It is safe for both mother and baby. There will usually be a cost, but you can claim some of it back from Medicare. If the baby is at increased chance, you will be offered a diagnostic test, which is optional, to confirm whether or not the baby has Down syndrome. The non-invasive prenatal test or NIPT, and sometimes called by brand names such as Harmony or Percept is a newer, very sensitive form of screening for Down syndrome. NIPT tests are only done in private clinics and are not covered by Medicare.
This type of test is most suitable for women who are at increased chance of having a baby with Down syndrome. It is usually offered to women who missed the combined first trimester screening test, or if it was not available where they were living. It involves a blood test to look for hormones that could indicate the baby has Down syndrome or a neural tube defect.
If your baby is at increased chance, you will be offered a diagnostic test, which is optional, to confirm whether or not the baby has Down syndrome. This can sometimes show signs of Down syndrome. The only way of knowing for sure whether your baby has Down syndrome is to have a diagnostic test. You will receive the results a few days after the test. Your doctor will explain the results, and you may be offered genetic counselling.
Your midwife or doctor will make sure you see the appropriate health professionals, such as a genetic counsellor, to help you get all the information and support you need to make the right choice for you and your family. If the result is positive, you can choose to keep the baby, place the baby for adoption or end the pregnancy. Consider how you would care for a child with Down syndrome and how this would affect your family.
Thankfully, the outlook for people with Down syndrome is usually very good. For more information about living and raising a child with Down syndrome, visit the Down Syndrome Australia website. Learn more here about the development and quality assurance of healthdirect content. A non-invasive prenatal test NIPT is a sensitive test to screen for Down syndrome and some other chromosomal disorders in the first trimester of pregnancy.
Down syndrome is a genetic disorder characterised by mental and developmental impairments. Down syndrome is a genetic condition and is also sometimes known as trisomy You can find out more about Down syndrome below. You can also turn on the Easy Read for this page. Read more on Down Syndrome Australia website.
Down syndrome causes intellectual disability and other challenges. Early intervention can help children with Down syndrome reach their full potential.
Read more on raisingchildren. Coronavirus information and Down syndrome This page has information about Coronavirus that may be helpful to people with Down syndrome and…. When caring for a child with Down syndrome, you might face some challenges different to other parents.
Read more on Sydney Children's Hospitals Network website. Read more on Better Health Channel website. However, because these tests require using a needle to obtain a sample from within the uterus, they carry a small increased risk of miscarriage and other complications. Down syndrome can also be diagnosed after a baby is born. Clinicians can usually tell if a baby should be tested for Down syndrome based on a physical examination.
The first test, a rapid blood test FISH , confirms the presence of extra material from chromosome Results are available within a few days. A karyotype test is a blood test that takes about one to two weeks for results. This provides further information on the type of Down syndrome, which is important in determining the chance of trisomy 21 in a future pregnancy.
While there is no cure for Down syndrome, there are a variety of treatments and therapies to address a child's unique medical issues and developmental profile. Almost half of children with Down syndrome are born with congenital heart defects. Babies with congenital heart conditions are treated by pediatric cardiologists, doctors who specialize in diagnosing and treating heart problems. Treatment is based on the severity of the child's heart condition.
Some mild heart defects don't require any treatment. Others can be treated with medications, interventional procedures, or surgery. Surgery may be necessary to treat upper neck abnormalities and stomach problems. Most of the educational therapies used to address the core symptoms of Down syndrome are provided through programs run by states and local school systems. Most children with Down syndrome can spend at least some of their time in a general education classroom with typically developing peers but some children can benefit from a smaller setting with more individual support.
The average life span for people with Down syndrome has increased dramatically since the early s. On average, people with Down syndrome live to about 55 to 60 years of age and some live into the 70s or 80s. With the help of specialized educational programs and support, many children with Down syndrome learn and grow successfully.
This is called a false-negative test result. A false-positive result can cause stress and lead to unnecessary testing such as chorionic villus sampling [CVS]. Many women who have a positive screening test result are actually carrying a healthy baby.
A "positive" result means that there is a higher-than-average chance your baby has Down syndrome or trisomy If the result is "negative," it means that your baby probably doesn't have those birth defects. But it doesn't guarantee that you will have a normal pregnancy or baby. Your doctor may tell you the result of your test as a set of numbers. Doctors often use a certain number as a cutoff for a positive result. For example, your doctor may say the cutoff is 1 out of This means that if your result is 1 out of or 1 out of a number less than such as 1 out of , you have a positive result and your baby has a higher chance of a birth defect.
If your result is 1 out of , this means that you have a negative result and your baby has a lower chance of a birth defect. If you have a positive test result, your doctor may want you to have the diagnostic test chorionic villus sampling CVS or an amniocentesis test in the second trimester to find out if your baby has a problem. But it's your choice whether to have another test. If you have a negative result, you may choose not to have any more tests.
Deciding whether to have a test for birth defects is a personal decision. And it can be a hard choice. You need to think about what the results of a test would mean to you and how they might affect your choices about your pregnancy.
If you choose to have a test, you may want to talk with a genetic counsellor. The counsellor can talk with you about the reasons to have or not have the test. He or she can also help you find other resources for support and decision-making. Author: Healthwise Staff. This information does not replace the advice of a doctor.
Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use and Privacy Policy. Learn how we develop our content. To learn more about Healthwise, visit Healthwise. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. Top of the page. Topic Overview What is the first-trimester screening for birth defects?
Nuchal translucency test.
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