What Does Genetic Testing In Pregnancy Show

What Do The Results Of Genetic Testing During Pregnancy Mean

Genetic Testing During Pregnancy

While most results may come back as normal or negative, this does not always mean that the baby has zero chances of having a genetic disorder.

Again, any result you get from a screening test is not a black and white or yes/no answer as to whether or not your child will have a certain condition or birth defect. Instead, screenings reveal the potential for certain conditions and birth defects. Positive screening tests are confirmed with further testing.

A positive result on a diagnostic test means your baby has a higher risk of having whatever genetic issue or birth defect the test was looking for. If this happens, your doctor will discuss the different options available as well as any additional care you may need during and after your pregnancy. Your doctor may also refer you to a specialist for more information about the specific disorder.

Embryo Preimplantation Genetic Testing Considerations

PGT risks

There are no documented health risks for children born after PGT testing beyond the normal health risks to mother and child through IVF. Handling of the embryo, its biopsy, freezing, and thawing results in a small risk of damage leading to an embryo that does not implant. Generally, around 5% of embryos evaluated by PGT are lost due to such damage.

Another risk of PGT is inaccuracy in test findings, as the testing is not 100% accurate. For this reason, it is recommended that the patient undergo typical prenatal testing when she is pregnant, such as amniocentesis.

Ethical issues of PGT

As PGT testing evolves, the prospect of selecting traits to pass on to a child through embryo selection might become another use of the technology. It was originally just used to increase healthy IVF births, and that is still the predominant reason for its use. PGT will undoubtedly be used more often in the future by parents to look for traits in embryo genetics they want to pass on to their children and selecting to not pass on other traits.

This puts PGT in the moral ground of eugenics, a past scientific attempt to improve the human population through selective breeding for desired characteristics. PGT experts see this as an increasing issue for clinics offering the service and for patients deciding on whether or not to use it. Debate is ongoing about which genetic traits should be identified, as well as on the need for laws to guide clinics and patients.

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Carrier Screening Before Conception

A carrier of a genetic disorder has one normal gene and one mutated gene in a specific gene pair. If both parents are carriers, their child can have the genetic condition.

If you have a strong family history of or a prior pregnancy affected by a genetic condition, you might want to meet with a genetic counselor before conceiving, says Dr. Vander Haar, also an assistant professor of obstetrics and gynecology at Weill Cornell Medicine.

The work-up involves taking blood samples to look for inherited conditions, such as Tay-Sachs disease or cystic fibrosis, that parents might pass to their children. If youre thinking ahead to pregnancy, you and your partner can both get tested to make sure that you dont carry the same mutation, says Dr. Vander Haar.

If couples do carry the same mutation, they can discuss with a genetic counselor the chance that their baby will be affected as well as other tests and options to consider.

Dr. Emilie Vander Haar

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Genetic Testing : What Parents Need To Know

If your child has symptoms of an inherited condition or one that might be caused by a spontaneous gene mutation, your doctor may recommend genetic testing.

, clinical geneticist and Executive Director of Mitochondrial Medicine, a Frontier Program at Childrens Hospital of Philadelphia , recently summarized the basics of genetic testing for families in a patient resource published in JAMA Pediatrics. In the article, co-authored by Megan Moreno, MD, of the University of Wisconsin-Madison, Dr. Falk shares key information about genetic testing at CHOP.

Common Feelings About Testing

Women have the right to prenatal genetic testing

Not everyone who has genetic testing or screening will have the same reaction. People within a family may have very different feelings.

  • Some people may worry about what the test result may show, or how they will react to the test result.
  • Others may feel relief that they were able to inform themselves. The results of genetic testing may help these people decide what to do next.
  • People who are at risk of having a child with a genetic condition may feel anxious or overwhelmed at the thought of passing it onto the next generation.
  • Others may be comfortable with the risks but want to learn about their options.
  • People undergoing fertility treatments or prenatal testing may feel stress because of the risk of the procedures, the decisions that they may face, the future health of their baby, financial strain, and relationship pressures.

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What If Cvs Is Not Possible

Women with twins or other higher-order multiples usually need sampling from each placenta. However, because of the complexity of the procedure and the positioning of the placentas, CVS is not always feasible or successful with multiples.

Women who are not candidates for CVS or who did not get accurate results from the procedure may require a follow-up amniocentesis. An active vaginal infection, such as herpes or gonorrhea, will prohibit the procedure. In other cases, the doctor may take a sample that does not have enough tissue to grow in the lab, generating incomplete or inconclusive results.

Second Trimester Genetic Screening Tests

  • Maternal serum screen: This screening involves a blood test that looks for markers of trisomy 21 , trisomy 18 , or neural tube defects. For the most accurate results, this test should be given between weeks 15 and 17, but it can be done anywhere between 14 weeks and 20 weeks, 6 days.
  • Anomaly ultrasound: This ultrasound looks at your baby from head to toe. Your healthcare professional will look at the size of your babys head and for other potential physical issues. This ultrasound is usually performed between and, yes, its also the scan where you may find out your babys sex.

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Risks Of A Pregnancy Blood Test

Pregnancy blood tests are safe and unlikely to cause any major side effects. But the needle might pinch a little bit, and you might have some mild, temporary bruising at the site of the injection.

Its not unusual to feel nauseous, dizzy, clammy or even faint during a blood draw or even beforehand, if having blood taken makes you anxious. Eating or drinking something sugary or salty before your test can help just make sure to check with your provider first.

From the What to Expect editorial team and Heidi Murkoff, author of What to Expect When You’re Expecting. What to Expect follows strict reporting guidelines and uses only credible sources, such as peer-reviewed studies, academic research institutions and highly respected health organizations. Learn how we keep our content accurate and up-to-date by reading our medical review and editorial policy.

What To Consider When Deciding Whether To Have Genetic Testing During Pregnancy

Advanced prenatal genetic testing

Prenatal testing is optional. You might consider the following risk factors for chromosomal issues or birth defects when making your decision to test:

  • Your age: The risk is higher as you age particularly over age 35.
  • Your ethnicity: People of different ethnic backgrounds may carry a higher risk of certain chromosomal issues and birth defects as well.
  • Your family medical history: If a genetic condition runs in your family, you may be at higher risk of passing on the condition to your offspring.
  • Your pregnancy history: If you have had another child with a genetic condition or birth defect, you may have a higher risk of passing it on to another child.

Choosing to undergo testing is very personal. On one hand, it gives you time to consider different options or find support if you receive a positive result. On the other, you may not want this information so its up to you and your partner.

Screening tests usually give a positive or negative result with regard to certain conditions or birth defects. They indicate the potential for issues versus a confirmation of diagnosis.

Screenings may be performed in the first or second trimester.

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Prenatal Testing For Down Syndrome

Down syndrome is a genetic condition caused by extra genes from the 21st chromosome. It results in certain characteristics, including some degree of cognitive disability and other developmental delays. Common physical traits include an upward slant of the eyes flattened bridge of the nose single, deep crease on the palm of the hand and decreased muscle tone. A child with Down syndrome, however, may not have all these traits.

The incidence of Down syndrome in the United States is about 1 in 1,000 births. There is no association between Down syndrome and culture, ethnic group, socioeconomic status or geographic region.

Genetic Tests At A Glance

For a quick look at the types of genetic tests available to you, check out the table below.

Genetic testing can be a routine part of your prenatal care. If you have any questions as to which tests you should take, turn to your healthcare provider, who can recommend what’s best for your particular situation. Although optional, genetic tests can give you more information about the health of your baby, which is something to keep in mind when making your decision about taking the tests.

How we wrote this articleThe information in this article is based on the expert advice found in trusted medical and government sources, such as the American Academy of Pediatrics and the American College of Obstetricians and Gynecologists. You can find a full list of sources used for this article below. The content on this page should not replace professional medical advice. Always consult medical professionals for full diagnosis and treatment.

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Prequel Prenatal Screen With Amplify Technology Provides Results To > 999% Of Patients

The Prequel Prenatal Screen has the lowest test failure rate in the industry, which translates to a lower chance of needing a repeat test or an unnecessary invasive diagnostic procedure. We use advanced science and technology that works for pregnant women of all ages, including those with twin and IVF pregnancies.

What Are Kick Counts And How Do You Do Them


Kick counts is a way for you to track how often your baby moves. By about 5 months of pregnancy, you should start to feel your baby move in your belly. Your baby can turn from side to side and sometimes head over heels. Tell your provider if:

  • Youre at about 20 weeks of pregnancy and havent felt your baby move.
  • Youre worried that your baby isnt moving.
  • You notice a change in how often your baby moves, especially if movement decreases.

Your provider may ask you to do kick counts to see when and how often your baby moves. Here are 2 ways to do kick counts:

  • Every day, time how long it takes for your baby to move 10 times. If it takes longer than 2 hours, tell your provider.
  • See how many movements you feel in 1 hour. Do this 3 times each week. If the number changes, tell your provider.
  • You can do kick counts into your third trimester. If your provider is concerned about your babys movements, they may do other tests to check on your babys health.

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    Why Is It Important To Do Genetic Testing During Pregnancy

    Many genetic abnormalities can be evaluated or diagnosed before your baby is born . This depends on the family history and if a known disease-causing mutation has been already identified in the family.

    Your obstetrician may recommend that you and your family meet with a geneticist and genetic counselor to arrange for genetic screening tests and/or genetic diagnostic tests during the pregnancy if:

    • you or your partner has a family history of genetic disorders
    • you have had a prior fetus or baby with a genetic abnormality
    • an abnormality may be suspected on a fetal ultrasound.

    Genetic counseling is always recommended prior to any prenatal diagnostic testing for genetic disorders. This is also available for couples who have general questions or concerns.

    What Do The Results Mean

    Down syndrome screening results can only show if you have a higher risk of having a baby with Down syndrome, but they cant tell you for sure if your baby has Down syndrome You may have results that are not normal, but still deliver a healthy baby with no chromosomal defects or disorders.

    If your Down syndrome screening results were not normal, you may choose to have one or more diagnostic tests.

    It can help to speak to a genetic counselor before testing and/or after you get your results. A genetic counselor is a specially trained professional in genetics and genetic testing. He or she can help you understand what your results mean.

    Learn more about laboratory tests, reference ranges, and understanding results.

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    Considering Genetic Testing For Your Embryo Here Are 7 Things To Consider

    27 Jan by Erika

    Genetic testing for embryos is a controversial issue but one thing is for certain, when women use this screening process especially older women and those who have had repeat miscarriages are less apt to miscarry implanted embryos and data from recent studies show that certain methods for genetic screening show significantly higher IVF success rates.

    Its widely known that genetic abnormalities are a leading cause of failed implantations and miscarriages. The process of screening the embryos beforehand allows doctors to select the most genetically viable options for an assisted reproductive technology that is never a guarantee.

    Here are 7 things you will want to consider before you proceed with genetic testing before your IVF procedure.

  • Its history. PGS and PGD have existed since the 1990s but the processes and techniques have evolved considerably since then. They are still relatively new procedures but the success rates continue to improve the more we learn. In most cases, the genetic screening will be done using a single cell from 3- to 5-day old embryos, depending on the procedure being used. Your doctor can discuss the various procedures and how timing can affect testing results and implantation with you further.
  • Have you elected to have embryonic genetic screening prior to your IVF cycles? Please share your story in the RRC comment box below for others to learn from.

    Image Courtesy of Dream Designs at FreeDigitalPhotos.net

    Total Confidence In Every Result

    Genetic Testing and Pregnancy

    Those shortfalls are rarely referenced when companies explain the tests to doctors and patients.

    A Labcorp MaterniT21 lab report tells patients the test detected a problem, even though most studies show positives on that screening are usually wrong. Myriad Genetics advertised total confidence in every result on its prenatal testing website but said nothing about how often false positives can occur.

    After The Times inquired about these tests, Myriad took down that language.

    The Times reviewed 17 patient and doctor brochures from eight of the testing companies, including Natera, Labcorp, Quest and smaller competitors. Ten of the brochures never mention that a false positive can happen. Only one mentioned how often each test gets positive results wrong.

    Examples of positive

    A footnote defines high probability

    as 1% or greater.

    Genetic counselors who have dealt with false positives say some doctors may not understand how poorly the tests work. And even when caregivers do correctly interpret the information, patients may still be inclined to believe the confident-sounding results sheets.

    When Cloey Canida, 25, got a positive result from Roches Harmony test in September, the result sheet seemed clear:It said her daughter had a greater than 99/100 probability of being born with Patau syndrome, a condition that babies often do not survive beyond a week.

    Kitty Bennett contributed research.

    About the analysis

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    C Ido Want To Have Prenatal Screening Now What

    Once you have decided to proceed with prenatal screening, the next step is for you and your health care provider to choose which testing option is right for you. The following two tables compare available screening tests. Some factors that affect which prenatal screening tests you can choose from are:

    • Where you live
    • Screening choices vary according to where you live. Your health care provider will discuss what is available.
  • How far along you are in the pregnancy
  • Accurate dating of your pregnancy, determined by a first trimester ultrasound, is important for accurate screening results. Dating based on last menstrual period is not ideal, but if a first trimester ultrasound is not available this dating can be used.
  • If the first prenatal visit with your health care provider is before 14 weeks of pregnancy, options that may be presented to you include:
  • Enhanced First Trimester Screening
  • Non-Invasive Prenatal Testing
  • If the first prenatal visit with your health care provider is after 14 weeks and before 21 weeks of pregnancy, options that may be presented to you include:
  • Multiple Marker Screening
  • Non-Invasive Prenatal Testing
  • The age of the pregnant person when the baby is born
  • If the pregnant person/egg donor will be 40 years of age or older at the time of birth, prenatal testing options include all screening tests above, in addition to the option of diagnostic testing
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    What Are Screening Tests And Diagnostic Tests

    Screening tests check to see if your baby is more likely to have a health condition, but they dont tell you for sure whether your baby has a condition.

    Diagnostic tests tell you whether your baby has a health condition. If a screening test shows your baby is at high risk of a health condition, your provider may recommend a diagnostic test to confirm the results. Some diagnostic tests may have some risks for your baby, such as miscarriage. Miscarriage is when a baby dies in the womb before 20 weeks of pregnancy.

    Screening test results can help you decide whether you want to have a diagnostic test. You may or may not want to know whether your baby has a health condition. If you decide to have a diagnostic test, you can learn more about your babys condition and how to care for your baby after hes born. You also can make plans to give birth in a hospital that can give your baby special medical care.

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