How To Test For Down Syndrome During Pregnancy

How Can I Get In Touch With Other Parents Of Children With Down Syndrome

New Down’s Syndrome test for pregnant women on NHS

One of the best ways to meet other parents is to get involved in a local Down syndrome parent support group. These groups can provide you with an excellent forum for sharing your feelings and concerns as a new parent, and an opportunity to learn from the experiences of others who have been in your shoes. Learning more about Down syndrome can also help ease some of your uncertainty, and support groups are a great place to start gaining knowledge. In addition to providing emotional support, other parents can recommend useful Down syndrome resources and help you understand the new terminology.

NDSS has a network of more than 375 affiliates. In addition to having support group meetings, most affiliates offer a wide range of programs and services for individuals with Down syndrome and their families, such as sibling workshops, expert-speaker presentations, early intervention programs, social activities and events to raise public awareness. Support group membership can provide benefits to you and your family now and in the future, so we encourage you to contact your local group and explore this option.

Get To Know About The Down Syndrome Test For Your Childs Safety

The process of pregnancy starts with incredible joy. But the process is not so easy as it sounds, its a test of the physical and mental ability of the parent thats why mother nature has given this supreme commitment to a mother. A mother always ensures that her little one gets the best care during the whole period of pregnancy. Just like a good physical upbringing of the child, mental health is equally important. A healthy child with an intelligent brain is what a mother hopes for.

How Downs Syndrome can affect intellectual and developmental delays?

Down syndrome is a kind of intellectual disability that is caused by a genetic abnormality. It occurs due to abnormal chromosome arrangements within one or another parent. Older age women are at higher risk of having a baby with down syndrome. Down syndrome is responsible for causing problems to the baby including physical disabilities or abnormality of the heart, bowel, or kidney. To know more,

Test during pregnancy for Downs syndrome:

Chorionic villus sampling is the test used to identify Downs syndrome. These cells are taken from the placenta and fetal chromosomes are analyzed. It is done in the first trimester, between 10 and 13 weeks of pregnancy.

Chorionic villus testing may be a prenatal test in which a test of chorionic villi is expelled from the placenta for testing. The test can be taken through the cervix or the stomach wall .

Significance of Chorionic villus sampling :

Risks associated with the test:

Pregnancy To Parenting Australia

The screening test for Down syndrome is part of the Maternal Serum Screening Test . The combined first trimester test is the most commonly offered test. This test is offered between 11 and 14 weeks gestation. The test includes a blood test to measure the levels of two naturally occuring proteins in the mother’s blood and an ultrasound test to measure the amount of fluid in the back of the baby’s neck. The results of the MMS will give the parents either a ‘low-risk’ or a ‘high-risk’ result.

The meanings of screening and diagnosis are different but they are often confused. Screening involves determining the risks or likelihood of a condition, whereas a diagnostic test will give a definite answer. Sometimes the results of a screening test might suggest the need for an invasive test in order to obtain a diagnosis, for example an amniocentesis for Down syndrome.

There are several variations of the Maternal Serum Screening test and your local health service will determine the specific tests offered. The combined screening test is recommended between 11 weeks and 14 weeks, with the triple or quadruple test if you book in later, at 15-22 weeks.

Accurate dates are important in the assessment of serum levels and so a dating scan is often offered at booking if you plan to have the serum screening, whether the nuchal translucency test is done or not.

Maternal serum screening can identify pregnancies that are at increased risk of:

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Chromosomes And How They Work

To understand Down Syndrome, you first have to learn what chromosomes are. Chromosomes exist inside the bodys cells. They are codes that tell the body how to grow. These codes control everything from the color of a persons hair, to whether they are a boy or a girl.

Chromosomes start working before a baby is even born, as it develops in the womb. They are there from the time a human is composed of only one cell. As the baby grows, it is composed of many, many more cells, but inside every cell exists the same set of chromosomes.

In every cell, a person has 46 chromosomes . Everyone has their own unique code. Thats why we all look different. The only people who have the same code are identical twins, and that is why they look the same.

All of us generally receive 23 chromosomes from our mother and 23 from our father. Each of them can be identified. They have names like Chromosome 1, Chromosome 2, Chromosome 3, all the way to Chromosome 23. Generally, we all have two of each chromosome, after receiving one of each from each parent. This also explains why you might look a little like one or both of your parents.

How Is Down’s Syndrome Diagnosed

Blood Test For Down

Down’s syndrome can be diagnosed before birth or after birth .

Down’s syndrome may be suspected shortly after birth because of the typical features that a baby with Down’s syndrome may have. Diagnosis is confirmed by genetic tests to look at the appearance and number of chromosomes of the baby. This is essentially their genetic make-up. It involves the baby having a blood test. The chromosomes in their blood can then be examined to look for an extra chromosome 21.

The rest of this leaflet concentrates on screening for Down’s syndrome and the diagnosis of Down’s syndrome during pregnancy, before the baby is born.

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Can You Find Out During Pregnancy If Your Baby Has Down Syndrome

Yes. Health care providers offer testing for Down syndrome to all pregnant women as part of regular prenatal care . You can decide if you want to have these tests. Talk to your health care provider or a genetic counselor about testing for Down syndrome.

If you or your partner has a family history of Down syndrome, tell your health care provider or genetic counselor. Family history means that someone in either of your families has the condition. Use our family health history form to help you find out if certain health conditions run in your families.

There are two kinds of prenatal tests to check for Down syndrome:

  • Screening tests. These are medical tests to see if youre at risk or your baby is at risk for certain health conditions. A screening test for Down syndrome checks to see if your baby is more likely than other babies to have Down syndrome. Screening tests are safe for you and your baby, but they dont tell you for sure if your baby has a condition like Down syndrome.
  • Diagnostic tests. These are medical tests to see if you do or dont have a certain health condition. Diagnostic tests may have more risks than screening tests, but they can tell you for sure if your baby does or doesnt have Down syndrome. If a screening test shows your baby is at high risk of Down syndrome, your provider may recommend a diagnostic test to confirm the results.
  • What Tests Are Done To Screen For Down Syndrome

    • Testing a sample of your blood for two particular proteins: human chorionic gonadotrophin and pregnancy-associated plasma protein
    • A nuchal translucency scan. This is an ultrasound scan that measures the fluid at the back of your baby’s neck.
    • live in a rural or remote region that doesnt have the specialist ultrasound capability needed for the first-trimester NT scan
    • had your first appointment with your doctor or midwife later than 14 weeks of pregnancy

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    What Are The Reasons To Test Or Not Test

    The reasons to test or not test vary from person to person and couple to couple.Performing the tests and confirming the diagnosis provides you with certain opportunities:

    • Begin planning for a child with special needs
    • Start addressing anticipated lifestyle changes
    • Identify support groups and resources

    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 is
    • Because of personal, moral, or religious reasons, the decision about carrying the child to term is not an option
    • Risk of harming the developing baby

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

    People With Down Syndrome Have An Extra Chromosome

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    Theres something different about the chromosomes in people with Down Syndrome. These people have three copies of Chromosomes 21. This is why Down Syndrome is also called Trisomy 21. They have two of all the rest, but the codes in the extra Chromosome 21 make a difference in how their bodys grow. They also make them learn and act differently.

    Various mutations can occur in the number of chromosomes a child receives from their parents. In the case of Down Syndrome, the child receives an extra of Chromosome 21, for a total of three. In the case of Trisomy 18, there are three sets of Chromosome 18. Mutations in the number of chromosomes will affect the way the baby grows and learns. People who share the same variance in chromosomes will display similar traits. For example, people with Down Syndrome have low muscle tone, an upward slant to the eyes, and delayed language development, among other things.

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    When Will I Be Offered Screening

    Different screening tests are offered at different times during pregnancy.

    The screening test for sickle cell and thalassaemia should be offered as early as possible before 10 weeks of pregnancy.

    Its recommended that screening blood tests for HIV, hepatitis B and syphilis should happen as early as possible in pregnancy.

    This is so you can be offered specialist care and treatment to protect your health and reduce the chance of your baby getting infected.

    These blood tests should not be delayed until the first scan appointment.

    Youll be offered screening for Downs syndrome, Edwards syndrome and Pataus syndrome around the time of your dating scan, which happens when youre around 11 to 14 weeks pregnant.

    Youll be offered screening to check your babys development at a 20-week scan when youre around 18 to 21 weeks pregnant.

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    Testing And In Vitro Fertilization

    Another approach to diagnosis is used in conjunction with in vitro fertilization. Preimplantation genetic diagnosis allows clinicians to detect chromosome imbalances or other genetic conditions in a fertilized egg before it is implanted into the uterus.

    This technique is useful mostly for couples who are at risk of passing on a variety of genetic conditions, including X-linked disorders, as well as couples who have suffered repeated spontaneous pregnancy losses, sub-fertile couples, or those at risk for single-gene disorders.

    Those interested in PGD should have genetic counseling and should consider close monitoring and additional testing during their pregnancies, given some increased risk of chromosomal abnormalities arising secondary to the in vitro fertilization process.10

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    Are There Any Risks To The Tests

    There is very little risk to having a blood test or ultrasound. After a blood test, you may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.

    Amniocentesis, CVS, and PUBS tests are usually very safe procedures, but they do have a slight risk of causing a miscarriage.

    How Are The Tests Done

    Safer screening test for Downâs syndrome recommended for twin ...

    For the nuchal translucency test, your doctor or an ultrasound technologist spreads a gel on your belly. Then he or she gently moves a hand-held device called a transducer over your belly. Images of the baby are displayed on a monitor. The doctor can look for and measure the thickness at the back of the babys neck.

    A simple blood test is all thats needed for the rest of the first-trimester screening.

    The health professional taking a sample of your blood will:

    • Wrap an elastic band around your upper arm. This makes the veins below the band larger so it is easier to put a needle into the vein.
    • Clean the needle site with alcohol.
    • Put the needle into the vein.
    • Attach a tube to the needle to fill it with blood.
    • Remove the band from your arm when enough blood is collected.
    • Put a gauze pad or cotton ball over the needle site as the needle is removed.
    • Put pressure on the site and then put on a bandage.

    There are no known physical risks to having the tests, other than a possible bruise on your arm from the blood test.

    The doctor looks at the test resultsalong with your age and other factorsto find out the chance that your baby may have certain problems.

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    How To Prep For Screening For Down Syndrome

    One important reason mothers may choose to screen for chromosomal abnormality is so that they can prepare themselves both emotionally and practically for the experience of raising a baby with certain challenges. Educating oneself and processing the shock that comes with learning that your child won’t be as you imagined can be very helpful. Here’s a thoughtif your risk is high, you could learn something about Down Syndrome just in case, or maybe do the screening even if you’re not particularly older. Then if you find out you have a higher chance than you thought, but you’re not comfortable with amniocentesis, you can still learn a few things that could help if your baby is born with it.

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    Further Testing For Down Syndrome

    If your screening indicates a high risk of having a baby with chromosomal abnormalities, an amniocentesis will be recommended. An amniocentesis will give you a diagnosis of whether or not your baby has Down Syndrome or chromosomal abnormality. The amniocentesis consists of extracting a small amount of amniotic fluid from your womb by sending a very thin needle through the skin. The amniotic fluid contains fetal DNA, which is where the baby’s chromosomes can be found.

    It is important to note that an amniocentesis does pose a potential danger to the baby. The possibility of miscarriage after amniocentesis is about 1 in 200, or even less. It’s a fairly small chance, but it is there.

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    Why Does Down Syndrome Occur

    In Victoria, approximately 1 in 700 babies will be born with Down syndrome. It occurs because either the egg or the sperm involved in the formation of the embryo carried an extra copy of Chromosome 21.

    The vast majority of cases of Down syndrome are due to a problem with the egg. A small percentage of all eggs have abnormal chromosome arrangements. As a woman ages, the proportion of eggs with abnormal chromosomes increases, so the risk of Down syndrome increases with age. However Down syndrome can occur in pregnancy in women of any age.

    The remaining 10% of cases of Down syndrome are due to abnormal arrangements of chromosomes within one or the other parent, such that all their cells, not just their eggs or sperm are affected.

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    • The maternal serum screening test is a blood test offered to pregnant women.
    • It helps to inform them of the chance of their unborn child having Down syndrome, Edward syndrome or a neural tube defect.
    • The test may be performed at around 10 weeks or between 14 and 20 weeks .
    • In most cases that are identified as increased chance, the baby does not have Down syndrome, Edward syndrome or a neural tube defect.
    • Non-invasive pre-natal testing is a newer test that will inform nearly all pregnancies affected by Down syndrome, Edward syndrome and Patau syndrome.

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    Is What Im Feeling Normal

    Learning that your baby has Down syndrome is not an easy thing for anyone to face, and right now you may be experiencing a roller coaster of emotions. While everyone handles the diagnosis in their own way, certain reactions are common in new or expectant parents of a child with a disability.

    For the majority of parents, the period immediately following the diagnosis is filled with uncertainty and doubt. For example, you might worry about how the condition will impact your childs life and whether or not you are equipped to handle all the responsibilities of raising a child with a disability. If your child has health complications, you may have additional fears and concerns. It is natural to experience denial, anger, depression, and other stages of grief as you adjust to the news that your baby has Down syndrome. Even for parents who knew they were at a higher risk of having a child with Down syndrome or have received a positive diagnosis, acceptance can be difficult or, at first, seem impossible.

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