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Depending on the specific tests being done in the process of being pregnant, it can range from 200-7,200 dollars. Your health care provider for majority of the time pays a decent amount for the tests but it may be more expensive for some women than others. The more in the depth the doctor recommends to proceed with the tests or if a high risk pregnancy is in occurrence it will be more costly.

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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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A high risk pregnancy involves the mother possessing a medical condition before carrying a fetus or the medical issue can be formed during the pregnancy. Some examples are diabetes, smoking, drinking, past medical history, and older than 35 can all have a major impact on the baby and proper screenings are highly encouraged. The screenings advised are targeted ultrasounds in the uterus, amniocentesis, chronic villus sampling, cordocentesis , and cervical length measurements. Cordocentesis is a test regarding umbilical blood samples derived from the umbilical cord and can help discover blood disorders or infections.

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High-risk pregnancy: Know what to expect

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Find out how a high-risk pregnancy might be monitored and what you can do to ease anxiety.

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A procedure where amniotic fluid , that is acquired between fifteen and seventeen months, is studied or observed. The chromosomes and cells in the fluid are analyzed to determine if conditions, including down syndrome or genetic disorders, are present and this examination is carried out by an ultrasound in addition to detecting the placenta. A needle is then injected into the women's abdominal and inserted in the wall , leading to the amniotic fluid. A tiny measurement of the fluid is removed and a short amount of time afterwards, the results from the analysis is given.

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Learn about common prenatal tests and when they're usually performed.

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Nuchal Translucency screening is a test conducted to investigate the presence of down syndrome. This procedure is an advanced ultrasound that focuses on a fold of skin towards the back of the neck called the nuchal area and can be executed between 11-1/2 and 13 weeks.

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Learn about common prenatal tests and when they're usually performed.

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Women that use prenatal testing run the risk of, although small but very important, losing their pregnancy. More common risks are emotional and social risks such as if they're not happy with the test's results. If a test comes up positive for down syndrome, that could cause the woman to think about aborting the child or cause anxiety about how to raise this child and finically support it as well.

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The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a method that samples cells from the inside surface of the cheek). The procedures used for prenatal diagnostic testing (called amniocentesis and chorionic villus sampling) carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.

Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern. (Refer to What is genetic discrimination? for additional information.)

Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.

A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.

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What are the risks and limitations of genetic testing?: MedlinePlus Genetics

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There are different kinds of risks involved with genetic testing. These include physical, emotional, social, or financial. Learn more about these concerns.

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Alpha-fetoprotein screening  is a blood test that measures the alpha-fetoprotein in the mothers' blood during pregnancy. This is a protein normally produced by the  liver of the baby and is present in the amniotic fluid, and crosses the placenta into the mother's blood. The AFP blood test is called maternal serum AFP (MSAFP) . AFP can also be measured in the amniotic fluid (AFAFP). Abnormal levels of AFP may signal the following: Open neural tube defects (ONTD), such as spina bifida, Down syndrome,  chromosomal abnormalities, Defects in the abdominal wall of the fetus, Twins--more than one fetus is making the protein , A miscalculated due date, as the levels vary throughout pregnancy

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Unborn babies normally make alpha-fetoprotein (AFP), and it shows up in their mother's blood. Checking the level of AFP in a mom-to-be can show if their baby may have problems with their neural tube, what will become the brain and spinal cord.

AFP is one of the blood tests you have in a quad screen. You can choose to get an AFP test or not. A genetic counselor can help you decide. In addition, a high quality second trimester ultrasound may pick up more neural tube defects than AFP alone

How It's Done

You do a maternal serum alpha-fetoprotein test when you're about 4 months pregnant.

A technician uses a needle to take a small sample of blood from a vein in your hand or arm. You may feel a small skin prick and have a little bruising or bleeding where the needle goes in. Then they'll send your blood to the lab.

What the Results Mean

A negative or normal test usually means your baby likely does not have genetic abnormalities related to the neural tube.

A positive test with a high AFP suggests a birth defect like spina bifida. That's typically a result of 2.5 times or more than the "average" level of AFP you'd expect to see at that point in your pregnancy.

A positive test with low AFP could mean a problem like Down syndrome or Edwards syndrome.

Don't worry if your test isn't normal. AFP only tells you there's a chance for a problem, not that there is one.

High AFP could mean you're further along than you thought. It peaks at 28-32 weeks then starts falling. Your baby may make more AFP than normal, or you could be having twins (two babies make more AFP than one). Other things, including your race, weight, and having diabetes, can also affect your result.

What Happens Next

Sometimes you can get a false positive. That means the test says something's wrong when it's not. Your doctor will probably want to double-check your results. Another test often shows your baby is healthy.

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Unborn babies normally make alpha-fetoprotein (AFP), and it shows up in their mother's blood. Checking the level of AFP in a mom-to-be can show if their baby may have problems with their neural tube, what will become the brain and spinal cord. AFP is one of the blood tests you have in a quad screen.

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The quadruple maker is a blood test that predicts the likely hood of problems occurring but doesn't diagnose the problem. (Ex: test for high cholesterol doesn't mean heart disease ,but higher possibletly of it. It also screens for neural tube defects and genetic disorders. These tests are and can only be performed between 15-20 weeks . The blood is tested for four substances found in the babies blood,brain,amniotic fluid and spinal fluid (AFP, UE, hCG, Inhibin-A).

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The quad marker screen is a blood test that provides useful information about a pregnancy. It can help estimate your baby's risk of Down syndrome, Edward's syndrome (trisomy 18), and neural tube defects.

The test predicts the likelihood of a problem. It does not diagnose the problem. The quad marker screen determines if a woman is at higher or lower risk of carrying a baby with a birth defect. This means that some women with healthy babies will have screening results indicating a possible problem (and will be offered appropriate follow-up testing), while some women whose babies have birth defects will go undetected.

Because of the uncertainties surrounding the test result, you can opt to not have it. Talk to your doctor about the pros and cons of taking this test before you make a decision.

The quad marker screen has replaced an earlier test, the triple screen, in the U.S. Doctors sometimes combine the results of the quad test with the first trimester screening. This is called integrated or sequential screening. It's more accurate than either test by itself.

The expected amount of these substances normally found in the mother's bloodstream changes weekly during pregnancy, so it is important to tell your doctor how far along you are in your pregnancy. High AFP levels may indicate that the baby has an open neural tube defect. High AFP levels may also indicate that the baby is older than was thought or that the woman is expecting twins. Lower than normal AFP levels could indicate that a woman is at higher risk for having a baby with Down syndrome.

Levels of hCG and Inhibin-A are higher than normal when a woman has an increased risk of having a baby with Down syndrome. Lower than normal levels of estriol (a hormone) may also indicate that a woman is at high risk for having a baby with Down syndrome.

Is the Quad Marker Screen Safe?

Yes. The quad marker screen is a safe and useful screening test for families concerned about birth defects or genetic diseases. It is a test that carries no risk to the baby, since a blood sample is taken only from the mother.

What Does It Mean if the Quad Marker Screen Results Are Normal?

Normal levels of AFP, estriol, hCG, and Inhibin-A strongly indicate that you have a healthy pregnancy and a healthy baby. In over 98% of pregnancies, normal quad marker screen results predict healthy babies and births without major complications. However, there are no prenatal tests that can guarantee your baby and pregnancy will be completely healthy or without complications.

What Does It Mean if the Quad Marker Screen Results Are Abnormal?

Quad marker screen results that are not in the normal range do not necessarily mean there is a problem in your pregnancy.

The quad marker screen is used as a screening tool only, which means it can only assess your risk of having a baby with certain birth defects (it is not used to diagnose the particular problem that may be present). If the quad marker screen results are not in the normal range, further tests such as an ultrasound or amniocentesis may be necessary.

Out of 1,000 pregnant women, approximately 50 will have quad marker screen results that indicate an increased risk for having a baby with a birth defect. Of those 50 women, only one or two will actually have a baby with an open neural tube defect. About 40 women will have quad marker screen results that show an increased risk for having a baby with Down syndrome and one or two will actually have a baby with Down syndrome.

What Happens During the Quad Marker Screen?

During the quad marker screen, a sample of blood is taken from your vein. Substances in the blood sample are measured to screen for:

Problems in the development of the fetus's brain and spinal cord, called open neural tube defects; the quad marker screen can predict approximately 75%-80% of open neural tube defects.

Genetic disorders such as Down syndrome, a chromosomal abnormality; the quad marker screen can predict approximately 75% of Down syndrome cases in women under age 35 and over 80% of Down syndrome cases in women age 35 years and older.

You should have the results in a few days.

When Should I Get a Quad Marker Screen?

Your doctor may offer you a quad marker screen between 15 and 22 weeks of pregnancy. The test can only be performed during this timeframe but is most optimally performed between 16 and 18 weeks.

What Does a Quad Marker Screen Measure?

The blood sample is sent to a laboratory and tested for the presence of the following four things that are normally found in the baby's blood, brain, spinal fluid, and amniotic fluid:

Alpha-fetoprotein (AFP): A protein produced by the baby's liver and other organs

Unconjugated e striol (UE): A protein produced in the placenta and in the baby's liver

Human c horionic g onadotropin (hCG): A hormone produced by the placenta

Inhibin-A: A hormone produced by the placenta

Should I Have the Quad Marker Screen?

It is recommended that all pregnant women have a quad marker screen, but it is your decision whether or not to have the test. However, if you have any of the following risk factors, you may strongly want to consider having the test:

You are age 35 or older when the baby is due

Your family has a history of birth defects

You've had a child with a previous birth defect

You were diagnosed with type 1 diabetes prior to your pregnancy

If you have any concerns about the test, talk to your doctor.

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The quad marker screen is a blood test that provides useful information about a pregnancy. It can help estimate your baby's risk of Down syndrome, Edward's syndrome (trisomy 18), and neural tube defects. The test predicts the likelihood of a problem. It does not diagnose the problem.

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First trimester screening are new, optional and non-invasive blood tests preformed between 11-13 weeks of pregnancy .  It focuses on testing for fetal abnormalities (down syndrome, cardiac disorders, etc), abnormally high or low HGC and PAPP-A . Screening this early has about 85% accuracy with a false rate of 5%. 85 out of 100 children with abnormalities are identified by these tests. Positive results don't equate abnormalities, it just prompts further testing. These tests are all mainly blood tests and shouldn't be confused with second trimester tests. These screenings  compare other factors like age and ethnicity ,with the blood tests to estimate the likely hood of having an abnormality. There is no side affects to these tests .

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The First-Trimester Screening is an early optional non-invasive evaluation that combines a maternal blood screening test with an ultrasound evaluation of the fetus to identify risks for specific chromosomal abnormalities, including Down Syndrome Trisomy-21 and Trisomy-18.

In addition to screening for these abnormalities, a portion of the test (known as the nuchal translucency) can assist in identifying other significant fetal abnormalities, such as cardiac disorders. The screening test does not detect neural tube defects.

What is a first trimester screening test?

It is very important to remember what a screening test is before getting one performed. This will help alleviate some of the anxiety that can accompany test results. Screening tests do not look only at results from the blood test. They compare a number of different factors (including age, ethnicity, results from blood tests, etc...) and then estimate what a person's chances are of having an abnormality.

These tests DO NOT diagnose a problem; they only signal further testing should be done.

How is the first-trimester screen performed?

The blood screen involves drawing blood from the mother, which takes about 5 to 10 minutes. The blood sample is then sent to the laboratory for testing. The ultrasound is performed by an ultrasound specialist or perinatologist and takes between 20 and 40 minutes. The results are evaluated within a week of the testing.

What are the risks and side effects to the mother or baby?

Except for the discomfort of drawing blood, there are no known risks or side effects associated with the First Trimester screen. There is a 5% false-positive rate for the test. Parents should be aware of the possibility of receiving abnormal results and then finding, after further testing, the baby is normal.

Why you might consider this test

One advantage to having First Trimester Screening is that you will have information about your risk for Down syndrome and trisomy 18 earlier in the pregnancy than you would with the standard Maternal Serum Screening. While both First Trimester and Maternal Serum Screening can test for Down syndrome and trisomy 18, Maternal Serum Screening can also test for neural tube defects.

When is the first-trimester screen performed?

The First Trimester Screen is performed between the 11th and 13th week of pregnancy. Because the test is performed so early, it is often used to determine whether a mother should consider undergoing an early (first-trimester) diagnostic test, such as chorionic villus sampling, or second-trimester amniocentesis.

What does the first-trimester screen look for?

In babies who are at an increased risk for chromosomal abnormalities, increased fluid is often found in the nuchal translucency. Abnormally high or low hCG and PAPP-A levels are also often found. The first-trimester screen combines the results from these three measurements (nuchal translucency, hCG, and PAPP-A) with maternal age risk factors and determines an overall risk factor for chromosomal abnormalities.

What do the results mean?

It is important to remember the first-trimester screen is a screening test and not a diagnostic test. This test only notes a mother is at risk of carrying a baby with a genetic disorder. Many women who experience an abnormal test discover later the test proved false.

You will not be given specific quantitative values for the separate parts of the First Trimester screen. Instead, you will be told whether your results are "normal or abnormal", and you will be given a risk level by your genetic counselor. The counselor will give you your risk factor for chromosomal abnormalities based on the test results (for example 1/250, 1/1300).

Abnormal test results warrant additional testing for making a diagnosis. Your genetic counselor will discuss the results with you and assist you in deciding about diagnostic tests, such as CVS or amniocentesis. These invasive procedures should be discussed thoroughly with your healthcare provider and between you and your partner. Additional counseling may prove helpful.

What are the reasons for further testing?

First Trimester Screening will help find about 84 percent, or 5 out of every 6, babies with Down syndrome, and about 80 percent, or 4 out of every 5, babies with trisomy 18.

Down syndrome, also called trisomy 21, is caused by an extra chromosome in the developing baby. It causes mental retardation and serious heart problems. One baby out of every 600 is born with Down syndrome. Although having a baby with Down syndrome occurs more often to women who are older, it can happen at any age.

Trisomy 18 is caused by an extra chromosome in the developing baby. Few babies with trisomy 18 survive to birth. One baby in every 6,000 is born with trisomy 18. Trisomy 18 causes mental retardation, heart defects, very poor growth, and other problems.

Performing further testing allows you to confirm a diagnosis and then provides you with certain opportunities:

Pursue potential interventions that may exist (i.e. fetal surgery for spina bifida)

Begin planning for a child with special needs

Start addressing anticipated lifestyle changes

Identify support groups and resources

Make a decision about carrying the child to term

Some individuals or couples may elect not to pursue testing or additional testing for various reasons:

They are comfortable with the results no matter what the outcome

Because of personal, moral, or religious reasons, making a decision about carrying the child to term is not an option

Some parents choose not to allow any testing that poses any risk of harming the developing baby

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

Want to Know More?

Compiled using information from the following sources:

1. Dartmouth-Hitchcock Obstetrics

2. New England Journal of Medicine, Volume 349, Number 15, October 2003, First-Trimester Screening for Trisomies21 and 18

3. National Down Syndrome Society

4. Nemours Foundation

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The First-Trimester Screening is an early optional non-invasive evaluation that combines a maternal blood screening test with an ultrasound evaluation of the fetus to identify risks for specific chromosomal abnormalities, including Down Syndrome Trisomy-21 and Trisomy-18.

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Nuchal Translucency screening is a test conducted to investigate the presence of down syndrome.

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Different Types of Screening:Ultrasound GD

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Different Types of Screening:Ultrasound GD

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An ultrasound utilizes a transducer , an electric machine that converts energy, and is placed on the abdomen of the pregnant woman. The sound waves are applied on the fetus and the echos of the waves transforms into a visual representation of the baby's organs, infostructure, and limbs. The purpose of an ultrasound is to examine deeper into birth defects, numerical amount of babies, the growth, the location of the placenta and it's position which is all implemented onto a viewing screen.

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Learn about common prenatal tests and when they're usually performed.

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One controversy with getting a prenatal screen is what the parent(s) will do with that information. For example, if a baby is diagnosed with down syndrome, that may cause the parent to end the pregnancy. In another case, a parent might yield that information to prepare treatment and care for that unborn child. Another controversy is that prenatal screenings aren't always accurate and can vary from test to test. If parents don't have insurance, they must be willing to pay the expenses for those test results. But in a case where a family without insurance opts out of a screening, they won't know if she has a miscarriage until she gets that test.

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Prenatal testing: Is it right for you?

Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's health. Understand the risks and benefits.
By Mayo Clinic Staff
Pregnancy is a time of great anticipation - and, sometimes, anxiety.

You might worry that your baby will have health problems. While most babies are born healthy, it's important to understand your options for obtaining details about your baby's health.

Types of prenatal testing

Prenatal testing includes both screening tests and diagnostic tests:

Screening tests. Prenatal screening tests can identify whether your baby is more or less likely to have certain birth defects, many of which are inherited disorders. These tests include blood tests, a specific type of ultrasound and prenatal cell-free DNA screening. Prenatal screening tests are usually offered during the first or second trimester. Screening tests can't make a definitive diagnosis. If you get a positive result your health care provider will discuss your options for a diagnostic test to confirm the diagnosis.

First trimester screening tests. During your first trimester, your health care provider will offer a blood test and an ultrasound to measure the size of the clear space in the tissue at the back of a baby's neck (nuchal translucency). In Down syndrome and in certain other conditions, the nuchal translucency measurement is abnormally large.

Second trimester screening tests. During the second trimester, your health care provider will offer an additional blood test called the quad screen. This test measures levels of four substances in your blood. Results indicate your risk of carrying a baby who has certain chromosomal conditions, such as Down syndrome. The test can also help detect neural tube defects - serious abnormalities of the brain or spinal cord.

Prenatal cell-free DNA screening. This sophisticated blood test examines fetal DNA in the maternal bloodstream to screen for the increased chance for specific chromosome problems, such as Down syndrome. This screening might be considered if your age, family history or medical history suggests an increased chance for having a baby with certain chromosomal abnormalities. It also might be considered if another screening test, such as the nuchal translucency or quad screen, indicates a possible problem. This screening can also provide information about a baby's sex and rhesus (Rh) blood type.

Diagnostic tests. If a screening test or prenatal cell-free DNA screening indicates a possible problem - or your age, family history or medical history puts you at increased risk of having a baby with a genetic problem - you might consider an invasive prenatal diagnostic test. A diagnostic test is the only way to be sure of a diagnosis. Some diagnostic tests, such as chorionic villus sampling - in which a sample is taken from the placenta - or amniocentesis - in which a sample of amniotic fluid is removed from the uterus - carry a slight risk of miscarriage.

Questions to consider

Prenatal screening tests for fetal abnormalities are optional. It's important to make an informed decision about prenatal testing, especially if you're screening for fetal conditions that can't be treated. Before going forward, consider these questions:

What will you do with the test results? Normal results can ease your anxiety. However, if prenatal testing indicates that your baby might have a birth defect, you could be faced with wrenching decisions - such as whether to continue the pregnancy. On the other hand, you might welcome the opportunity to plan for your baby's care in advance.

Will the information shape your prenatal care? Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal testing alerts your health care provider to a condition that requires immediate treatment after birth.

How accurate are the results? Prenatal screening isn't perfect. The rate of inaccurate results, known as false-negative or false-positive results, varies from test to test.

What are the risks? Weigh the risks of specific prenatal tests - such as anxiety, pain or possible miscarriage - against the value of knowing the results.

What is the expense? Insurance coverage for prenatal testing varies. If the test you're considering isn't covered by your insurance plan, are you willing and able to cover the cost of the test on your own?

The decision is yours

Prenatal testing can provide information that influences your prenatal care. Remember, though, some screening tests introduce the need for careful personal decisions. Ultimately, the decision to pursue prenatal testing is up to you.

If you're concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for a more thorough evaluation.

A genetic counselor can help you understand:

The chances that your baby might be affected by a certain condition

How the condition would impact your baby's life, including your baby's physical and mental development and quality of life

Possible treatment options, either during pregnancy or after birth

Taking the time to evaluate your options will help you make the best decision for you and your baby.

See more In-depth

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Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's health. Understand the risks and benefits. By Mayo Clinic Staff Pregnancy is a time of great anticipation - and, sometimes, anxiety. You might worry that your baby will have health problems. While most babies are born healthy, it's important to understand your options for obtaining details about your baby's health.

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Prenatal Screenings: Down Syndrome Stats-AT

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Prenatal Screenings: Down Syndrome Stats-AT

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Prenatal screenings are not 100% accurate. While on the other hand, diagnostic tests almost have a 100% accuracy. In the article "The Eugenics Temptation" by Michael Gerson, a statistic included in the article states that, "about 90 percent of fetuses found to have down syndrome are aborted in America". This statistic is not true, it is an out dated statistic from a 1999 study conducted in Europe. A study conducted in 2008-2012, 53% of the prenatally diagnosed babies

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How many babies prenatally diagnosed with Down syndrome (DS) are aborted in the United States each year? Well, we don't know. While new data suggesting lower numbers has recently been published,[1] we continue to see most often in print a statistics of 90% - 92%. While that certainly draws attention to the horrifying reality that the majority of children prenatally diagnosed with DS are aborted, it is not accurate. That number relies on a 1999 European study with little data drawn from the U.S.[2] There are good reasons for advocates to use the best data available to raise awareness of the problem that exists in the link between prenatal diagnosis and abortion.

A new study conducted by Gert de Graaf, Frank Buckley, and Brian Skotko and recently published in the American Journal of Medical Genetics[3] applies rigorous statistical modeling to diverse data sets in an attempt to provide the most accurate number possible. It is important to know over time what impact relatively new noninvasive prenatal screening (NIPS) technologies, only available since October 2011, will have on the already high termination rate after a prenatal diagnosis of DS.

These new NIPS tests are able to identify cell-free DNA from the placenta in the mother's blood as early as 10 weeks into her pregnancy, and claim to inform women - with near 99% sensitivity and specificity - if the baby she is carrying might have DS. Recent reports have indicated that some women are using these tests to make the decision to end their pregnancy without having the result confirmed with an invasive diagnostic test.[4] To understand the impact this new technology will have over time on birth rates of children with DS, it is essential to establish a benchmark that can be used for future comparison.

Unlike the U.S., some countries track birth defects in national registries along with prenatal diagnosis and termination rates, so there are little or no vagaries around this question. For example, the National Down Syndrome Cytogenetic Register (NDSCR) is a part of the larger British Isles Network of Congenital Anomaly Registers.[5] Both of these are part of EUROCAT, the broader European network of population-based registries that compiles epidemiological data on congenital anomalies across Europe. The NDSCR collects information on all diagnoses of trisomies 13, 18, and 21 in England and Wales. With a few clicks of a mouse, anyone can access the database and learn the prevalence, prenatal detection rates, and other key public health indicators related to genetic anomalies.

For example, using information gathered from all member registries, from 2008 to 2012, there were 4,288 live births of children with DS, 231 natural fetal deaths, and 5,215 terminations. DS live births as a percentage of total diagnosed pregnancies was 44%. Fifty-three percent of all pregnancies were aborted following prenatal diagnosis and a small percentage were lost to natural causes. We can also learn that during the same four-year period, 65.1% of the total DS cases were prenatally diagnosed.[6]

In the United States, we have no such data collection. And given how polarized we are as a nation around the topic of abortion and the strong value placed on the right to privacy, there is little chance that this level of data collection will ever be possible.

The authors of this study gathered data that is available and devised a sophisticated statistical model to estimate as closely as possible the impact of prenatal diagnosis on abortion rates. They then asked this question: How many children with DS have been born, and what has been the net effect of pregnancy terminations following prenatal testing on live birth prevalence during the period from 1900-2010? Given that prenatal diagnosis and legal abortion weren't available before about 1974, the authors focused on the years from 1974 to 2010 to develop their estimates.

In brief, the answer to their question is that for the most recent years, 2006-2010:

The estimated live birth prevalence for DS was approximately 12.6 per 10,000, or a total of around 5,300 births each year;

The number of pregnancy terminations following prenatal diagnosis is estimated at 3,100;

Taking natural losses into account, the authors estimate that there would have been 7,600 live births each year in the absence of prenatal diagnosis that resulted in abortion;

Their estimate of live-birth prevalence for 2010 is around 1 in 792, or slightly fewer births than the 14.47 per 10,000, or 1 in 691, live-birth prevalence published by the Centers for Disease Control (2004-2006 estimates).[7]

The net result of their research is that abortion after prenatal diagnosis has reduced the population of individuals living with DS in the U.S. by approximately 30%. This should not be confused with the percentage of women who abort following a prenatal diagnosis. That number would certainly be higher. This reflects the overall reduction in the DS population, and takes into consideration total DS pregnancies, whether prenatally diagnosed or not. The authors state that prior to October 2011 and the availability of NIPS, about 72% of women elected to have traditional prenatal screens and only an estimated maximum of 2% went on to have invasive diagnostic procedures, i.e., amniocentesis or chorionic villus sampling. If prenatal screening becomes more widely available, as seems to be happening, then one would expect the number of terminations to increase.

As an interesting aside, the authors estimate the total case prevalence of DS in the U.S., excluding elective termination and natural loss, to be 1 in 365. This number correlates closely with the reported live birth incidence of DS in the Arab world where abortion for DS is not permitted. The birth prevalence in Dubai is estimated at 1 in 449 overall, but much greater among the Emiratis: 1 in 319.[8]

In this publication, the authors have identified regional and racial/ethnic differences in the prevalence of abortion following prenatal diagnosis by drawing data from 12 states that maintain live birth data of DS births by racial/ethnic group. The group with the highest number of terminations was Asians/Pacific Islanders (61%) followed by non-Hispanic whites (39%), non-Hispanic blacks/Africans (27%), Hispanics (18%), and American Indians (16%). Regionally, Hawaii and the Northeast states have the highest termination rates compared to other regions of the US at 62% and 46%, respectively. The South is the lowest with an overall reduction rate of approximately 23%.

The authors of this study have provided valuable baseline data that should help frame the discussion of the impact of prenatal diagnosis on future termination rates.

The fact that there have been no clear-cut statistics in the U.S. regarding how many women receive a prenatal diagnosis for DS, their subsequent decision regarding birth, termination, or adoption is frustrating. It is equally frustrating that there is no accurate census of the population living with DS in the U.S. Another statistically based study published in 2013 revised the estimated population of those living with DS in the U.S. in 2008 from a previously estimated number of 400,000 to around 250,000 - that represents a 25%-40% reduction in population that could substantially impact services and supports, and also potential funding made available for research.

Using the statistic of 90% or 92% when citing abortions of babies with DS indeed presents a horrifying scenario, but in truth so do the numbers derived from more recent and presumably accurate surveys. DS advocates should consider the impact using old and inaccurate data might have on those considering their options following a prenatal diagnosis of DS. Hearing that 90% to 92% of parents opt for termination might have the opposite effect from what advocates desire and even encourage those who would consider abortion after a prenatal diagnosis.

Advocates would be far better served by using the statistics provided in this new study, i.e., that it is estimated that abortion following a prenatal diagnosis of DS results in a 30% reduction in overall DS births. Jamie Natoli, et al., proposed another statistic that correlates well with this study. In a 2012 publication in Prenatal Diagnosis, their research calculated a weighted mean across the U.S. of a 67% termination rate following prenatal diagnosis.[9]

Whatever the statistical realities may be, the number of those who choose abortion after a prenatal diagnosis is far too high. It should be none. To paraphrase the recently deceased disabilities rights activist, Dr. Adrienne Asch, the only thing prenatal diagnosis can provide is a first impression of who a child will be. Making such a radical decision as to end the life of a child based upon a first impression is a most horrible and violent form of discrimination. It has no place in an American society that is committed to ending discrimination in any form and that has intensified that effort for persons with disabilities over the last 25 years since the signing of the Americans with Disabilities Act in July 1990.
Mark Bradford is president of the Jérôme Lejeune Foundation USA.
[1] Jaime L Natoli, et al. (2012), Prenatal Diagnosis of Down Syndrome: A Systematic Review of Termination Rates (1995 - 2011). Prenat. Diagn., 32: 142-153. doi: 10.1002/pd.2910

[2] Caroline Mansfield, Suellen Hopfer and Theresa M. Marteau on behalf of European Concerted Action. (1999), Termination Rates after Prenatal Diagnosis of Down Syndrome, Spina Bifida, Anencephaly, and Turner and Klinefelter Syndromes: A Systematic Literature Review. Prenat. Diagn., 19: 808-812. doi: 10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B

[3] Gert de Graaf, Frank F. Buckley, Brian G. Skotko. (2015), Estimates of the live births, natural losses, and elective terminations with down syndrome in the United States.

Am J Med Genet Part A 167A:756-767.

[4] Beth Daley, "Oversold and misunderstood: Prenatal screening tests prompt abortions." New England Center for Investigative Reporting. Accessed online at http://features.necir.org/prenatal-testing

[5] See http://www.binocar.org/data

[6] See http://www.eurocat-network.eu/prenatalscreeninganddiagnosis/prenataldetection(pd)rates

[7] See http://www.cdc.gov/ncbddd/birthdefects/features/birthdefects-keyfindings.html

[8] See http://www.researchgate.net/publication/6641058_Incidence_of_Down_syndrome_in_ Dubai_UAE

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New Study: Abortion after Prenatal Diagnosis of Down Syndrome Reduces Down Syndrome Community by Thirty Percent

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How many babies prenatally diagnosed with Down syndrome (DS) are aborted in the United States each year? Well, we don't know. While new data suggesting lower numbers has recently been published,[1] we continue to see most often in print a statistics of 90% - 92%.