Every parent-to-be hopes for a healthy baby, but it can be hard not to worry: What if the baby has a serious or untreatable health problem? What would I do? Would it be my fault?
Concerns like these are completely natural. Fortunately, though, a wide array of tests for pregnant women can help to reassure them and keep them informed throughout their pregnancies.
Prenatal tests can help identify — and sometimes treat — health problems that could endanger both you and your unborn child. However, they do have limitations. As an expectant parent, it's important to educate yourself about these tests and to think about what you would do if a health problem is detected in either you or your baby.
Why Are Prenatal Tests Performed?
Prenatal tests can identify several different things:
treatable health problems in the mother that can affect the baby's health
characteristics of the baby, including size, sex, age, and placement in the uterus
the chance that a baby has certain congenital, genetic, or chromosomal problems
certain types of fetal abnormalities, including heart problems
The last two items on this list may seem the same, but there's a key difference. Some prenatal tests are screening tests and only reveal the possibility of a problem. Other prenatal tests are diagnostic, which means they can determine — with a fair degree of certainty — whether a fetus has a specific problem. In the interest of making the more specific determination, the screening test may be followed by a diagnostic test.
Prenatal testing is further complicated by the fact that approximately 250 birth defects can be diagnosed in a fetus — many more than can be treated or cured.
What Do Prenatal Tests Find?
Among other things, routine prenatal tests can determine key things about the mother's health, including:
her blood type
whether she has gestational diabetes
her immunity to certain diseases
whether she has a sexually transmitted disease (STD) or cervical cancer
All of these conditions can affect the health of the fetus.
Prenatal tests also can determine things about the fetus' health, including whether it's one of the 2% to 3% of babies in the United States that the American College of Obstetricians and Gynecologists (ACOG) says have major congenital birth defects.
Categories of defects screened by prenatal tests include:
Dominant Gene Disorders
Recessive Gene Disorders
X-Linked Disorders
Chromosomal Disorders
Multifactorial Disorders
Dominant Gene Disorders
In dominant gene disorders, there's a 50–50 chance a child will inherit the gene from the affected parent and have the disorder. Dominant gene disorders include:
Achondroplasia, a rare abnormality of the skeleton that causes a form of dwarfism
Huntingdon disease, a disease of the nervous system that causes a combination of mental deterioration and a movement disorder affecting people in their 30s and 40s
Back to list
Recessive Gene Disorders
Because there are so many genes in each cell, everyone carries some abnormal genes, but most people don't have a defect because the normal gene overrules the abnormal recessive one. But if a fetus has a pair of abnormal recessive genes (one from each parent), the child will have the disorder. It's more likely for this to happen in children born to certain ethnic groups. Recessive gene disorders include:
Cystic fibrosis, a disease most common among people of northern European descent that is life threatening and causes severe lung damage and nutritional deficiencies
Sickle cell disease, a disease most common among people of African descent in which red blood cells form a "sickle" shape (rather than the typical donut shape), which can get caught in blood vessels and cause damage to organs and tissues
Tay-Sachs disease, a disorder most common among people of European (Ashkenazi) Jewish descent that causes mental retardation, blindness, seizures, and death
Beta thalassemia, a disorder most common among people of Mediterranean descent that causes anemia
Back to list
X-Linked Disorders
These disorders are determined by genes on the X chromosome. The X and Y chromosomes are the chromosomes that determine sex. These disorders are much more common in boys because the pair of sex chromosomes in males contains only one X chromosome (the other is a Y chromosome). If the disease gene is present on the one X chromosome, the X-linked disease shows up because there's no other paired gene to "overrule" the disease gene. One such X-linked disorder is hemophilia, which prevents the blood from clotting properly.
Back to list
Chromosomal Disorders
Some chromosomal disorders are inherited but most are caused by a random error in the genetics of the egg or sperm. The chance of a child having these disorders increases with the age of the mother. For example, according to ACOG, 1 in 1,667 live babies born to 20-year-olds have Down syndrome, which causes mental retardation and physical defects. That number changes to 1 in 378 for 35-year-olds and 1 in 106 for 40-year-olds.
Back to list
Multifactorial Disorders
This final category includes disorders that are caused by a mix of genetic and environmental factors. Their frequency varies from country to country, and some can be detected during pregnancy.
Multifactorial disorders include neural tube defects, which occur when the tube enclosing the spinal cord doesn't form properly. Neural tube defects, which often can be prevented by taking folic acid during the early part of pregnancy, include:
Spina bifida. Also called "open spine," this defect happens when the lower part of the neural tube doesn't close during embryo development, leaving the spinal cord and nerve bundles exposed.
Anencephaly. This defect occurs when the brain and head don't develop properly, and the top half of the brain is completely absent.
Other multifactorial disorders include:
congenital heart defects
obesity
diabetes
cancer
Back to list
Who Has Prenatal Tests?
Certain prenatal tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. Other nonroutine tests are recommended only for certain women, especially those with high-risk pregnancies. These include women who:
are age 35 or older
have had a premature baby
have had a baby with a birth defect — especially heart or genetic problems
have high blood pressure, diabetes, lupus, asthma, or a seizure disorder
have an ethnic background in which genetic disorders are common (or a partner who does)
have a family history of mental retardation (or a partner who does)
Although your health care provider (which may be your OB-GYN, family doctor, or a certified nurse-midwife) may recommend these tests, it's ultimately up to you to decide whether to have them.
Also, if you or your partner have a family history of genetic problems, you may want to consult with a genetic counselor to help you construct a family tree going back as far as three generations.
To decide which tests are right for you, it's important to carefully discuss with your health care provider:
what these tests are supposed to measure
how reliable they are
the potential risks
your options and plans if the results indicate a disorder or defect
Prenatal Tests During the First Visit
During your first visit to your health care provider for prenatal care, you can expect to have a full physical, including a pelvic and rectal examination, and you'll undergo certain tests regardless of your age or genetic background.
Blood tests check for:
Your blood type and Rh factor. If your blood is Rh negative and your partner's is Rh positive, you may develop antibodies that prove dangerous to your fetus. This can be treated through a course of injections.
Anemia (a low red blood cell count) to make sure you're not iron deficient
Hepatitis B, syphilis, and HIV/AIDS
Immunity to German measles (rubella) and chickenpox (varicella)
Cystic fibrosis. Health care providers now routinely check for this even when there's no family history of the disorder.
Cervical tests (also called Pap smears) check for:
STDs such as chlamydia and gonorrhea
cervical cancer
To do a Pap smear, your health care provider uses what looks like a very long mascara wand or cotton swab to gently scrape the inside of your cervix (the opening to the uterus that's located at the very top of the vagina). This doesn't hurt at all; some women say they feel a little twinge, but it only lasts a second.
Prenatal Tests Performed Throughout or Later in Pregnancy
After the initial visit, your health care provider will order other tests based on, among other things, your personal medical history and needs. These tests may include:
Urine tests for sugar, protein, and signs of infection. The sugar in urine indicates gestational diabetes — diabetes that occurs during pregnancy; the protein can indicate preeclampsia — a condition that develops in late pregnancy and is characterized by a sudden rise in blood pressure and excessive weight gain, with fluid retention and protein in the urine.
Group B streptococcus (GBS) infection. GBS bacteria are found naturally in the vaginas of many women and can cause serious infections in newborns. This test involves swabbing the vagina, usually between the 35th and 37th weeks of pregnancy.
Sickle cell trait tests for women of African or Mediterranean descent, who are at higher risk for having sickle cell anemia — a chronic blood disease — or carrying the trait, which can be passed on to their children.
Other Tests
Other tests that might be performed during pregnancy include:
Ultrasound
Glucose Screening
Chorionic Villus Sampling (CVS)
Maternal Blood Screening/Triple Screen/Quadruple Screen
Amniocentesis
Nonstress Test
Contraction Stress Test
Percutaneous Umbilical Blood Sampling (PUBS)
Ultrasound
Why Is This Test Performed?
In this test, sound waves are bounced off the baby's bones and tissues to construct an image showing the baby's shape and position in the uterus. Ultrasounds were once used only in high-risk pregnancies but have become so common that they're often part of routine prenatal care.
Also called a sonogram, sonograph, echogram, or ultrasonogram, an ultrasound is used:
to determine whether the fetus is growing at a normal rate
to verify the expected date of delivery
to record fetal heartbeat or breathing movements
to see whether there might be more than one fetus
to identify a variety of abnormalities that might affect the remainder of the pregnancy or delivery
to make sure the amount of amniotic fluid in the uterus is adequate
to indicate the position of the placenta in late pregnancy (which may be blocking the baby's way out of the uterus)
to detect pregnancies outside the uterus
as a guide during other tests such as amniocentesis
Ultrasounds also are used to detect:
structural defects such as spina bifida and anencephaly
congenital heart defects
gastrointestinal and kidney malformations
cleft lip or palate
Should I Have This Test?
Most women have at least one ultrasound. The test is considered to be safe; however, it is wise to find out from your health care provider if it's the most appropriate test for you.
When Should I Have This Test?
An ultrasound is usually performed at 18 to 20 weeks to look at your baby's anatomy. If you want to know your baby's gender, you may be able to find out during this time — that is, if his or her genitals are in a visible position.
Ultrasounds also can be done sooner or later and sometimes more than once, depending on the health care provider. For example, some will order an ultrasound to date the pregnancy, usually during the first 2 months. And others may want to order one during late pregnancy to make sure the baby's turned the right way before delivery.
Women with high-risk pregnancies may need to have multiple ultrasounds using more sophisticated equipment. Results can be confirmed when needed using special three-dimensional (3-D) equipment that allows the technician to get a more detailed look at the baby.
How Is This Test Performed?
Women need to have a full bladder for a transabdominal ultrasound (an ultrasound of the belly) to be performed in the early months — you may be asked to drink a lot of water and not urinate. You'll lie on an examining table and your abdomen will be coated with a special ultrasound gel. A technician will pass a wand-like instrument called a transducer back and forth over your abdomen. High-frequency sound waves "echo" off your body and create a picture of the fetus inside on a computer screen.
You may want to ask to have the picture interpreted for you, even in late pregnancy — it often doesn't look like a baby to the untrained eye.
Sometimes, if the technician isn't getting a good enough image from the ultrasound, he or she will determine that a transvaginal ultrasound is necessary. This is especially common in early pregnancy. For this procedure, your bladder should be empty. Instead of a transducer being moved over your abdomen, a slender probe called an endovaginal transducer is placed inside your vagina. This technique often provides improved images of the uterus and ovaries.
Some health care providers may have the equipment and trained personnel necessary to provide in-office ultrasounds, whereas others may have you go to a local hospital or radiology center. Depending on where you have the ultrasound done, you may be able to get a printed picture (or multiple pictures) of your baby and/or a disc of images you can view on your computer and even send to friends and family.
When Are the Results Available?
Immediately, but a full evaluation may take up to 1 week. A radiologist (a physician experienced in obstetric ultrasound) will analyze the images and send a signed report with his or her interpretation to your doctor.
Depending on where you have the ultrasound done, the technician may be able to tell you that day whether everything looks OK. However, most radiology centers or health care providers prefer that technicians not comment until a specialist has taken a look — especially if an abnormality is detected, but even when everything is OK.
Back to tests
Glucose Screening
Why Is This Test Performed?
Glucose screening checks for gestational diabetes, a short-term form of diabetes that develops in some women during pregnancy. Gestational diabetes occurs in 1% to 3% of pregnancies and can cause health problems for the baby.
Should I Have This Test?
Most women have this test.
When Should I Have This Test?
Screening for gestational diabetes usually takes place at 12 weeks for women at higher risk of having the condition, including those who:
have previously had a baby that weighs more than 9 pounds (4.1 kilograms)
have a family history of diabetes
are obese
are older than age 30
All other pregnant women are tested for diabetes at around 24 to 28 weeks. But if you've had high sugar in two routine urine tests, your health care provider may order it earlier.
How Is the Test Performed?
This test involves drinking a sugary liquid and then having your blood drawn after an hour. If the sugar level in the blood is high, you'll have a glucose-tolerance test, which means you'll drink a glucose solution on an empty stomach and have your blood drawn once every hour for 3 hours. The American Diabetes Association suggests that in order to confirm diabetes, these tests be performed at different times.
When Are the Results Available?
The results are usually available within a day, although your health care provider probably won't call you unless the reading is high and you need to come in for another test.
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Chorionic Villus Sampling (CVS)
Why Is This Test Performed?
Chorionic villi are tiny finger-like units that make up the placenta (a disk-like structure that sticks to the inner lining of the uterus and provides nutrients from the mother to the fetus through the umbilical cord). They have the same chromosomes and genetic makeup as the fetus.
This newer alternative to an amniocentesis removes some of the chorionic villi and tests them for chromosomal abnormalities, such as Down syndrome. Its advantage over an amniocentesis is that it can be performed earlier, allowing more time for expectant parents to receive counseling and make decisions.
Should I Have This Test?
Your health care provider may recommend this test if you:
are older than age 35
have a family history of genetic disorders (or a partner who does)
have a previous child with a birth defect
have had an earlier screening test that indicates that there may be a concern
Possible risks of this test include:
between a 0.5% and 1% risk of miscarriage
prematurity
early labor
infection
spotting or bleeding (this is more common with the transcervical method — see below)
When Should I Have This Test?
At 10 to 12 weeks.
How Is This Test Performed?
This test is done in one of two ways:
Transcervical. Using ultrasound as a guide, a thin tube is passed from the vagina into the cervix. Gentle suction removes a sample of tissue from the chorionic villi. No anesthetic is used, although some women do experience a pinch and cramping.
Transabdominal. A needle is inserted through the abdominal wall — this minimizes the chances of intrauterine infection, and in a woman whose uterus is in a bent position, reduces the chance of miscarriage. After the sample is taken, the doctor will check the fetus' heart rate. You should rest for several hours afterward.
When Are the Results Available?
Less than 1 week for Down syndrome and about 2 weeks for a thorough analysis.
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Maternal Blood Screening/Triple Screen/Quadruple Screen
Why Is This Test Performed?
Doctors use this to test the mother's blood only for alpha-fetoprotein (AFP). AFP is the protein produced by the fetus, and it appears in varying amounts in the mother's blood and the amniotic fluid at different times during pregnancy. A certain level in the mother's blood is considered normal, but higher or lower levels may indicate a problem. The test typically is used to determine risk for Down syndrome.
This test has been expanded, however, to also detect two pregnancy hormones — estriol and human chorionic gonadotropin (HCG) — which is why it's now sometimes called a "triple screen" or "triple marker." The test is called a "quadruple screen" ("quad screen") or "quadruple marker" ("quad marker") when the level of an additional substance — inhibin-A — is also measured. The greater number of markers increases the accuracy of the screening and better identifies the possibility of a birth defect.
This test, which also is called a multiple-marker screening or maternal serum screening, calculates a woman's individual risk of birth defects based on the levels of the three (or more) substances plus:
her age
her weight
her race
whether she has diabetes requiring insulin treatment
It's important to note, though, that this screening test determines risk only - it doesn't diagnose a condition.
Should I Have This Test?
All women are offered this test. Remember that this is a screening, not a definitive test — it indicates whether a woman is likely to be carrying an affected fetus. It's also not foolproof — spina bifida may go undetected, and some women with high levels have been found to be carrying a healthy baby. Further testing is recommended to confirm a positive result.
When Should I Have This Test?
At 16 to 18 weeks.
How Is the Test Performed?
Blood is drawn from the mother.
When Are the Results Available?
3 to 5 days, although it may take up 2 weeks.
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Amniocentesis
Why Is This Test Performed?
This test is most often used to detect:
Down syndrome and other chromosome abnormalities
structural defects such as spina bifida and anencephaly
inherited metabolic disorders
Late in the pregnancy, this test can reveal if a baby's lungs are strong enough to allow the baby to breathe normally after birth. This can help the health care provider make decisions about inducing labor or trying to prevent labor, depending on the situation. For instance, if a mother's water breaks early, the health care provider may want to try to hold off on delivering the baby as long as possible to allow for the baby's lungs to mature.
Other common birth defects, such as heart disorders and cleft lip and palate, can't be determined using this test.
Should I Have This Test?
Your health care provider may recommend this test if you:
are older than age 35
have a family history of genetic disorders (or a partner who does)
have a previous child with a birth defect
This test can be very accurate — close to 100% — but only certain disorders can be detected. According to the Centers for Disease Control and Prevention (CDC), the rate of miscarriage with this procedure is between 1 in 400 and 1 in 200. The procedure also carries a low risk of uterine infection (less than 1 in 1,000), which can cause miscarriage.
When Should I Have This Test?
At 16 to 18 weeks.
How Is the Test Performed?
A needle is inserted through the abdominal wall into the uterus to remove some (about 1 ounce) of the amniotic fluid. A local anesthetic may be used. Some women report that they experience cramping when the needle enters the uterus or pressure while the doctor retrieves the sample.
The doctor will check the fetus' heartbeat after the procedure to make sure it's normal. Most doctors recommend rest for several hours after the procedure.
The cells in the withdrawn fluid are grown in a special culture and then analyzed (the specific tests conducted on the fluid depend on personal and family medical history).
When Are the Results Available?
Timing varies; it can take up to 1 month, with the possibility that the lab will ask for a repeat. Tests of lung maturity are available immediately.
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Nonstress Test
Why Is This Test Performed?
A nonstress test (NST) can determine if the baby is responding normally to a stimulus. Used mostly in high-risk pregnancies or when a health care provider is uncertain of fetal movement, an NST can be performed at any point in the pregnancy after the 26th to 28th week when fetal heart rate can appropriately respond by accelerating and decelerating.
If you've gone beyond your due date, this test also uses external fetal monitoring to determine fetal movement. The NST can help a doctor make sure that the baby is receiving enough oxygen and that the nervous system is responding. However, a nonresponsive baby doesn't necessarily mean that the baby is in danger.
Should I Have This Test?
Your health care provider may recommend this if you have a high-risk pregnancy or if you have a low-risk pregnancy but are past your due date.
When Should I Have This Test?
At 1 week after the due date.
How Is the Test Performed?
The health care provider will measure the response of the fetus' heart rate to each movement the fetus makes as reported by the mother or observed by the doctor on an ultrasound screen. If the fetus doesn't move during the test, he or she may be asleep and the health care provider may use a buzzer to wake the baby.
When Are the Results Available?
Immediately.
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Contraction Stress Test
Why Is This Test Performed?
This test stimulates the uterus with pitocin, a synthetic form of oxytocin (a hormone secreted during childbirth), to determine the effect of contractions on fetal heart rate. It's usually recommended when a nonstress test indicates a problem and can determine whether the baby's heart rate remains stable during contractions.
Should I Have This Test?
This test is usually ordered if the nonstress test indicates a problem. It does have a high false-positive rate, though, and can induce labor.
When Should I Have This Test?
Your doctor will schedule it if he or she is concerned about how the baby will respond to contractions or feels that it is the appropriate test to determine the fetal heart rate response to a stimulus.
How Is the Test Performed?
Mild contractions are brought on either by injections of pitocin or by squeezing the mother's nipples (which causes oxytocin to be secreted). The fetus' heart rate is then monitored.
When Are the Results Available?
Immediately.
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Percutaneous Umbilical Blood Sampling (PUBS)
Why Is This Test Performed?
This test obtains fetal blood by guiding a needle into the umbilical vein. It's primarily used in addition to an ultrasound and amniocentesis if your health care provider needs to quickly check your baby's chromosomes for defects or disorders or if he or she is concerned that your baby may be anemic.
The advantage to this test is its speed. There are situations (such as when a fetus shows signs of distress) in which it's helpful to know whether the fetus has a fatal chromosomal defect. If the fetus is suspected to be anemic or to have a platelet disorder, this test is the only way to confirm this because it provides a blood sample rather than amniotic fluid. It also allows transfusion of blood or needed fluids into the baby while the needle is in place.
Should I Have This Test?
This test is used:
after an abnormality has been noted on an ultrasound
when amniocentesis results aren't conclusive
if the fetus may have Rh disease
if you've been exposed to an infectious disease that could potentially affect fetal development
When Should I Have This Test?
Between 18 and 36 weeks.
How Is the Test Performed?
A fine needle is passed through your abdomen and uterus into the fetal vein in the umbilical cord and blood is withdrawn for testing.
When Are the Results Available?
In 3 days.
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Talking to Your Health Care Provider
Some prenatal tests can be stressful, and because many aren't definitive, even a negative result may not ease any anxiety you may be experiencing. Because many women who have abnormal tests end up having healthy babies and because many of the problems that are detected can't be treated, some women decide not to have some of the tests.
One important thing to consider is what you'll do in the event that a birth defect is discovered. Your health care provider or a genetic counselor can help you establish priorities, give you the facts, and discuss your options.
It's also important to remember that tests are offered to women — they are not mandatory. You should feel free to ask your health care provider why he or she is ordering a certain test, what the risks and benefits are, and, most important, what the results will — and won't — tell you.
If you think that your health care provider isn't answering your questions adequately, you should say so. You don't have to accept the answer, "I do this test on all of my patients." Things you might want to ask include:
How accurate is this test?
What are you looking to get from these test results?/What do you hope to learn?
How long before I get the results?
Is the procedure painful?
Is the procedure dangerous to me or the fetus?
Do the potential benefits outweigh the risks?
What could happen if I don't undergo this test?
How much will the test cost?
Will the test be covered by insurance?
What do I need to do to prepare?
You also can ask your health care provider for literature about each type of test.
Preventing Birth Defects
The best thing that mothers-to-be can do to avoid birth defects is to take care of their bodies during pregnancy by:
not smoking (and avoiding second-hand smoke)
avoiding alcohol
eating a healthy diet
taking prenatal vitamins
getting exercise
getting plenty of rest
getting prenatal care
Reviewed by: Barbara P. Homeier, MD
Date reviewed: July 2005
Originally reviewed by: George A. Macones, MD
Concerns like these are completely natural. Fortunately, though, a wide array of tests for pregnant women can help to reassure them and keep them informed throughout their pregnancies.
Prenatal tests can help identify — and sometimes treat — health problems that could endanger both you and your unborn child. However, they do have limitations. As an expectant parent, it's important to educate yourself about these tests and to think about what you would do if a health problem is detected in either you or your baby.
Why Are Prenatal Tests Performed?
Prenatal tests can identify several different things:
treatable health problems in the mother that can affect the baby's health
characteristics of the baby, including size, sex, age, and placement in the uterus
the chance that a baby has certain congenital, genetic, or chromosomal problems
certain types of fetal abnormalities, including heart problems
The last two items on this list may seem the same, but there's a key difference. Some prenatal tests are screening tests and only reveal the possibility of a problem. Other prenatal tests are diagnostic, which means they can determine — with a fair degree of certainty — whether a fetus has a specific problem. In the interest of making the more specific determination, the screening test may be followed by a diagnostic test.
Prenatal testing is further complicated by the fact that approximately 250 birth defects can be diagnosed in a fetus — many more than can be treated or cured.
What Do Prenatal Tests Find?
Among other things, routine prenatal tests can determine key things about the mother's health, including:
her blood type
whether she has gestational diabetes
her immunity to certain diseases
whether she has a sexually transmitted disease (STD) or cervical cancer
All of these conditions can affect the health of the fetus.
Prenatal tests also can determine things about the fetus' health, including whether it's one of the 2% to 3% of babies in the United States that the American College of Obstetricians and Gynecologists (ACOG) says have major congenital birth defects.
Categories of defects screened by prenatal tests include:
Dominant Gene Disorders
Recessive Gene Disorders
X-Linked Disorders
Chromosomal Disorders
Multifactorial Disorders
Dominant Gene Disorders
In dominant gene disorders, there's a 50–50 chance a child will inherit the gene from the affected parent and have the disorder. Dominant gene disorders include:
Achondroplasia, a rare abnormality of the skeleton that causes a form of dwarfism
Huntingdon disease, a disease of the nervous system that causes a combination of mental deterioration and a movement disorder affecting people in their 30s and 40s
Back to list
Recessive Gene Disorders
Because there are so many genes in each cell, everyone carries some abnormal genes, but most people don't have a defect because the normal gene overrules the abnormal recessive one. But if a fetus has a pair of abnormal recessive genes (one from each parent), the child will have the disorder. It's more likely for this to happen in children born to certain ethnic groups. Recessive gene disorders include:
Cystic fibrosis, a disease most common among people of northern European descent that is life threatening and causes severe lung damage and nutritional deficiencies
Sickle cell disease, a disease most common among people of African descent in which red blood cells form a "sickle" shape (rather than the typical donut shape), which can get caught in blood vessels and cause damage to organs and tissues
Tay-Sachs disease, a disorder most common among people of European (Ashkenazi) Jewish descent that causes mental retardation, blindness, seizures, and death
Beta thalassemia, a disorder most common among people of Mediterranean descent that causes anemia
Back to list
X-Linked Disorders
These disorders are determined by genes on the X chromosome. The X and Y chromosomes are the chromosomes that determine sex. These disorders are much more common in boys because the pair of sex chromosomes in males contains only one X chromosome (the other is a Y chromosome). If the disease gene is present on the one X chromosome, the X-linked disease shows up because there's no other paired gene to "overrule" the disease gene. One such X-linked disorder is hemophilia, which prevents the blood from clotting properly.
Back to list
Chromosomal Disorders
Some chromosomal disorders are inherited but most are caused by a random error in the genetics of the egg or sperm. The chance of a child having these disorders increases with the age of the mother. For example, according to ACOG, 1 in 1,667 live babies born to 20-year-olds have Down syndrome, which causes mental retardation and physical defects. That number changes to 1 in 378 for 35-year-olds and 1 in 106 for 40-year-olds.
Back to list
Multifactorial Disorders
This final category includes disorders that are caused by a mix of genetic and environmental factors. Their frequency varies from country to country, and some can be detected during pregnancy.
Multifactorial disorders include neural tube defects, which occur when the tube enclosing the spinal cord doesn't form properly. Neural tube defects, which often can be prevented by taking folic acid during the early part of pregnancy, include:
Spina bifida. Also called "open spine," this defect happens when the lower part of the neural tube doesn't close during embryo development, leaving the spinal cord and nerve bundles exposed.
Anencephaly. This defect occurs when the brain and head don't develop properly, and the top half of the brain is completely absent.
Other multifactorial disorders include:
congenital heart defects
obesity
diabetes
cancer
Back to list
Who Has Prenatal Tests?
Certain prenatal tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. Other nonroutine tests are recommended only for certain women, especially those with high-risk pregnancies. These include women who:
are age 35 or older
have had a premature baby
have had a baby with a birth defect — especially heart or genetic problems
have high blood pressure, diabetes, lupus, asthma, or a seizure disorder
have an ethnic background in which genetic disorders are common (or a partner who does)
have a family history of mental retardation (or a partner who does)
Although your health care provider (which may be your OB-GYN, family doctor, or a certified nurse-midwife) may recommend these tests, it's ultimately up to you to decide whether to have them.
Also, if you or your partner have a family history of genetic problems, you may want to consult with a genetic counselor to help you construct a family tree going back as far as three generations.
To decide which tests are right for you, it's important to carefully discuss with your health care provider:
what these tests are supposed to measure
how reliable they are
the potential risks
your options and plans if the results indicate a disorder or defect
Prenatal Tests During the First Visit
During your first visit to your health care provider for prenatal care, you can expect to have a full physical, including a pelvic and rectal examination, and you'll undergo certain tests regardless of your age or genetic background.
Blood tests check for:
Your blood type and Rh factor. If your blood is Rh negative and your partner's is Rh positive, you may develop antibodies that prove dangerous to your fetus. This can be treated through a course of injections.
Anemia (a low red blood cell count) to make sure you're not iron deficient
Hepatitis B, syphilis, and HIV/AIDS
Immunity to German measles (rubella) and chickenpox (varicella)
Cystic fibrosis. Health care providers now routinely check for this even when there's no family history of the disorder.
Cervical tests (also called Pap smears) check for:
STDs such as chlamydia and gonorrhea
cervical cancer
To do a Pap smear, your health care provider uses what looks like a very long mascara wand or cotton swab to gently scrape the inside of your cervix (the opening to the uterus that's located at the very top of the vagina). This doesn't hurt at all; some women say they feel a little twinge, but it only lasts a second.
Prenatal Tests Performed Throughout or Later in Pregnancy
After the initial visit, your health care provider will order other tests based on, among other things, your personal medical history and needs. These tests may include:
Urine tests for sugar, protein, and signs of infection. The sugar in urine indicates gestational diabetes — diabetes that occurs during pregnancy; the protein can indicate preeclampsia — a condition that develops in late pregnancy and is characterized by a sudden rise in blood pressure and excessive weight gain, with fluid retention and protein in the urine.
Group B streptococcus (GBS) infection. GBS bacteria are found naturally in the vaginas of many women and can cause serious infections in newborns. This test involves swabbing the vagina, usually between the 35th and 37th weeks of pregnancy.
Sickle cell trait tests for women of African or Mediterranean descent, who are at higher risk for having sickle cell anemia — a chronic blood disease — or carrying the trait, which can be passed on to their children.
Other Tests
Other tests that might be performed during pregnancy include:
Ultrasound
Glucose Screening
Chorionic Villus Sampling (CVS)
Maternal Blood Screening/Triple Screen/Quadruple Screen
Amniocentesis
Nonstress Test
Contraction Stress Test
Percutaneous Umbilical Blood Sampling (PUBS)
Ultrasound
Why Is This Test Performed?
In this test, sound waves are bounced off the baby's bones and tissues to construct an image showing the baby's shape and position in the uterus. Ultrasounds were once used only in high-risk pregnancies but have become so common that they're often part of routine prenatal care.
Also called a sonogram, sonograph, echogram, or ultrasonogram, an ultrasound is used:
to determine whether the fetus is growing at a normal rate
to verify the expected date of delivery
to record fetal heartbeat or breathing movements
to see whether there might be more than one fetus
to identify a variety of abnormalities that might affect the remainder of the pregnancy or delivery
to make sure the amount of amniotic fluid in the uterus is adequate
to indicate the position of the placenta in late pregnancy (which may be blocking the baby's way out of the uterus)
to detect pregnancies outside the uterus
as a guide during other tests such as amniocentesis
Ultrasounds also are used to detect:
structural defects such as spina bifida and anencephaly
congenital heart defects
gastrointestinal and kidney malformations
cleft lip or palate
Should I Have This Test?
Most women have at least one ultrasound. The test is considered to be safe; however, it is wise to find out from your health care provider if it's the most appropriate test for you.
When Should I Have This Test?
An ultrasound is usually performed at 18 to 20 weeks to look at your baby's anatomy. If you want to know your baby's gender, you may be able to find out during this time — that is, if his or her genitals are in a visible position.
Ultrasounds also can be done sooner or later and sometimes more than once, depending on the health care provider. For example, some will order an ultrasound to date the pregnancy, usually during the first 2 months. And others may want to order one during late pregnancy to make sure the baby's turned the right way before delivery.
Women with high-risk pregnancies may need to have multiple ultrasounds using more sophisticated equipment. Results can be confirmed when needed using special three-dimensional (3-D) equipment that allows the technician to get a more detailed look at the baby.
How Is This Test Performed?
Women need to have a full bladder for a transabdominal ultrasound (an ultrasound of the belly) to be performed in the early months — you may be asked to drink a lot of water and not urinate. You'll lie on an examining table and your abdomen will be coated with a special ultrasound gel. A technician will pass a wand-like instrument called a transducer back and forth over your abdomen. High-frequency sound waves "echo" off your body and create a picture of the fetus inside on a computer screen.
You may want to ask to have the picture interpreted for you, even in late pregnancy — it often doesn't look like a baby to the untrained eye.
Sometimes, if the technician isn't getting a good enough image from the ultrasound, he or she will determine that a transvaginal ultrasound is necessary. This is especially common in early pregnancy. For this procedure, your bladder should be empty. Instead of a transducer being moved over your abdomen, a slender probe called an endovaginal transducer is placed inside your vagina. This technique often provides improved images of the uterus and ovaries.
Some health care providers may have the equipment and trained personnel necessary to provide in-office ultrasounds, whereas others may have you go to a local hospital or radiology center. Depending on where you have the ultrasound done, you may be able to get a printed picture (or multiple pictures) of your baby and/or a disc of images you can view on your computer and even send to friends and family.
When Are the Results Available?
Immediately, but a full evaluation may take up to 1 week. A radiologist (a physician experienced in obstetric ultrasound) will analyze the images and send a signed report with his or her interpretation to your doctor.
Depending on where you have the ultrasound done, the technician may be able to tell you that day whether everything looks OK. However, most radiology centers or health care providers prefer that technicians not comment until a specialist has taken a look — especially if an abnormality is detected, but even when everything is OK.
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Glucose Screening
Why Is This Test Performed?
Glucose screening checks for gestational diabetes, a short-term form of diabetes that develops in some women during pregnancy. Gestational diabetes occurs in 1% to 3% of pregnancies and can cause health problems for the baby.
Should I Have This Test?
Most women have this test.
When Should I Have This Test?
Screening for gestational diabetes usually takes place at 12 weeks for women at higher risk of having the condition, including those who:
have previously had a baby that weighs more than 9 pounds (4.1 kilograms)
have a family history of diabetes
are obese
are older than age 30
All other pregnant women are tested for diabetes at around 24 to 28 weeks. But if you've had high sugar in two routine urine tests, your health care provider may order it earlier.
How Is the Test Performed?
This test involves drinking a sugary liquid and then having your blood drawn after an hour. If the sugar level in the blood is high, you'll have a glucose-tolerance test, which means you'll drink a glucose solution on an empty stomach and have your blood drawn once every hour for 3 hours. The American Diabetes Association suggests that in order to confirm diabetes, these tests be performed at different times.
When Are the Results Available?
The results are usually available within a day, although your health care provider probably won't call you unless the reading is high and you need to come in for another test.
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Chorionic Villus Sampling (CVS)
Why Is This Test Performed?
Chorionic villi are tiny finger-like units that make up the placenta (a disk-like structure that sticks to the inner lining of the uterus and provides nutrients from the mother to the fetus through the umbilical cord). They have the same chromosomes and genetic makeup as the fetus.
This newer alternative to an amniocentesis removes some of the chorionic villi and tests them for chromosomal abnormalities, such as Down syndrome. Its advantage over an amniocentesis is that it can be performed earlier, allowing more time for expectant parents to receive counseling and make decisions.
Should I Have This Test?
Your health care provider may recommend this test if you:
are older than age 35
have a family history of genetic disorders (or a partner who does)
have a previous child with a birth defect
have had an earlier screening test that indicates that there may be a concern
Possible risks of this test include:
between a 0.5% and 1% risk of miscarriage
prematurity
early labor
infection
spotting or bleeding (this is more common with the transcervical method — see below)
When Should I Have This Test?
At 10 to 12 weeks.
How Is This Test Performed?
This test is done in one of two ways:
Transcervical. Using ultrasound as a guide, a thin tube is passed from the vagina into the cervix. Gentle suction removes a sample of tissue from the chorionic villi. No anesthetic is used, although some women do experience a pinch and cramping.
Transabdominal. A needle is inserted through the abdominal wall — this minimizes the chances of intrauterine infection, and in a woman whose uterus is in a bent position, reduces the chance of miscarriage. After the sample is taken, the doctor will check the fetus' heart rate. You should rest for several hours afterward.
When Are the Results Available?
Less than 1 week for Down syndrome and about 2 weeks for a thorough analysis.
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Maternal Blood Screening/Triple Screen/Quadruple Screen
Why Is This Test Performed?
Doctors use this to test the mother's blood only for alpha-fetoprotein (AFP). AFP is the protein produced by the fetus, and it appears in varying amounts in the mother's blood and the amniotic fluid at different times during pregnancy. A certain level in the mother's blood is considered normal, but higher or lower levels may indicate a problem. The test typically is used to determine risk for Down syndrome.
This test has been expanded, however, to also detect two pregnancy hormones — estriol and human chorionic gonadotropin (HCG) — which is why it's now sometimes called a "triple screen" or "triple marker." The test is called a "quadruple screen" ("quad screen") or "quadruple marker" ("quad marker") when the level of an additional substance — inhibin-A — is also measured. The greater number of markers increases the accuracy of the screening and better identifies the possibility of a birth defect.
This test, which also is called a multiple-marker screening or maternal serum screening, calculates a woman's individual risk of birth defects based on the levels of the three (or more) substances plus:
her age
her weight
her race
whether she has diabetes requiring insulin treatment
It's important to note, though, that this screening test determines risk only - it doesn't diagnose a condition.
Should I Have This Test?
All women are offered this test. Remember that this is a screening, not a definitive test — it indicates whether a woman is likely to be carrying an affected fetus. It's also not foolproof — spina bifida may go undetected, and some women with high levels have been found to be carrying a healthy baby. Further testing is recommended to confirm a positive result.
When Should I Have This Test?
At 16 to 18 weeks.
How Is the Test Performed?
Blood is drawn from the mother.
When Are the Results Available?
3 to 5 days, although it may take up 2 weeks.
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Amniocentesis
Why Is This Test Performed?
This test is most often used to detect:
Down syndrome and other chromosome abnormalities
structural defects such as spina bifida and anencephaly
inherited metabolic disorders
Late in the pregnancy, this test can reveal if a baby's lungs are strong enough to allow the baby to breathe normally after birth. This can help the health care provider make decisions about inducing labor or trying to prevent labor, depending on the situation. For instance, if a mother's water breaks early, the health care provider may want to try to hold off on delivering the baby as long as possible to allow for the baby's lungs to mature.
Other common birth defects, such as heart disorders and cleft lip and palate, can't be determined using this test.
Should I Have This Test?
Your health care provider may recommend this test if you:
are older than age 35
have a family history of genetic disorders (or a partner who does)
have a previous child with a birth defect
This test can be very accurate — close to 100% — but only certain disorders can be detected. According to the Centers for Disease Control and Prevention (CDC), the rate of miscarriage with this procedure is between 1 in 400 and 1 in 200. The procedure also carries a low risk of uterine infection (less than 1 in 1,000), which can cause miscarriage.
When Should I Have This Test?
At 16 to 18 weeks.
How Is the Test Performed?
A needle is inserted through the abdominal wall into the uterus to remove some (about 1 ounce) of the amniotic fluid. A local anesthetic may be used. Some women report that they experience cramping when the needle enters the uterus or pressure while the doctor retrieves the sample.
The doctor will check the fetus' heartbeat after the procedure to make sure it's normal. Most doctors recommend rest for several hours after the procedure.
The cells in the withdrawn fluid are grown in a special culture and then analyzed (the specific tests conducted on the fluid depend on personal and family medical history).
When Are the Results Available?
Timing varies; it can take up to 1 month, with the possibility that the lab will ask for a repeat. Tests of lung maturity are available immediately.
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Nonstress Test
Why Is This Test Performed?
A nonstress test (NST) can determine if the baby is responding normally to a stimulus. Used mostly in high-risk pregnancies or when a health care provider is uncertain of fetal movement, an NST can be performed at any point in the pregnancy after the 26th to 28th week when fetal heart rate can appropriately respond by accelerating and decelerating.
If you've gone beyond your due date, this test also uses external fetal monitoring to determine fetal movement. The NST can help a doctor make sure that the baby is receiving enough oxygen and that the nervous system is responding. However, a nonresponsive baby doesn't necessarily mean that the baby is in danger.
Should I Have This Test?
Your health care provider may recommend this if you have a high-risk pregnancy or if you have a low-risk pregnancy but are past your due date.
When Should I Have This Test?
At 1 week after the due date.
How Is the Test Performed?
The health care provider will measure the response of the fetus' heart rate to each movement the fetus makes as reported by the mother or observed by the doctor on an ultrasound screen. If the fetus doesn't move during the test, he or she may be asleep and the health care provider may use a buzzer to wake the baby.
When Are the Results Available?
Immediately.
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Contraction Stress Test
Why Is This Test Performed?
This test stimulates the uterus with pitocin, a synthetic form of oxytocin (a hormone secreted during childbirth), to determine the effect of contractions on fetal heart rate. It's usually recommended when a nonstress test indicates a problem and can determine whether the baby's heart rate remains stable during contractions.
Should I Have This Test?
This test is usually ordered if the nonstress test indicates a problem. It does have a high false-positive rate, though, and can induce labor.
When Should I Have This Test?
Your doctor will schedule it if he or she is concerned about how the baby will respond to contractions or feels that it is the appropriate test to determine the fetal heart rate response to a stimulus.
How Is the Test Performed?
Mild contractions are brought on either by injections of pitocin or by squeezing the mother's nipples (which causes oxytocin to be secreted). The fetus' heart rate is then monitored.
When Are the Results Available?
Immediately.
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Percutaneous Umbilical Blood Sampling (PUBS)
Why Is This Test Performed?
This test obtains fetal blood by guiding a needle into the umbilical vein. It's primarily used in addition to an ultrasound and amniocentesis if your health care provider needs to quickly check your baby's chromosomes for defects or disorders or if he or she is concerned that your baby may be anemic.
The advantage to this test is its speed. There are situations (such as when a fetus shows signs of distress) in which it's helpful to know whether the fetus has a fatal chromosomal defect. If the fetus is suspected to be anemic or to have a platelet disorder, this test is the only way to confirm this because it provides a blood sample rather than amniotic fluid. It also allows transfusion of blood or needed fluids into the baby while the needle is in place.
Should I Have This Test?
This test is used:
after an abnormality has been noted on an ultrasound
when amniocentesis results aren't conclusive
if the fetus may have Rh disease
if you've been exposed to an infectious disease that could potentially affect fetal development
When Should I Have This Test?
Between 18 and 36 weeks.
How Is the Test Performed?
A fine needle is passed through your abdomen and uterus into the fetal vein in the umbilical cord and blood is withdrawn for testing.
When Are the Results Available?
In 3 days.
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Talking to Your Health Care Provider
Some prenatal tests can be stressful, and because many aren't definitive, even a negative result may not ease any anxiety you may be experiencing. Because many women who have abnormal tests end up having healthy babies and because many of the problems that are detected can't be treated, some women decide not to have some of the tests.
One important thing to consider is what you'll do in the event that a birth defect is discovered. Your health care provider or a genetic counselor can help you establish priorities, give you the facts, and discuss your options.
It's also important to remember that tests are offered to women — they are not mandatory. You should feel free to ask your health care provider why he or she is ordering a certain test, what the risks and benefits are, and, most important, what the results will — and won't — tell you.
If you think that your health care provider isn't answering your questions adequately, you should say so. You don't have to accept the answer, "I do this test on all of my patients." Things you might want to ask include:
How accurate is this test?
What are you looking to get from these test results?/What do you hope to learn?
How long before I get the results?
Is the procedure painful?
Is the procedure dangerous to me or the fetus?
Do the potential benefits outweigh the risks?
What could happen if I don't undergo this test?
How much will the test cost?
Will the test be covered by insurance?
What do I need to do to prepare?
You also can ask your health care provider for literature about each type of test.
Preventing Birth Defects
The best thing that mothers-to-be can do to avoid birth defects is to take care of their bodies during pregnancy by:
not smoking (and avoiding second-hand smoke)
avoiding alcohol
eating a healthy diet
taking prenatal vitamins
getting exercise
getting plenty of rest
getting prenatal care
Reviewed by: Barbara P. Homeier, MD
Date reviewed: July 2005
Originally reviewed by: George A. Macones, MD
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