniotic fluid that surrounds and cushions the baby in the womb. This fluid contains cells that have been sloughed off of the developing fetus. Amniocentesis is most often used to detect genetic abnormalities, though the results can also reveal the baby's sex, gauge lung maturity (if done close to term), detect amniotic fluid infections, or spot other pregnancy complications.
What Is It?

Amniocentesis can diagnose or rule out many possible birth defects. Most often, it's used to spot common genetic defects (such as Down syndrome) and neural tube defects (such as spina bifida and hydrocephalus). Amniocentesis is usually performed after 15 weeks gestation. This is when the chorionic and amnionic membranes have fused together.

A similar test, chorionic villus sampling (CVS), is sometimes used to detect many of the same genetic abnormalities. However, CVS does not detect neural tube defects. Instead of sloughed fetal cells, CVS examines placental cells, which are genetically identical to the fetus. Since CVS can be done earlier in the pregnancy, and since results are available within 48 hours, it may be preferable for women who need quick answers about their baby's health. CVS carries a higher risk of miscarriage than amniocentesis, and may increase the risk of limb deformities.
What Are the Risks?

About one woman in every 200-400 women miscarry as a result of amniocentesis, though recent studies suggest that the rate of miscarriage may be as low as one in 1,000 (0.1%). Amniocentesis done during the first trimester carries a greater risk for miscarriage than amniocentesis done after the 15th week. Less than one woman in every 1,000 women develop a uterine infection after amniocentesis.
How Can I Prepare?

Amniocentesis is used strictly to diagnose problems during pregnancy -- it does not treat these problems. So before you have the test done, think about how you might use the information it provides. Some birth defects are incompatible with life, others are easily correctable, and still others fall somewhere in between. Would you terminate your pregnancy if your baby had a severe defect? Will you know the results (which may take up to two weeks) in time to consider termination? Weigh the benefits and risks. If you wouldn't terminate your pregnancy under any condition, for instance, the test may cause more worry than it's worth. On the other hand, knowing your baby has a problem may allow you to prepare better for her birth. One study of mothers who continued pregnancies after learning their babies had Down syndrome showed they were much better able to cope than women who discovered at birth that their babies were affected.

If you decide to proceed with the amniocentesis, your medical team will give you detailed instructions on how to prepare for the actual procedure.
What Will Happen?

First, an ultrasound is done to pinpoint the exact position of the fetus and placenta. This allows your doctor to determine the safest place to insert the needle. Guided by ultrasound, the doctor carefully inserts a hollow needle through your abdomen, into the amniotic sac, and draws out about four teaspoons of amniotic fluid. Your baby quickly replaces any fluid that is lost. When the procedure is done, a quick ultrasound is done to make sure the fetal heartbeat is still normal.

If a local anesthetic is used, you may feel a stinging sensation for a few seconds. You may also feel slight pain or cramping when the doctor inserts the needle and pressure in your lower abdomen when the fluid is withdrawn. Some women report no pain or discomfort, but most physicians recommend several hours of rest after the procedure. After they are removed, the fetal cells are grown in a laboratory and then analyzed. Your doctor will get the complete results within 2 weeks. In about 95% of cases, no abnormalities are found. Lab technicians will also measure the level of alpha-fetoprotein in the amniotic fluid. If it's high, the baby could have a neural tube defect. If it's low, Down syndrome could be to blame. Since alpha-fetoprotein does not need to be cultured in the lab, these results are available right away -although a potential problem must be confirmed by subsequent genetic analysis.
Who Should Have Amniocentesis?

Amniocentesis is typically offered only to women at increased risk for bearing a child with birth defects. This includes women who:
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Will be 35 or older when they give birth. Have a screening test or exam result that indicates a possible birth defect or other problem. Have had birth defects in previous pregnancies. Have a family history of genetic disorders.

If birth defects run in your family, seek genetic counseling before you have amniocentesis - and if possible, before you get pregnant. You and your partner can have certain blood tests to determine your chances of having a baby with a birth defect.

Frequently Asked Questions

Q: Do normal amniocentesis results mean I will have a healthy baby? A: A normal amniocentesis shows that your babys genetic map is normal. But even with a normal pattern of chromosomes, your baby can have other types of birth defects. About 3 of every hundred babies will have some sort of birth defect. Q: Can doctors treat any defects diagnosed by amniocentesis? A: Scientists have been working on possible cures and treatments for a variety of fetal conditions. Many conditions can be treated after birth, and a few can be corrected while the baby is still in the womb, although this type of surgery is still in the experimental stage. Knowing about a condition ahead of time allows parents and physicians to prepare for the child's special needs, even if his condition can't be treated. Discovering your fetus has a genetic problem such as Down syndrome gives you the option to have an abortion. Q: I have a relative with Down syndrome. Should I have an amniocentesis? A: Down syndrome occurs when the cells of a fertilized egg divide abnormally, creating an extra 21st chromosome. Maternal age -- not family history -- seems to be the most important risk factor. A 20-year-old mother, for example, has a 1/2000 chance of delivering a baby with Down syndrome. For a 45-year-old, the odds leap to 1/40. Very rarely, Down syndrome is inherited when a father or mother carries an egg or sperm with a defective 21st chromosome. If you think you have an increased risk, discuss the pros and cons of genetic testing with your doctor or a genetic counselor. Q: Are there alternatives to amniocentesis? A: There are a number of screening tests that can help assess your risk of having a baby with a chromosomal problem. These tests are routinely offered to women of all ages. Such tests include first trimester ultrasound to measure the thickness of the babys neck (nuchal translucency), along with maternal serum levels of PAP-A (pregnancy associated protein-A), and maternal serum screenings (including the quadruple screen test, which measures four chemical substances in the mother's blood), and second trimester anatomy ultrasound. These tests are non-invasive, carry no risk of miscarriage or other problems, and can correctly spot 65 - 90% of chromosomal problems. However, none of these tests can confirm that your baby has a problem. To make the diagnosis for sure, doctors need to collect cells from your baby by amniocentesis or CVS.

How does an amniocentesis differ from chorionic villi sampling (CVS)?

Both amniocentesis and chorionic villi sampling are diagnostic prenatal tests and you only need to have one of these procedures during a pregnancy. While both tests give you information about the babys chromosomes, there are some important differences between the procedures. An amniocentesis differs from a chorionic villi sampling (CVS) in two ways: 1. Timing - An amniocentesis is done later in a pregnancy, during the second trimester. It is usually done between 15 to 20 weeks of pregnancy. A CVS test, on the other hand, is done in the first trimester, between 10 to 12 weeks of pregnancy. 2. Results obtained - Both amniocentesis and chorionic villi sampling will give you a picture of the fetal chromosomes which will diagnose Down syndrome with greater that 99% accuracy. However, with an amniocentesis, a substance called alpha fetoprotein (AFP) is also measured. The amount of AFP in the amniotic fluid can help determine if a fetus has an neural tub defects such as spina bifida or anencephaly.

Risk of Miscarriage
For many years, amniocentesis was thought to have a lower risk of miscarriage compared to CVS. However, it is now known that the risk of miscarriage due to these procedures is similarly low - about 1/300 to 1/500, when performed by someone experienced with both procedures.

What are the advantages of amniocentesis?

The major advantages of an amniocentesis is that it has a lower risk of miscarriage and gives you more information. In addition to learning about the fetal chromosomes, the test also looks to see if the fetus has a neural tube defect.

What are the disadvantages?

The disadvantages of an amniocentesis is that the test is done in the later in pregnancy than a chorionic villi sampling. Also, there is a small but real chance of miscarriage. Some people feel that if they were to get abnormal results in the second trimester of pregnancy that it would be much harder to make a decision about continuing or not continuing a pregnancy. Others feel that if they would not act on the information or results that they would get from an amniocentesis, there is no reason to have a procedure that includes a small risk of miscarriage. It can sometimes be helpful to talk to a genetic counselor about your prenatal screening options.

Bottom Line
An amniocentesis test is the most common for prenatal diagnostic testing done today. It has the lowest risk of miscarriage and give you the most complete set of results. However, if the results are abnormal, there is not cure for Down syndrome or the other birth defects detected by this procedure. The only options at this point in pregnancy are to terminate or end the pregnancy, or continue to pregnancy knowing the baby has a diagnosis of Down syndrome. If your results are

abnormal, you should talk with your doctor or with a genetics specialist about what your results mean and what your options are at this point in your pregnancy.