How Much Is Genetic Testing During Pregnancy

Other Methods For Determining Gender

Assuming you didnt do any kind of sex selection via in vitro fertilization and youre not relying on old wives tales, which we dont recommend! theres really only one non-blood test to know your babys gender: an abdominal ultrasound.

Somewhere around 14 weeks gestation, your babys genitals are developed enough to be spotted on an ultrasound.

But unless you have another reason for having an ultrasound at this point in your pregnancy, youll have to wait until your anatomy scan is scheduled. This usually happens around the 20th week of pregnancy.

Its probably better this way, anyway. In the first trimester, the accuracy of gender predictions with ultrasound is only about 75 percent, according to a 2015 study , compared with nearly 100 percent accuracy in the second and third trimesters.

And still, even though youre getting a made-for-TV movie of your babys actual body growing inside your belly during the anatomy scan, the gender results of a second trimester ultrasound should always be taken with a grain of salt

Sometimes babies dont cooperate with the timing of your appointment, and sometimes the ultrasounds are just plain misinterpreted.

What You Need To Know

• Genetic screening can help diagnose the potential for certain genetic disorders before birth.
• First trimester screening is a combination of fetal ultrasound and maternal blood testing. This screening process can help determine the risk of the fetus having certain birth defects.
• Second trimester prenatal screening may include several blood tests called multiple markers. These markers provide information about the risk of having a baby with certain genetic conditions or birth defects.
• You may have ultrasounds performed at different times in your pregnancy to check for fetal growth, estimate your due date and look for any structural abnormalities in the baby.
• Additional testing during pregnancy may include amniocentesis, chorionic villus sampling , fetal monitoring, glucose testing and Group B strep culture.

Screening Vs Diagnostic Testing

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.

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What Types Of Screenings Can Be Done

Genetic tests can screen for a number of disorders. The most common include:

• Down syndrome Down syndrome happens when a person has an extra chromosome 21. Down syndrome can cause mental disabilities and heart defects. Women over 35 are at a higher risk for having a baby with Down syndrome.
• Edwards syndrome Edwards syndrome happens when a person has an extra chromosome 18. Edwards syndrome can cause serious health issues, such as poor growth and brain and heart defects, and can lead to stillbirth or death in infancy.
• Patau syndrome Patau syndrome happens when a person has an extra chromosome 13. Patau syndrome causes serious health issues, often resulting in stillbirth or death within a few days of birth.
• Spina bifida Spina bifida, also called a neural tube defect, happens when a babys spinal cord does not develop properly. Spina bifida can cause minor health issues, such as bowel and bladder problems, or more serious issues, such as trouble walking.
• Cystic fibrosis Cystic fibrosis causes lung and pancreas secretions to become sticky, which can result in problems breathing and absorbing nutrients over time. The different types of screenings may differ depending on when they occur during pregnancy. If youre considering genetic screening, talk to your provider early in your pregnancy to weigh your options so you can make the best decision for you and your family.

Paternity Testing Before Birth

If you have any questions about who the baby’s father is then the most reliable paternity test method is testing for DNA which can be done as prenatal paternity testing either during pregnancy or after delivery of the baby.

DNA stands for “deoxyribonucleic acid” which is a material present in nearly all living organisms as the main constituent of chromosomes, carriers of genetic information that are found in the nucleus of most living cells.

In the past, DNA-based paternity tests were only available after delivery from tissue or blood collected from the baby and the alleged father. Or invasive tests had to be done during pregnancy potentially risking the baby’s life. It is now possible to do paternity testing during pregnancy and prior to birth with a simple non-invasive blood test from the mother and a DNA test from the father. This makes it possible to do fetal DNA testing from the mother’s blood as early as 8-9 weeks in pregnancy without risk to the baby because only blood is collected from the mother without the need for an invasive test.

Since cells from the fetus float freely in the bloodstream of the pregnant mother as early as 8 weeks of the pregnancy, paternity testing companies can develop a DNA profile of the fetal cells and compare the profile to the DNA profile of the presumed father. A conclusive paternity test report can be delivered in as little as 3 business days after both DNA samples have been received, but the supposed father has to be tested too..

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Group B Strep Screening

Group B Streptococcus 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:

• mouth
• lower intestinal tract
• vagina

GBS in the vagina generally isnt harmful to you, regardless of whether youre pregnant. However, it can be very harmful to a newborn baby who is born vaginally and doesnt 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 36 to 37 weeks. If you test positive for GBS, youll receive antibiotics while youre in labor to reduce your babys risk of contracting a GBS infection.

How Is A Glucose Tolerance Test Performed

You may be asked to only drink water on the day the glucose tolerance test is given. Although the specific details of each procedure may vary, a typical glucose tolerance test includes the following steps:

• An initial fasting sample of blood will be drawn from your vein.

• You will be given a special glucose solution to drink.

• Blood will be drawn at various times over the course of several hours to measure the glucose levels in your body.

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Who Should Consider Genetic Testing

You may want to consider genetic testing if:

• you or your partner is at risk of passing on a genetic condition
• you or your partner has a chromosome condition, or has a child with a chromosome condition
• you are a woman over 35, and therefore more at risk of having a child with a chromosome condition because of your age

What Is The Non

During pregnancy, some of the babys DNA passes into the mothers bloodstream. The non-invasive prenatal test analyses the genetic information contained in this DNA to screen for a number of abnormalities. The test is particularly sensitive to Down syndrome.

NIPTs have been offered in private centres in Australia for about 7 years. They are sometimes referred to by different names, depending on the company that makes them and including Harmony, Generation and Percept. The NIPT involves a simple blood test and can be done from 10 weeks into the pregnancy.

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How To Read A Dna Test Report

Most people review DNA tests with a genetic counselor. Genetic counseling helps people process the information in a DNA test accurately so there isnt any emotional upheaval over misperceptions. Consulting with a genetic counselor is recommended especially if there is a concern over a health risk.

Some DNA testing services, like Sequencing.com, offer genetic counseling to make the process of understanding the results easier. This genetic counseling is available online to make it quick and easy to understand analysis reports providing by the DNA company.

There are some DNA testing companies that provide an explanation of the results in their analysis reports, such as Sequencing.com. In a Sequencing.com analysis report, individuals can see their DNA data and how it relates to the conditions or traits analyzed. Theres also an explanation of the results written in a simple and easily understood manner.

DNA test analysis reports can also be used by a health care professional. A doctor can interpret the results and use the information to prescribe medications or help with diagnosis depending on whether the person has a genetic disposition to a certain health condition.

Who Should Have Prenatal Genetic Testing

The American College of Obstetricians and Gynecologists recommends that all pregnant women, regardless of their age, be offered screening for Down Syndrome . With the exception of the First Trimester Screening, genetic testing is generally offered to couples or individuals who are identified as being at risk for a particular genetic condition.

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Why Have An Nipt

The NIPT is highly sensitive and picks up more than 99% of cases of Down syndrome. But it is still a screening test rather than a diagnostic test. This means it can only tell you whether there is an increased risk of having a baby with an abnormality, rather than give you a definitive answer.

The only way of knowing for sure whether your baby has Down syndrome is to have a diagnostic test such as chorionic villus sampling or amniocentesis.

Most women in Australia are offered the combined first trimester screening to screen for Down syndrome. This combines results from a blood test, the mothers age and an ultrasound scan to show whether the baby is at increased risk of Down syndrome. The advantage of this type of screening is that the ultrasound can pick up other problems with the pregnancy and estimate the age of the fetus.

You might choose to have an NIPT test if:

• your combined first trimester screening test shows you are at increased risk of having a baby with Down syndrome
• you did not have the combined first trimester screening test because it was too late or the test wasn’t available in your area
• you want to be sure you are at increased risk before you opt for diagnostic tests such as amniocentesis or CVS, which carry a small risk of miscarriage
• you are at increased risk

NIPT is a good option if you are willing to pay for it the test is expensive and not covered by Medicare . You should also consider genetic counselling before you have an NIPT.

When To Get Nipt

NIPT can be done at various stages in the pregnancy, as shown in the Prenatal Screening Pathway.

• Some pregnant individuals will have NIPT as the first prenatal genetic screen in their pregnancy, and it can be done as early as 9 or 10 weeks gestation depending on the lab. A nuchal translucency ultrasound in the first trimester can still be performed to provide additional information about the health of the baby.
• Other pregnant individuals will start with a traditional screening test and then may decide to have NIPT if the traditional screening reports a positive result, or if there are concerns on one of the ultrasounds.

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What Are Your Risk Factors

In my practice, I care for women with a higher-than-average risk of having a baby with a birth defect. They may have a family history of genetic conditions, or they may be older than 35.

These women would seem to be good candidates for genetic testing during pregnancy and they are. In fact, every pregnant woman is a candidate for genetic testing. But that doesnt mean every woman wants to be tested.

You can talk with your ob-gyn about your risk factors and use that knowledge to inform your decision.

Is Preconception Genetic Testing Covered By Insurance

Insurance coverage for carrier screening depends on many factors, including what kind of testing is being ordered , whether the personâs ancestry makes them high risk to be a carrier of a genetic condition, and whether there is a family history of a genetic disorder. It is recommended that someone considering genetic testing talk with their insurance company to best understand what will, and will not, be covered and at what percent.

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How To Find Out Your Babys Sex During Pregnancy: Genetic Testing And Other Methods To Try

If you are pregnant, you may be curious to know the sex of your baby. There are some early prediction methods that can determine the sex of your baby including ultrasound testing, genetic testing, and blood testing. Well go over these methods in detail and find out about their accuracy in predicting the sex of your baby.

Second Trimester Screening Tests

In this part of your pregnancy, there are a few typical tests your doctor will offer:

AFP test. This test screens for neural tube defects. It usually is done if the patient has already had the cell-free DNA test, which doesn’t screen for these types of defects.

Maternal serum quad screen: This blood test looks for proteins in your blood that can mean your baby has a higher risk of Down syndrome, trisomy 18, and spine or brain problems. Your doctor can do the test between 15 and 21 weeks.

Integrated screening : If you got the first part of this test in your first trimester, youll have another blood test between 16 and 18 weeks.

Ultrasound: Around week 20, a technician uses a machine to make images of your baby using sound waves. Your doctor uses these pictures to look for birth defects like cleft palate, heart problems, and kidney problems.

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How Accurate Is Nipt

Research suggests that NIPTs create fewer false alarms than standard first-trimester blood screenings that measure hormones and special proteins in Mom’s blood. Other research has shown that NIPTs are more accurate than those same standard screenings in predicting the risk of Down syndrome and Edwards syndrome.

Questions To Ask About Prenatal Testing

Thanks to major medical advances over the past few decades, its now possible for parents to learn their babys risk for a number of medical conditions as early as a few months into the pregnancy.

If youre thinking about being screened for chromosomal disorders, here are a few questions to consider:

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Detecting Abnormalities Before Birth

Before the procedure, ultrasonography is done to evaluate the heart of the fetus, to confirm the length of the pregnancy, to locate the placenta and amniotic fluid, and to determine how many fetuses are present.

A doctor inserts a needle through the abdominal wall into the amniotic fluid. Sometimes a local anesthetic is first used to numb the site. During the procedure, ultrasonography is done so that the fetus can be monitored and the needle can be guided into place. Fluid is withdrawn, and the needle is removed.

Occasionally, the amniotic fluid contains blood from the fetus. Such blood may increase the alpha-fetoprotein level, making the results hard to interpret.

Amniocentesis rarely causes any problems for the woman or the fetus. The following may occur:

Pros And Cons Of Genetic Diagnostic Tests

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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