Should i screen for down syndrome

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. You may wish to find out early in your pregnancy if your baby is at increased risk of a serious health condition by having a screening test in your first trimester the first 3 months of pregnancy.

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This information is for your general information and use only and is not intended to be used as medical advice and should not be used to diagnose, treat, cure or prevent any medical condition, nor should it be used for therapeutic purposes. The information is not a substitute for independent professional advice and should not be used as an alternative to professional health care. If you have a particular medical problem, please consult a healthcare professional.

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Pregnant woman getting an ultrasound - Screening for Down syndrome. There is a total of 5 error s on this form, details are below. This test will tell you for sure whether your baby has Down syndrome. During a blood test, a health care professional will take a blood sample from a vein in your arm, using a small needle.

After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes. For the first trimester ultrasound, a health care provider will move an ultrasound device over your abdomen. The device uses sound waves to look at your unborn baby. Your provider will check for thickness at the back of your baby's neck, which is a sign of Down syndrome.

There are no special preparations needed for Down syndrome testing. But you should talk to your health care provider about the risks and benefits of testing. 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. Down syndrome screening results can only show if you have a higher risk of having a baby with Down syndrome, but they can't 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. 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. Raising a child with Down syndrome can be challenging, but also rewarding. Getting help and treatment from specialists early in life can help your child reach his or her potential.

Many children with Down syndrome grow up to lead healthy and happy lives. Talk to your health care provider and genetic counselor about specialized care, resources, and support groups for people with Down syndrome and their families. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Down Syndrome Tests. What are Down syndrome tests?

People normally have 46 chromosomes, divided into 23 pairs, in each cell. One of each pair of chromosomes comes from your mother, and the other pair comes from your father. In Down syndrome, there is an extra copy of chromosome The extra chromosome changes the way the body and brain develop. What are the tests used for? Why do I need a Down syndrome test? These include: Flattened face and nose Almond-shaped eyes that slant upward Small ears and mouth Tiny white spots on the eye Poor muscle tone Developmental delays.

What are the different types of Down syndrome tests? There are two basic types of Down syndrome tests: screening and diagnostic tests. About one in every 20 women screened will be in this group. Most women with screen-positive results do not have a pregnancy with Down syndrome.

For example, of about 50 women with screen-positive results for Down syndrome, only one would have an affected pregnancy. A screen positive result means that you are in a group with an increased likelihood of having a baby with an open neural tube defect. If the result is screen positive, you will be offered an ultrasound examination after 16 weeks of pregnancy, and possibly an amniocentesis.

The result is screen positive when the AFP level is equal to or higher than two times the normal level for your stage of pregnancy. If the likelihood of Down syndrome based on the First Trimester Test is lower than one in , then the result is called screen negative, and a diagnostic test is usually not offered.

If the likelihood of Down syndrome based on the Integrated Test is lower than one in , and the AFP level is less than two times the normal level for your stage of pregnancy, then the result is called screen negative, and a diagnostic test is usually not offered. Although a screen negative result means that your likelihood of having a baby with Down syndrome is not high, a screen negative result cannot rule out the possibility of a pregnancy with Down syndrome.

About eight or nine out of 10 cases of Down syndrome are detected classified as screen positive. This means that one or two out of 10 pregnancies with Down syndrome are missed classified as screen negative.

With the Integrated Test, about four out of five cases of spina bifida are detected, and one out of five is missed. Nearly all cases of anencephaly are detected. It is uncommon for a woman to have a baby with Down syndrome or an open neural tube defect, and it is even more uncommon for a woman with a screen negative result, but it does sometimes happen.

This is because the screening test cannot completely distinguish affected from unaffected pregnancies. However small the likelihood is, the test cannot completely rule out the possibility of the baby having Down syndrome or open neural tube defect. Any woman may have a baby with Down syndrome, but the chance increases as a woman gets older. Therefore, we use age as one of the factors when assessing your likelihood of having a pregnancy with Down syndrome.

It means that an older woman is more likely to have a result screen positive and will therefore be offered a diagnostic test.

For example, for women under the age of 35 about 4 percent will be screen positive, while in women who are 35 or older about 15 percent will be screen positive. Overall, about 5 percent of women will be screen positive, and about 85 percent of Down syndrome pregnancies will be identified with the First Trimester Test. Overall, about 1 percent of women will be screen positive with the Integrated Test. Yes, the likelihood of another chromosome abnormality, trisomy 18, can be estimated in First Trimester Screening and with the Integrated Test.

Trisomy 18 also known as Edwards syndrome is a usually fatal abnormality caused by the presence of an extra chromosome number 18 in the cells of the developing baby. In the absence of screening, about one in every 7, babies is born with trisomy If your chances are high, you are offered another ultrasound examination and an amniocentesis.

This is arranged by your health care provider. The first-trimester screening detects about six out of 10 pregnancies affected with trisomy If the test is screen positive, you will be offered a diagnostic test, usually chorionic villus sampling CVS or possibly an amniocentesis.

The diagnostic test will determine whether or not the pregnancy is actually affected. CVS is offered early in pregnancy usually between 10 and 13 weeks. It involves taking a sample of placental tissue using local anesthetic either by inserting a needle through your abdominal wall or by passing a fine instrument through the cervix. CVS is performed under the guidance of an ultrasound scan and does not involve a stay in the hospital. The CVS sample contains cells that can be used to tell whether or not the baby has Down syndrome.

A result is usually ready within one to two weeks. There is a small risk associated with the CVS procedure. About 1 percent of women who have CVS will have a miscarriage as a result of the procedure. It depends on your particular result. If the test is screen positive for Down syndrome or at increased likelihood for trisomy 18 or Smith-Lemli-Opitz syndrome, an amniocentesis procedure will be offered, sometimes accompanied by a detailed ultrasound examination.

If the test is screen positive for open neural tube defects, a targeted ultrasound examination is most commonly offered, although amniocentesis is often suggested as well. An amniocentesis is a procedure in which the doctor obtains a small sample of fluid that surrounds the developing baby by passing a fine needle through the abdominal wall and into the uterus, under the guidance of an ultrasound scan.