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How much can you tell from the screening? -GE

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How much can you tell from the screening? -GE

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The pre-natal screening allows the mother to know what birth defects the baby will be born with. The screenings are done at week ten in the first trimester. The ultra sound shows the baby on a screen to see how big it is and if there are any abnormalities so far.

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

A screening test can only provide your risk, or probability, that a particular condition exists. When the results of a screening test are positive, diagnostic tests can provide a definitive answer.

Some prenatal screening tests are routine procedures, such as glucose tolerance tests, which check for gestational diabetes. Women who have a higher risk of having a child with certain conditions are usually offered additional screening tests. For example, pregnant women who've lived in regions where tuberculosis is common should have a tuberculin skin test.

First trimester screening tests can begin as early as 10 weeks. These usually involve blood tests and an ultrasound. They test your baby's overall development and check to see if your baby is at risk for genetic conditions, such as Down syndrome. They also check your baby for heart defects, cystic fibrosis, and other developmental problems.

Second trimester screening tests occur between 14 and 18 weeks. They can involve a blood test, which tests whether a mother is at risk for having a child with Down syndrome or neural tube defects, as well as an ultrasound.

Ultrasound

An ultrasound uses sound waves to create an image of the baby in the uterus. The test is used to determine the size and position of your baby, confirm how far along you are in your pregnancy, and find any potential abnormalities in the structure of your baby's growing bones and organs.

A special ultrasound called a nuchal translucency ultrasound is performed between the 11th and 14th weeks of pregnancy. This ultrasound checks the accumulation of fluid at the back of your baby's neck. When there's more fluid than normal, this means there's a higher risk of Down syndrome.

During the second trimester, a more detailed ultrasound, which is often called a fetal anatomy survey, is used to evaluate the baby carefully from head to toe for any birth defects. However, not all birth defects are visible by ultrasound.

Early Blood Tests

During the first trimester, two types of blood tests called a sequential integrated screening test and a serum integrated screening are conducted. They're used to measure the levels of certain substances in your blood, namely, pregnancy-associated plasma protein-A and a hormone called human chorionic gonadotropin. Abnormal levels of either mean there's a higher risk of a chromosome abnormality.

At your first prenatal visit, your blood may also be tested to see if you're immunized against rubella and to screen for syphilis, hepatitis B, and HIV.

A blood test will also be used to determine your blood type and Rh factor, which determines your Rh compatibility with your growing fetus. You can be either Rh-positive or Rh-negative. Most people are Rh-positive, but if a mother is found to be Rh-negative, her body will produce antibodies that will affect any subsequent pregnancies.

When there's an Rh incompatibility, most women will be given a shot of Rh-immune globulin at 28 weeks and again a few days after delivery. Incompatibility occurs if a woman is Rh-negative and her baby is Rh-positive. If the woman is Rh-negative and her baby's positive, she'll need the shot. If her baby is Rh-negative, she won't.

Chorionic Villus Sampling

Chorionic villus sampling is an invasive screening test that involves taking a small piece of tissue from the placenta. It's usually performed between the 10th and 12th weeks and is used to test for genetic abnormalities, like Down syndrome, and birth defects. There are two types. One type tests through the belly, which is called a transabdominal test, and one type tests through the cervix, which is called a transcervical test.

Testing has some side effects, like cramps or spotting. There's also a small risk of miscarriage.

Blood Tests

A quad marker screening test is a blood test conducted during the second trimester. It's done to test your blood for indications of birth defects, such as Down syndrome. It measures four of the fetal proteins.

A quad marker screening is typically offered if you start prenatal care too late to receive either the serum integrated screening or the sequential integrated screening. It has a lower detection rate for Down syndrome and other birth defects than a sequential integrated screening test or serum integrated screening test.

Glucose Screening

A glucose screening test checks for gestational diabetes. This is usually a condition that can develop during pregnancy. It's usually temporary. Gestational diabetes can increase your potential need for a caesarean delivery because babies of mothers with gestational diabetes are usually born larger. Your child may also have low blood sugar in the days following delivery.

The test is usually performed during the second trimester. It involves drinking a sugary solution, having your blood drawn, and then checking your blood sugar levels. If you do test positive for gestational diabetes, you have a higher risk of developing diabetes within the following 10 years, and you should get the test again after the pregnancy.

Amniocentesis

During amniocentesis, amniotic fluid is removed from the uterus for testing. Amniotic fluid surrounds the baby during pregnancy. It contains fetal cells with the same genetic makeup as the baby, as well as various chemicals produced by the baby's body. There are several types of amniocentesis.

A genetic amniocentesis tests for genetic abnormalities, such as Down syndrome and spina bifida. A genetic amniocentesis is usually performed after week 15 of the pregnancy. It may be considered if:

a prenatal screening test showed abnormal results

you had a chromosomal abnormality during a previous pregnancy

you're 35 or older

you have a family history of a specific genetic disorder

you or your partner is a known carrier of a genetic disorder

Amaturity amniocentesis is performed later, during the third trimester, to determine whether or not your baby's lungs are ready for birth. This diagnostic test is only done if a planned early delivery through either induction of labor or a cesarean delivery is being considered for medical reasons. It's usually done between weeks 32 and 39.

Group B Strep Screening

Group B Streptococcus (GBS) is a type of bacteria that can cause serious infections in pregnant women and newborns. GBS is often found in the following areas in healthy women:

GBS in the vagina generally isn't harmful to a woman regardless of whether she's pregnant. However, it can be very harmful to a newborn baby who doesn't yet have a robust immune system. GBS can cause serious infections in babies exposed during birth. You can be screened for GBS with a swab taken from your vagina and rectum at 35-37 weeks.

If you test positive for GBS, you'll receive antibiotics while you're in labor to reduce your baby's risk of contracting a GBS infection.

Diagnostic tests are the next step after a screening test that yields a positive result. They leave virtually no doubt as to the existence or absence of certain birth defects.

Diagnostic tests are more invasive than screening tests. They're usually only done if there's a specific concern, if a screening test indicates a problem, or if your age, family history, or medical history suggests that you may have an increased risk for a problematic pregnancy. Diagnostic tests can carry a very small risk of miscarriage.

Prenatal screening tests can be an important source of information for many people. While many of these tests are routine, some can be a much more personal decision. Talk to your doctor about your concerns if you're not sure if you should be screened or if you're feeling anxious. You can also ask to be referred to a genetic counselor. Your healthcare team can discuss the risks and benefits with you and help you decide whether prenatal screening is right for you.

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Prenatal Screening Tests: Types, Diagnosis, and Takeaways

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

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what perccent of women get  pre-natal screening? -GE

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what perccent of women get  pre-natal screening? -GE

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75% of women get a pre-natal screening for Downs in the U.S.

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A recent study calculated how many women in the United States have prenatal screening for Down syndrome. It's a growing number.

Glenn Palomaki led a team surveying testing laboratories to find out how many women in the United States are having prenatal testing for Down syndrome (here's the full report). Palomaki has made a career in developing screening tests for Down syndrome, and was the lead author on the study Sequenom relied on to launch MaterniT21 in 2011.

Here's what Palomaki and his team found about the rate of prenatal screening for Down syndrome in the United States:

In 1988, a study found that about 25% of all pregnancies in the United States had prenatal screening for Down syndrome.

In 1992, that number rose to be about 50% of all pregnancies being screened.

Palomaki's study found that in 2011-2012 up to 72% of all pregnancies were screened for Down syndrome.

The study provided a further breakdown of what type of prenatal screening women were having:

60% received second trimester screening, usually quad testing.

21% had integrated screening making it the second most common.

First-trimester screening rose from 7% in 2011 to 19% in 2012.

The breakdown in the type of tests is somewhat surprising.

Since 2007, all women are to have been offered prenatal screening for Down syndrome, with the professional guideline making this recommendation being prompted by the advent of first-trimester prenatal screening. In 2009, a survey of obstetricians found a "new paradigm" with OBs offering prenatal testing to all of their patients. Yet, four years after the recommendations, and two years after the "new paradigm," Palomaki et al.'s study found that 60% of all pregnancies having screening were done in the second trimester, not the first.

One other point about the Palomaki study: it's already outdated.

As mentioned at the start, Palomaki's other study in 2011 launched the new era of prenatal testing with non-invasive prenatal screening (NIPS). But, none of the labs surveyed included the NIPS labs.

Palomaki's et al's study is of interest as it is the most recent calculation of the percentage of women undergoing prenatal screening for Down syndrome in the United States. But, it represents a snapshot of an era of prenatal screening that is now incomplete, since NIPS is increasingly being accepted by expectant mothers. Palomaki et al.'s study recognizes this in its conclusion.

It will be of interest to see any follow up report from 2013-2014 that includes the NIPS laboratories to see how NIPS has changed the rate of uptake of women accepting prenatal screening for Down syndrome, and in what trimester they do so.

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How many women have prenatal testing for Down syndrome?

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A recent study calculated how many women in the United States have prenatal screening for Down syndrome. It's a growing number. Glenn Palomaki led a team surveying testing laboratories to find out how many women in the United States are having prenatal testing for Down syndrome (here's the full report).

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Different Types of Pre-natal screenings- ES

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Different Types of Pre-natal screenings- ES

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There are two different types of prenatal screening: Screening tests and Diagnostic tests.  The first tells you of a child's genetic abnormalities that are possible to occur, while the second can tell a mother with certainty of a problem.  In different procedures can tell a mother about different possible genetic problems, for example the Nuchal Translucency (NT) screening is an ultra sound done to check on the embryonic fluid of a mothers placenta, and if there is sign of too much fluid then further diagnostic tests are done such as CVS or amniocentesis to  see for sure if a baby has  down syndrome or other genetic abnormalities.  The diagnostic tests can be done at different stages of pregnancy and involve more than just an ultrasound, they can involve taking sample fluid of a mothers placenta( Amniocentesis tests) and or taking samples of a placentas tissue( CVS testing).

Link Was not uploading: http://www.stanfordchildrens.org/en/service/perinatal-diagnostic-center/prenatal-testing

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Pre-Natal screening vs Genetic testing. Sz

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Pre-Natal screening vs Genetic testing. Sz

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Pre-natal screenings only determine your baby's chance of having a disability, while genetic testing can give you a direct answer.

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Credit: Pregnant belly image via Shutterstock

Genetics can influence the color of a baby's eyes and hair, but it can also affect the development of certain birth defects or genetic disorders. That's why women are routinely offered a variety of genetic screening tests in the first and second trimesters of pregnancy to evaluate the risk for these potential problems in their unborn baby.

Screening tests can determine whether the baby is more or less likely to have certain birth defects or genetic disorders, which may be inherited. Screening results along with other risk factors, such as a woman's age and a couple's ethnic background and family history of genetic disorders, are used to calculate the odds that the fetus might be born with certain genetic disorders, such as Down syndrome, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia.

Birth defects affect 1 in 33 babies - about 3 percent of all babies - born in the United States each year, according to the Centers for Disease Control and Prevention (CDC). Birth defects can occur at any point during pregnancy, but most of them occur during the first trimester, when the baby's organs are forming, the CDC says.

Genetic screening is offered to all pregnant women, and it's usually discussed during the first prenatal visit, said Dr. Andrea Greiner, a maternal and fetal medicine specialist at the University of Iowa Hospitals and Clinics. "It's optional, but not required."

Most women get prenatal genetic testing to know what the risk is before the baby is born, Greiner said. They would rather know the information during pregnancy than at birth so they can make plans and decisions ahead of time or gain further knowledge, she explained.

"Every woman wants to believe that her pregnancy is normal and uncomplicated," Greiner told Live Science. If a pregnant woman chooses to have genetic screening, there is a possibility that the results could come back abnormal so it's important to think about how this information might affect her, she noted.

But not all genetic screening occurs while a woman is expecting. In some situations, it may be done before becoming pregnant. For example, during pre-conception genetic screening, carrier tests can be done to determine whether the mother or father carry a certain gene for genetic disorders that might run in families, such as cystic fibrosis and sickle cell anemia, and could be passed on when the couple conceives.

A common misconception among some pregnant women is that the only reason to do genetic screening and diagnostic testing is if they were going to have an abortion because of a positive result, Greiner said. But that's not the case, she said.

Whether or not a woman decides to undergo genetic screening is her own choice, as positive results could produce anxiety and conflicting emotions. Another disadvantage is that genetic screenings can give false positive results, meaning they can be wrong and lead expectant parents to believe their unborn babies might have genetic abnormalities when they do not. There's also a chance the screening will not pick up a chromosomal abnormality or birth defect when there is one.

That's why pregnant women should not make decisions about terminating a pregnancy based on a positive screening result alone without obtaining a diagnostic test to confirm or rule out a diagnosis.

Genetic screening tests and diagnostic tests are not the same things. Genetic screening is measuring a level of risk for genetic diseases in the fetus, Greiner said.

Screening tests evaluate the degree of risk, or chance, that the fetus may potentially have certain common birth defects. But they cannot tell with certainty if the baby actually has the problem, according to the American College of Obstetricians and Gynecologists.

First trimester screening tests are usually done between the 10th and 13th weeks of pregnancy. One common screening test measures the level of certain substances in the mother's blood to assess the risk for Down syndrome and other chromosomal problems. Another first trimester screening test, known as "nuchal translucency," uses ultrasound to examine the area at the back of the fetus's neck for increased fluid or thickening, which may indicate a potential risk for Down syndrome.

A new screening test called cell-free fetal DNA testing is typically done at the 10th week of pregnancy and uses DNA from the mother's blood to detect Down syndrome. Not covered by all health insurance plans, cell-free fetal DNA testing should only be used by women who are at high risk for chromosomal abnormalities, Greiner told Live Science.

"The science is still very new and patients should use some caution," Greiner said, but it's important for women to know that cell-free fetal DNA is not a replacement for diagnostic testing if it shows a positive result.

Some genetic screening tests can be done during the second trimester. One of them is called the "quad screen," which measures four specific substances in the mother's blood and can identify genetic disorders, such as Down syndrome. The quad screen can also help detect neural tube defects, which are birth defects of the brain and spinal cord, such as spina bifida. A second ultrasound, typically done between the 18th and 22nd weeks of pregnancy, may look for structural abnormalities in the developing fetus, such as cleft lip or heart defects, and can also screen for some genetic disorders, such as Down syndrome.

The screening tests are not considered harmful to the mother or the fetus, but positive screening results cannot make a definitive diagnosis. If a woman receives a positive result on a screening test, she should discuss her options with her health care provider, including whether she may wish to undergo any diagnostic tests, which have greater accuracy and reliability than genetic screening alone.

Diagnostic tests can actually detect many genetic conditions caused by defects in a gene or chromosome. They usually can tell prospective parents whether or not their fetus has a particular genetic problem. Some diagnostic tests carry risks to a woman, such as a slight risk of pregnancy loss.

Both diagnostic tests - chorionic villus sampling and amniocentesis- are invasive tests and involve extracting cells from the fetus and analyzing them under a microscope. Then geneticists can determine whether the fetus has too few or too many chromosomes present, or if the chromosomes are damaged and could result in a genetic problem.

Chorionic Villus Sampling (CVS)

Done during the first trimester of pregnancy usually at 10 to 12 weeks, this diagnostic test involves taking a small sample of cells from the placenta. Placental tissue contains the same genetic material as the fetus and can be checked for chromosomal abnormalities and other genetic disorders. However, CVS cannot identify neural tube defects, such as spina bifida, which can be detected by amniocentesis.

How it's done: Depending upon where the placenta is located and using ultrasound for guidance, a small tube is inserted through either the mother's abdomen or her vagina and a small tissue sample is withdrawn from the placenta.

Possible risks: CVS has a slightly higher risk of miscarriage than amniocentesis. CVS has a 1 percent risk of miscarriage, according to the Mayo Clinic.

Amniocentesis

"Amniocentesis is considered the gold standard for prenatal genetic testing," Greiner said.

How it's done: A long, thin needle is inserted into the mother's abdomen to obtain a sample of the amniotic fluid surrounding the fetus. The procedure is usually done between the 15th and 20th weeks of pregnancy, and the amniotic fluid contains cells from the fetus with genetic information about the unborn child.

Possible risks: Amniocentesis carries a lower risk of miscarriage than CVS, about 1 in 400, Greiner said.

Greiner said that some of her patients ask her why they should do prenatal genetic testing because if a positive result is found, the genetic problem detected in the baby can't be changed, fixed or treated.

She responds to this question by telling her patients that no one likes a surprise. Knowing positive test results in advance can help expectant parents plan and prepare themselves as well as their home for a baby who may have special needs.

Greiner said women need to ask themselves whether a positive diagnostic test result would cause them anxiety if they choose to continue the pregnancy, or if these genetic findings may provide reassurance if they decide to terminate the pregnancy as a result of the diagnosis.

Additional resources

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Prenatal Genetic Screening Tests: Benefits & Risks

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Genetics can influence the color of a baby's eyes and hair, but it can also affect the development of certain birth defects or genetic disorders. That's why women are routinely offered a variety of genetic screening tests in the first and second trimesters of pregnancy to evaluate the risk for these potential problems in their unborn baby.

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Which screenings are only available in high risk pregnancies?

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Which screenings are only available in high risk pregnancies?

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Can prenatal screening hurt the baby or mother? ES

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Can prenatal screening hurt the baby or mother? ES

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Decisions on whether to take prenatal screens or not can be based on cost or the desire to know the genetic makeup of your baby, but there are also possible risks of miscarrage Depending on the screening test being done.

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Two types of screenings, one where needles are inserted through the belly and into the womb to take a sample.only the first method can cause a possible miscarriage. Another where an ultrasound is used to hear and see how the baby is doing.

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They are tests to see if your baby is at risk of a genetic disorder, such as Down syndrome. Genetic disorders happen when your baby does not have the normal number of chromosomes, which contain the baby's genes, or when there are problems with the brain or spine.

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The controversies surrounding prenatal screenings. -ES

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The controversies surrounding prenatal screenings. -ES

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Pre-natal screening has the ability to detect faulty genes in a fetus such as down syndrome, or other diseises. This causes controversy over a parent's choice to abort their fetus, and causes further debate on rights and abortion.

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"How much choice do you really want to give?" asked Arthur Caplan, chairman of the department of medical ethics at the University of Pennsylvania School of Medicine. "That's the challenge of prenatal testing to pro-choicers."

For many women and their partners, the decision to terminate a pregnancy after a prenatal diagnosis of a serious genetic defect can be harrowing, often coming after a painful assessment of their own emotional and financial resources.

And there is widespread support for such an option: 70 percent of Americans said they believe that women should be able to obtain a legal abortion if there is a strong chance of a serious defect in the baby, according to a 2006 poll conducted by the National Opinion Research Center.

"This issue underscores the importance of families making personal, private decisions without political interference," said Nancy Keenan, president of Naral Pro-Choice America, in a statement. "The decision should be with women, their families, and their doctors."

But as more tests become available for conditions that do not involve serious disabilities, childhood diseases or death in early childhood, the emerging ethical questions may inject more nuance into a perennially polarized discussion.

"It will capture where the mainstream of Americans are on prenatal testing and abortion," Dr. Caplan added. "Which is, some reasons seem good, and some don't."

Traditional anti-abortion advocates, from conservative politicians to Pope Benedict, have in recent months criticized the growing use of prenatal testing as a subtle form of eugenics. But the specter of fetuses being selectively targeted for elimination also has the potential to disturb solid supporters of abortion rights.

Some disabilities rights advocates, for example, are pressing the need to reconcile protecting abortion rights with a democratic imperative to embrace human diversity.

"If the response is simply, 'You all are just anti-women's-right-to-choose,' I think that misses some of the important disabilities rights issues that are being raised," said Andrew Imparato, president of the American Association of People With Disabilities.

Mr. Imparato said he was disturbed to learn recently that in several states with legislative efforts to restrict abortion rights, groups like Planned Parenthood often lobby for an exemption for women who learn their child would have a disability.

But he said that the person who alerted him was a Planned Parenthood lobbyist who was herself troubled by the tactic because it seemed to run counter to the progressive political agenda that supports both choice and tolerance of human difference.

"You've got these two basic liberal values on a kind of collision course," said Rayna Rapp, an anthropologist at New York University who has studied attitudes toward prenatal testing.

Ms. Rapp argues that it doesn't need to be that way. One solution, she said, is to make sure the world is a more welcoming place for people with disabilities. Other disabilities rights advocates emphasize the need to educate prospective parents about the positive aspects of raising disabled children.

Still, social policy may be unable to sway a seemingly strong personal preference for avoiding children with perceived genetic defects. About 90 percent of women who learn they are carrying a fetus with the extra 21st chromosome that causes Down syndrome choose an abortion. Studies have shown that many women choose to abort for diagnoses of less serious conditions.

And a growing number of fertile couples are using in vitro fertilization to gain greater control over the genetic makeup of their children. Under a procedure known as preimplantation genetic diagnosis, doctors screen embryos for a high risk of developing breast cancer or arthritis, and implant only embryos with the desired genetic makeup.

The questions may only become murkier if testing extends to traits like homosexuality or intelligence.

But Kirsten Moore, president of the pro-choice Reproductive Health Technologies Project, said that when members of her staff recently discussed whether to recommend that any prenatal tests be banned, they found it impossible to draw a line - even at sex selection, which almost all found morally repugnant. "We all had our own zones of discomfort but still couldn't quite bring ourselves to say, 'Here's the line, firm and clear' because that is the core of the pro-choice philosophy," she said. "You can never make that decision for someone else."

The rhetoric of "choice," however, can take on a more troubling resonance when it comes to selecting children with new reproductive technologies, disabilities rights advocates say. "It so buys into this consumer perspective on our children," said Marsha Saxton, a senior researcher at the World Institute on Disability in Oakland, Calif., who is an abortion rights supporter.

With a new, more conservative Supreme Court, which has just upheld a law banning a procedure critics call partial-birth abortion, disabilities rights advocates say they fear that the reproductive rights movement sees such discussions only as an opening to abortion opponents.

"The fear is that this will be used as an excuse to limit women's access to abortion," said Sujatha Jesudason, associate director of the Center for Genetics and Society, a nonprofit group promoting limits on reproductive technology. "But as these selective technologies are getting popularized we need to try to agree on a set of principles without giving up the fight for reproductive rights."

If that doesn't happen, some abortion rights supporters say they are worried that their opponents may hijack the discussion.

"Some religious conservatives say that they trust God to give them the child that is meant to be," wrote Ann Althouse, a law professor in Madison, Wis., who identifies herself as an abortion rights supporter on her legal blog. "But isn't there something equivalent for social liberals? Shouldn't they have moral standards about what reasons are acceptable for an abortion?"

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Abortion - Genetic Testing - Women's Health

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"How much choice do you really want to give?" asked Arthur Caplan, chairman of the department of medical ethics at the University of Pennsylvania School of Medicine. "That's the challenge of prenatal testing to pro-choicers."

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What is the cost of pre-natal screening? -Ka

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What is the cost of pre-natal screening? -Ka

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Pre-natal screening through the pre-natal screening program cost between $600-7200

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When you're pregnant, you should have regular prenatal visits with a medical provider, usually an obstetrician, a midwife or your family practitioner. Besides measuring your blood pressure, weight, abdomen size and fetal heart rate, the doctor might order tests to screen for potential pregnancy problems or birth defects.Some of these tests are recommended for all pregnant women as part of preventive prenatal care, and should be fully covered by insurance, with no cost to you. These include routine screenings for gestational diabetes, anemia, bacteria in your urine, and a number of sexually transmitted infections.

Other tests are available to look for chromosomal abnormalities or other problems with the pregnancy. Depending on your insurance plan specifics, you may have to help cover their cost. Below, you'll find information about some the most common tests women get during pregnancy:

First Trimester Prenatal Screening Tests

What are they?

A combination of an ultrasound and a blood test, each looking at specific factors that can indicate the presence of a birth defect. The ultrasound is performed between 11 and 14 weeks and will measure the back of your baby's neck, among other parts of the anatomy. A thickening or fluid build up there may suggest Down syndrome. A blood test measures the hormone, human chorionic gonadotropin (hCG), and a protein from the placenta. Abnormal levels of either can indicate a chromosomal abnormality.

Who gets it?

It's generally offered to all pregnant women.

How much do the first trimester prenatal screening tests cost?

The costs vary by healthcare provider and insurance provider, but should fall into a typical range for blood tests and pregnancy ultrasounds. Healthcare Bluebook, a company that offers information on medical pricing, suggests a fair price for the hCG test is $39, for example. The cost of a fetal ultrasound is usually around $280. However, women have reported bills as high as $600 for these screenings, so check with your provider about the costs if you'll be footing the bill.

What will you pay?

If you're uninsured, you're responsible for the entire amount. If your insurer classifies these tests as routine prenatal care, they may be covered with no cost to you. Otherwise, your share of the payment is determined by the structure of your insurance plan. For example, you might have a $25 co-pay for laboratory tests (the bloodwork), and a $75 co-pay for radiology procedures (the ultrasound.) Or you might be responsible for all costs up to your deductible, and a percentage of them after that, until you reach your out-of-pocket maximum for the year.

Second Trimester Prenatal Screening Tests

What are they?

Prenatal screen tests that are common during the second trimester include: blood tests for things like alpha-fetoprotein (AFP), hCG, Estriol, and Inhibin. Abnormal results may mean you need additional testing.

Who gets it?

These are typically offered to all pregnant women.

How much second trimester screening tests cost:

A fair price for the AFP test is $43, according to HealthCare Bluebook. For Estriol, it's $63. Check with your healthcare provider and/or your insurance plan to find out what it will cost you.

What will you pay?

Uninsured women will be responsible for the entire amount. If the tests are considered routine prenatal care by your insurer, they may be covered with no cost to you. Otherwise, your cost will depend on how your plan is set up. You might have a co-pay for the bloodwork, even if you've already reached your deductible. However, you should never have to pay more than your out-of-pocket maximum, as long as you get your services in-network.

Chorionic Villus Sampling (CVS)

What is it?

Between the 10th and 12th week of pregnancy, a doctor takes a small sample of placental tissue. It has the same genetic make-up as the fetus, and can be examined for chromosomal abnormalities, but not for neural tube defects. (For that, you may need an amniocentesis.)

Who gets it?

Women at risk of chromosomal abnormalities like Down Syndrome, and those who have a specific genetic disease in their family history like Tay-Sachs or Cystic Fibrosis. CVS allows an earlier diagnosis of this type of problem, compared to amniocentesis.

How much does CVS cost?

Women have been quoted prices between $1,300 and $4,800.

What will you pay?

What will you pay? Your health insurance may cover chorionic villus sampling if you have certain risk factors, like older age or a family history of certain genetic diseases, though you might have to help pay its costs.You may also need to get prior authorization from the insurance company. The test can result in various fees, including for the physician, the lab, and the procedure, and your portion will depend on your insurance plan.

Amniocentesis

What is it?

In this procedure, which is usually performed after 15 weeks of pregnancy, a small needle is inserted through the abdomen to obtain a sample of amniotic fluid. Cells in the fluid are checked for chromosomal problems or open neural tube defects. They can also be checked for specific genetic abnormalities, based on the family's history.

Who gets it?

Pregnant women at increased risk for any chromosomal abnormalities in their fetus, such as women over 35, those with a family history of certain genetic diseases, or those who had abnormal screening tests earlier in their pregnancy.

How much does an amniocentesis cost?

Women report quotes for an amniocentesis between $1000 and $7200.

What will you pay?

Most insurance plans will cover the test if you have risk factors for chromosomal abnormalities in your baby, but you might have to help pay for the costs. Some insurers require prior authorization for an amniocentesis, so it's best to call the number on the back of your card to find out the specifics. An amniocentesis can lead to various bills, like for physician fees, procedure fees, and lab fees. Your portion will depend on your insurance plan. Without insurance, you'd be responsible for the entire cost.

Other Common Tests During Pregnancy

Other tests a pregnant woman might need include genetic tests, a group B strep culture, fetal monitoring, or a 24-hour urine test for preeclampsia. As with the other examples, her costs will depend on whether or not she has insurance, how much her provider bills for them, and how her insurance covers them.

While more plans are charging more of the costs of care to the insured patient in recent years-average deductibles for both in- and out-of-network care have more than doubled since 2009, according to the Advisory Board-some still have generous coverage for pregnancy.

Women who've been pregnant in recent years, especially those who are insured through large employers, have reported relatively reasonable co-pays and other out-of-pocket costs. Still, read your own plan literature closely, and make a careful selection when you choose a health insurance plan, if pregnancy costs are in your future.

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When you're pregnant, you should have regular prenatal visits with a medical provider, usually an obstetrician, a midwife or your family practitioner. Besides measuring your blood pressure, weight, abdomen size and fetal heart rate, the doctor might order tests to screen for potential pregnancy problems or birth defects.Some of these tests are recommended for all pregnant women as part of preventive prenatal care, and should be fully covered by insurance, with no cost to you.

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Statistics on how the results affect the pregnancy outcome. -GE

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Statistics on how the results affect the pregnancy outcome. -GE

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GBS or Group B Strep can cause harmful infections in the baby during birth.

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

A screening test can only provide your risk, or probability, that a particular condition exists. When the results of a screening test are positive, diagnostic tests can provide a definitive answer.

Some prenatal screening tests are routine procedures, such as glucose tolerance tests, which check for gestational diabetes. Women who have a higher risk of having a child with certain conditions are usually offered additional screening tests. For example, pregnant women who've lived in regions where tuberculosis is common should have a tuberculin skin test.

First trimester screening tests can begin as early as 10 weeks. These usually involve blood tests and an ultrasound. They test your baby's overall development and check to see if your baby is at risk for genetic conditions, such as Down syndrome. They also check your baby for heart defects, cystic fibrosis, and other developmental problems.

Second trimester screening tests occur between 14 and 18 weeks. They can involve a blood test, which tests whether a mother is at risk for having a child with Down syndrome or neural tube defects, as well as an ultrasound.

Ultrasound

An ultrasound uses sound waves to create an image of the baby in the uterus. The test is used to determine the size and position of your baby, confirm how far along you are in your pregnancy, and find any potential abnormalities in the structure of your baby's growing bones and organs.

A special ultrasound called a nuchal translucency ultrasound is performed between the 11th and 14th weeks of pregnancy. This ultrasound checks the accumulation of fluid at the back of your baby's neck. When there's more fluid than normal, this means there's a higher risk of Down syndrome.

During the second trimester, a more detailed ultrasound, which is often called a fetal anatomy survey, is used to evaluate the baby carefully from head to toe for any birth defects. However, not all birth defects are visible by ultrasound.

Early Blood Tests

During the first trimester, two types of blood tests called a sequential integrated screening test and a serum integrated screening are conducted. They're used to measure the levels of certain substances in your blood, namely, pregnancy-associated plasma protein-A and a hormone called human chorionic gonadotropin. Abnormal levels of either mean there's a higher risk of a chromosome abnormality.

At your first prenatal visit, your blood may also be tested to see if you're immunized against rubella and to screen for syphilis, hepatitis B, and HIV.

A blood test will also be used to determine your blood type and Rh factor, which determines your Rh compatibility with your growing fetus. You can be either Rh-positive or Rh-negative. Most people are Rh-positive, but if a mother is found to be Rh-negative, her body will produce antibodies that will affect any subsequent pregnancies.

When there's an Rh incompatibility, most women will be given a shot of Rh-immune globulin at 28 weeks and again a few days after delivery. Incompatibility occurs if a woman is Rh-negative and her baby is Rh-positive. If the woman is Rh-negative and her baby's positive, she'll need the shot. If her baby is Rh-negative, she won't.

Chorionic Villus Sampling

Chorionic villus sampling is an invasive screening test that involves taking a small piece of tissue from the placenta. It's usually performed between the 10th and 12th weeks and is used to test for genetic abnormalities, like Down syndrome, and birth defects. There are two types. One type tests through the belly, which is called a transabdominal test, and one type tests through the cervix, which is called a transcervical test.

Testing has some side effects, like cramps or spotting. There's also a small risk of miscarriage.

Blood Tests

A quad marker screening test is a blood test conducted during the second trimester. It's done to test your blood for indications of birth defects, such as Down syndrome. It measures four of the fetal proteins.

A quad marker screening is typically offered if you start prenatal care too late to receive either the serum integrated screening or the sequential integrated screening. It has a lower detection rate for Down syndrome and other birth defects than a sequential integrated screening test or serum integrated screening test.

Glucose Screening

A glucose screening test checks for gestational diabetes. This is usually a condition that can develop during pregnancy. It's usually temporary. Gestational diabetes can increase your potential need for a caesarean delivery because babies of mothers with gestational diabetes are usually born larger. Your child may also have low blood sugar in the days following delivery.

The test is usually performed during the second trimester. It involves drinking a sugary solution, having your blood drawn, and then checking your blood sugar levels. If you do test positive for gestational diabetes, you have a higher risk of developing diabetes within the following 10 years, and you should get the test again after the pregnancy.

Amniocentesis

During amniocentesis, amniotic fluid is removed from the uterus for testing. Amniotic fluid surrounds the baby during pregnancy. It contains fetal cells with the same genetic makeup as the baby, as well as various chemicals produced by the baby's body. There are several types of amniocentesis.

A genetic amniocentesis tests for genetic abnormalities, such as Down syndrome and spina bifida. A genetic amniocentesis is usually performed after week 15 of the pregnancy. It may be considered if:

a prenatal screening test showed abnormal results

you had a chromosomal abnormality during a previous pregnancy

you're 35 or older

you have a family history of a specific genetic disorder

you or your partner is a known carrier of a genetic disorder

Amaturity amniocentesis is performed later, during the third trimester, to determine whether or not your baby's lungs are ready for birth. This diagnostic test is only done if a planned early delivery through either induction of labor or a cesarean delivery is being considered for medical reasons. It's usually done between weeks 32 and 39.

Group B Strep Screening

Group B Streptococcus (GBS) is a type of bacteria that can cause serious infections in pregnant women and newborns. GBS is often found in the following areas in healthy women:

GBS in the vagina generally isn't harmful to a woman regardless of whether she's pregnant. However, it can be very harmful to a newborn baby who doesn't yet have a robust immune system. GBS can cause serious infections in babies exposed during birth. You can be screened for GBS with a swab taken from your vagina and rectum at 35-37 weeks.

If you test positive for GBS, you'll receive antibiotics while you're in labor to reduce your baby's risk of contracting a GBS infection.

Diagnostic tests are the next step after a screening test that yields a positive result. They leave virtually no doubt as to the existence or absence of certain birth defects.

Diagnostic tests are more invasive than screening tests. They're usually only done if there's a specific concern, if a screening test indicates a problem, or if your age, family history, or medical history suggests that you may have an increased risk for a problematic pregnancy. Diagnostic tests can carry a very small risk of miscarriage.

Prenatal screening tests can be an important source of information for many people. While many of these tests are routine, some can be a much more personal decision. Talk to your doctor about your concerns if you're not sure if you should be screened or if you're feeling anxious. You can also ask to be referred to a genetic counselor. Your healthcare team can discuss the risks and benefits with you and help you decide whether prenatal screening is right for you.

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Prenatal Screening Tests: Types, Diagnosis, and Takeaways

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

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How many types of screenings are available? -Sz 

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How many types of screenings are available? -Sz 

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There are over twenty types of pre-natal screenings, like integrated screenings, amniocentesis and chronic villus sampling

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When you're pregnant, prenatal tests give you information about your health and your baby's. They help detect any problems that could affect him, like birth defects or genetic diseases. The results can help you make the best health care decisions before and after your child is born.

Prenatal tests are helpful, but it's important to know how to interpret what they find. A positive test result doesn't always mean your baby will be born with a disorder. You'll want to talk with your doctor, midwife, or other health care provider about what the tests mean and what you should do once you have the results.

Doctors recommend some prenatal tests for all pregnant women. Only some women will need other screening tests to check for certain genetic problems.

Routine Prenatal Tests

There are different prenatal tests you can get in your first, second, and third trimester. Some check your health, and others get information about your baby.

Throughout your pregnancy, you'll get routine exams to make sure you're healthy. Your health care provider will check samples of your blood and urine for certain conditions, including:

She'll also check your blood type and whether your blood cells have a protein called the Rh factor. You may also get:

Group B Strep screening. Your doctor will swab the skin in and around your vagina to check for this type of bacteria. This usually happens in the last month before you give birth.

Ultrasound. This technology uses sound waves to make pictures of your baby and your organs. If your pregnancy is normal, you'll have it twice, once near the beginning to see how far along you are, and the second time around 18-20 weeks to check your baby's growth and make sure his organs are developing properly.

Prenatal Genetic Tests

Doctors also can use prenatal tests to look for signs that your baby is at risk for certain genetic disorders or birth defects. You don't have to have these tests, but your doctor may suggest some to make sure your baby is healthy.

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They're especially important for women who have a higher risk of having a baby with a birth defect or a genetic problem.This is you if you:

Some prenatal genetic tests are screening tests. They tell you if your baby has a higher risk of having a certain disorder or disease, but they can't tell you for certain that he'll be born with it. Other "diagnostic" tests will give you a more definite answer. Usually, you'll get this kind after you have a positive result on a screening test.

To start, your doctor may want to test you and the child's other parent for the genes that cause certain genetic diseases, like cystic fibrosis, Tay-Sachs disease, sickle cell disease, and others. If both of you have a gene for one of these diseases in your DNA, you could pass it on to your baby, even if you don't have the disease itself. The exam is called a carrier test.

Your doctor can use one or more different screening tests to check your baby for a genetic problem, including:

Ultrasound. You'll already have one of these early in your pregnancy to make sure everything is going well. But if you have a high-risk pregnancy, you'll need this exam more often. Around 11-14 weeks, doctors can use it to look at the back of your baby's neck. Folds or thick skin there could mean a higher risk of Down syndrome. Your doctor also may take a sample of your blood at the same time.

Integrated Screening. There are two phases to this test. In the first part, doctors combine the results of the ultrasound looking at your baby's neck and the blood tests you got at 11-14 weeks. Then, they'll take a second blood sample between 16-18 weeks. The results measure your baby's risk for Down syndrome and spina bifida, a spinal cord and brain disorder.

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Sequential Screen. This is similar to integrated screening, but your doctor reviews the results with you right after the first phase at 11-14 weeks. It's not as accurate as the longer test, but it lets you know your baby's risk earlier. If the screening finds there may be a problem, your doctor will use more tests to find out for sure. If it doesn't find a risk, you'll most likely get the second blood test at 16-18 weeks to be safe.

Triple or quadruple screening test. Doctors check your blood for hormones and proteins that come from your baby or your placenta, the organ that brings him oxygen and nutrients. The test can look for three different substances (triple screening) or four (quadruple screening). Certain amounts of these mean your baby has a higher chance of having a birth defect or a genetic disease. This test happens in the second trimester, usually at 15 to 20 weeks.

Cell-free fetal DNA testing. Doctors use this test to find your baby's DNA in your blood and check it for Down syndrome and two other genetic conditions, trisomy 18 and trisomy 13. You can have this done after 10 weeks of your pregnancy. Doctors don't recommend it for every woman, usually only those who have a high-risk pregnancy. It's not available everywhere, and some health insurance policies don't cover it. Talk to your doctor about whether you need this test.

Other Tests

If you get a positive result on a screening, your doctor can use other tests to look for a problem.

Amniocentesis. Using a thin needle in your belly, your doctor will take a sample of the fluid that surrounds your baby and check it for genetic disorders or birth defects. The procedure does carry some risk. About 1 in 300 to 500 women will miscarry because of amniocentesis. Your doctor can tell you if it's important for you to have this.

Chorionic villus sampling (CVS). Doctors take a small piece of your placenta by putting a needle through your belly or a small tube up your vagina. They test the sample for Down syndrome and other genetic conditions. Only some high-risk women will need this test, usually if a screening found a risk of a birth defect. The procedure will tell you for sure if there's a problem, but it also comes with a risk of miscarriage that's similar to amniocentesis. Talk to your doctor about whether you should have CVS.

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What Do I Do Once I Have the Results?

Prenatal test results can help you make important health care decisions. But it's important to remember that many of them tell you it's possible, but not certain, that your baby will be born with a disorder. No test is 100% accurate.

Talk to your doctor about the results you get and what they mean. A genetics counselor can also help you decide what to do after a positive result and what life will be like for your child if he has a disorder.

Questions for Your Doctor

If your doctor recommends prenatal testing, consider asking:

Why do I need these tests?

What will the results tell me? What will they not show?

What happens if I don't get the test?

What will I do with the results?

How accurate are the tests?

What are the risks?

How long will it take to get the results?

What does it feel like?

How much do they cost?

Will my insurance cover them?

Will anyone else (like my insurance company) have access to the results, especially of genetic tests?

What will the results mean for my family?

Can I decide not to get the results even if the test has already been done?

Where do I get the tests done?

Sources

SOURCES:

March of Dimes: "Prenatal Care."

Neil Seligman, MD, University of Rochester Medical Center.

Kids Health from Nemours: "FAQs: Prenatal Tests."

American College of Obstetricians and Gynecologists: "Frequently Asked Questions- Routine Tests in Pregnancy."

Cleveland Clinic: "Maternal-Fetal Medicine (High-Risk Pregnancy).

Johns Hopkins Medicine: "Common Tests During Pregnancy."

Ryan E. Longman, MD, University of Miami, Miller School of Medicine.

Eunice Kennedy Shriver National Institute of Child Health and Human Development: "How do health care providers diagnose birth defects?"

Cystic Fibrosis Foundation: "About CF: What Is Cystic Fibrosis?"

Eunice Kennedy Shriver National Institute of Child Health and Human Development: "The Placenta: A Vital Organ for Baby, Mom and Science."

University of California San Francisco Medical Center: "FAQ: Cell-Free Fetal DNA Testing."

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When you're pregnant, prenatal tests give you information about your health and your baby's. They help detect any problems that could affect him, like birth defects or genetic diseases. The results can help you make the best health care decisions before and after your child is born.

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Californias pre-natal screenings focus on the babies birth defects while the mother is still pregnant. The testings that are mandated by the state is quad marker screening, serum integrated screening, and sequential integrated screening.