Signs of down syndrome while pregnant
Screening for Down syndrome | Pregnancy Birth and Baby
Screening for Down syndrome | Pregnancy Birth and Baby beginning of content5-minute read
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If you or someone you care about has a child with Down syndrome, or is pregnant with a Down syndrome baby, you may have many questions or feel overwhelmed by what this means. The most important thing that babies with Down syndrome need — just like any baby — is a loving, secure environment in which they feel nurtured and supported.
What is Down syndrome?
Down syndrome is the most common chromosomal condition that a baby can be born with. Around 1 in every 1,000 babies born in Australia has Down syndrome.
Down syndrome is also known as Trisomy 21. People with Down syndrome usually look different from other people and may have some difficulty learning new things.
What causes Down syndrome?
Normally, every cell in the human body — except egg and sperm cells — has 46 chromosomes. The egg and sperm cells normally have 23 chromosomes each.
The most common cause of Down syndrome is when an extra copy of chromosome 21 randomly appears in either the egg or sperm. At conception, when the egg and sperm meet, the extra copy of chromosome 21 grows throughout all of the embryo’s cells, giving them each 47 chromosomes instead of the usual 46.
Less commonly, the extra copy of the chromosome can appear in some of the embryo’s cells after conception. This is called mosaicism and results in some cells having 46 chromosomes and some having 47.
Another rare form of the syndrome is caused by ‘Robertsonian translocation’. This occurs when a piece of chromosome 21 breaks off and becomes joined to another chromosome before or after conception. In this case, the embryo’s cells will all have 46 chromosomes, but each cell still contains an extra copy of chromosome 21.
What are the most common features of Down syndrome?
Many babies with Down syndrome have one or more of the following features at birth:
- low muscle tone ('floppy' muscles)
- a flatter face with eyes slanting upward
- small ears and a wider neck than usual
- a single crease across the palm of the hand
- a gap between the first and second toes
Down syndrome is also associated with intellectual disability.
However, not everyone with Down syndrome will have all of these features.
What medical complications might come with Down syndrome?
About 1 in every 2 babies born with Down syndrome will have heart problems and approximately 1 in 10 will have gastrointestinal (gut) problems. Hearing and vision problems are also more common in people with Down syndrome.
How is Down syndrome diagnosed?
Pregnant women are offered routine antenatal tests at different times during pregnancy and for different reasons.
These include screening tests, such as ultrasounds and blood tests, that can help estimate your baby’s risk of being born with a range of conditions, including Down syndrome.
Non-invasive prenatal testing (NIPT) is a new blood test that can be done as an alternative screening test.
Diagnostic tests (such as chorionic villus sampling or amniocentesis) will show whether a baby actually has Down syndrome.
After the baby is born, chromosome testing from a blood sample, may be done to confirm Down syndrome.
What is the treatment for Down syndrome?
There is currently no way to prevent or cure Down syndrome. Prenatal testing allows you and your family to make informed decisions, including ending the pregnancy. For this reason, before you have the test it’s a good idea to think about why you are choosing to do it, and how you will feel once you get the results.
Consider also who you want to discuss any important decisions with — your partner, a friend or family member, or a health professional such as your doctor or midwife are all good options.
Early diagnosis can also help you and your doctor continue to check your baby for complications and to act early if needed. Some people with Down syndrome may need surgery to repair heart defects or gut blockages. Medicines to treat thyroid disease may also be needed in some cases.
Children all learn and develop at their own pace. However, there are effective early intervention programs for children with Down syndrome that can help them reach their learning potential.
Resources and support
Down Syndrome Australia provides support, information and resources for people with Down syndrome and their families across Australia.
Support services include:
- information and advice about Down syndrome
- information about local support groups
- home visits
- new parent packs
- workshops and webinars
- online support groups for you and your family
A national phone number (1300 881 935) can connect you with your local state or territory Down syndrome organisation for further information.
Speak to a maternal child health nurse
Call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Available 7am to midnight (AET), 7 days a week.
Sources:
Centre for Genetics education (Trisomy 32 - Down Syndrome), Lab Tests Online (Down syndrome), Down Syndrome Australia (Prenatal and New Parent)Learn more here about the development and quality assurance of healthdirect content.
Last reviewed: March 2022
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Related pages
- Caring for a child with Down syndrome
- What is Down syndrome?
- Questions to ask your doctor about tests and scans
- Routine antenatal tests
- Pregnancy checkups, screenings and scans
Need more information?
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Read more on Prenatal Screening - Down Syndrome Queensland website
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Read more on RANZCOG - Royal Australian and New Zealand College of Obstetricians and Gynaecologists website
Non-invasive prenatal testing (NIPT)
A non-invasive prenatal test (NIPT) is a sensitive test to screen for Down syndrome and some other chromosomal disorders early in pregnancy.
Read more on Pregnancy, Birth & Baby website
What it's like to Receive an Unexpected Result - Prenatal Screening
Support through the Down Syndrome Queensland support service is available for any prospective parent, health care professional, community service, carer or family members supporting someone who has received unexpected news about their pregnancy
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Support through the Down Syndrome Queensland support service is available for any prospective parent, health care professional, community service, carer or family members supporting someone who has received unexpected news about their pregnancy
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Maternity Consumer Network Patient Information Brochure - Prenatal Screening
Support through the Down Syndrome Queensland support service is available for any prospective parent, health care professional, community service, carer or family members supporting someone who has received unexpected news about their pregnancy
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What is Down syndrome?
Down syndrome is a genetic disorder characterised by mental and developmental impairments.
Read more on Pregnancy, Birth & Baby website
What is Down syndrome? – Down Syndrome Australia
Down syndrome is a genetic condition and is also sometimes known as trisomy 21. 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
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Testing for Down Syndrome During Pregnancy
Written by WebMD Editorial Contributors
In this Article
- Screening Tests
- Diagnostic Tests
- Genetic Counseling
When you find out you’re pregnant, one of the best things you can do is start prenatal care -- a series of routine visits with your doctor or a certified nurse midwife to check on the health of you and your baby.
You can ask questions about what to expect, and you’ll get advice on how to best care for yourself. Your doctor will also look for any problems, so you can catch and treat them as early as possible.
During the first trimester of pregnancy, there are two types of tests you can get to check for any problems with the fetus:
- Screening tests tell you how likely it is that your baby has Down syndrome. For example, you may find out that there’s a 1 in 100 chance that your baby has it.
- Diagnostic tests tell if your baby actually has it -- it’s a clear yes or no.
There are pros and cons to both types of tests. Screening tests don’t give you a definite answer, but diagnostic tests have a small risk of causing a miscarriage. Typically, you might start with a screening test. Then, if it looks like Down syndrome is a possibility, you might get a diagnostic test. These tests should be conducted alongside prenatal counseling to understand their results.
It’s your choice which tests to get, and you don’t have to get any of them. Some parents want to find out because they feel it will help them get ready. Others don’t feel they need to know. If you’re not sure what to do, your doctor or a genetic counselor can help.
Screening Tests
There are a few types of screening tests you can get.
First trimester combined test. You typically get this one sometime between the 11th and 14th week of pregnancy. It has two parts:
- A blood test looks for what doctors call “markers,” meaning proteins, hormones, or other substances that could be a sign of Down syndrome.
- Ultrasound looks at the fluid in an area of the baby’s neck called the “nuchal fold.” If the fluid level is higher than normal, it could be a sign of Down syndrome.
Integrated screening test. For this one, you get two tests taken at different times. The first one is just like the first trimester combined test.
Then, during weeks 15-22, you get another blood test called the “quad screen.” It looks for four different markers that could be signs of Down syndrome.
If you want to be a little more certain of the results, you’d get this test instead of just the first trimester combined test.
Cell free DNA. DNA is what your genes are made of, and some DNA from the fetus ends up in the mother’s blood. This test looks at that DNA for signs of Down syndrome. You can get this test starting at 10 weeks, but it’s mainly used for women who are more likely to have a baby with Down syndrome.
Diagnostic Tests
These types of tests look at the baby’s chromosomes to check for Down syndrome. A “positive” result means your baby most likely has Down syndrome. A “negative” means your baby most likely doesn’t have it. Diagnostic tests have some risk of causing a miscarriage.
Amniocentesis (“amnio”) tests a sample of amniotic fluid, which surrounds your baby in the womb.
Your doctor gets the sample by placing a needle through your belly.
There is a slight risk of miscarriage -- about 0.6% -- with a second-trimester amnio, while research shows the risk being higher before 15 weeks of pregnancy.
Chorionic villus sampling (CVS) tests cells from the placenta, which passes nutrients from mother to baby. Your doctor gets the cells either through your cervix or with a needle through your belly. It can be done at 10 to 12 weeks -- earlier than you can get an amnio -- but has a slightly higher chance of causing a miscarriage or other problems.
Cordocentesis, also called “percutaneous umbilical blood sampling,” or PUBS, is done at 18 to 22 weeks. Your doctor uses a needle to take blood from the umbilical cord. This procedure has about a 1.4% to 1.9% chance of miscarriage , more than the other tests, so it’s only done if the others don’t give clear results.
Genetic Counseling
If you need help understanding the results, you might want to talk to a genetic counselor.
They’re highly trained in genetic conditions, as well as helping people talk through challenging issues.
They can speak to you about risks, walk through possible results, and help you figure out which tests might make the most sense for you. If you have a higher risk of having a baby with Down syndrome, you might want to talk to a genetic counselor before you get pregnant, but it can be very helpful after, too.
Diagnosis of Down's syndrome according to ultrasound, timing of the examination, signs of fetal chromosomal pathology
It is possible to diagnose Down's syndrome already in the early stages of pregnancy according to ultrasound examination (ultrasound) of the fetus . The method is based on the use of high-frequency sound, which is reflected from various surfaces with different intensities. Deciphering the signals allows the doctor to create a two-dimensional image of the internal structure of the area under study. nine0003
Is it possible to detect Down syndrome by ultrasound
Down syndrome in the fetus is diagnosed by ultrasound in 60-90% of cases.
High accuracy of the examination is achieved by comparing the development of the fetus with the norm. In addition to Down syndrome, ultrasound can detect signs of a number of other genetic malformations. Pathologies in the structure of the heart, incomplete rotation of the intestine, duodenal atresia can also serve as signs of Down syndrome in the fetus, all these malformations are recorded by ultrasound. nine0003
Tests before marriage
Down syndrome is observed in one case in 700-800 pregnancies and is characterized by the presence of an extra 21st chromosome. The syndrome affects the future life of the child.
The possibility of having a child with Down syndrome increases with the age of the parents. In addition, the risk of a chromosomal abnormality increases significantly if one of the parents already has Down syndrome. In some cases, the pathology is mosaic in nature and may be invisible even to very close people. nine0003
Down's syndrome is reliably diagnosed in the perinatal period using ultrasound and a number of other methods.
How does Down syndrome manifest itself after birth?
Children with Down syndrome have a number of external differences. Their faces are flatter, with a slightly pronounced bridge of the nose and an epicanthal fold at the inner corners of the eyes. The skull of the child is shortened, with a flat occiput.
After birth, children with Down syndrome are somewhat behind in physical and mental development. Over time, the mental retardation, in comparison with other children, will be more and more noticeable. nine0003
In addition, people with Down syndrome are more likely to suffer from congenital heart defects (occur in almost 40% of cases). The presence of an extra chromosome significantly increases the risk of developing some other diseases: cataracts, Alzheimer's, myeloid leukemia, and often there are disorders in the digestive system. Weakened immunity makes people with the syndrome more vulnerable to viruses and colds.
Methods for diagnosing chromosomal abnormalities
Chromosomal abnormalities can be diagnosed by non-invasive and invasive methods.
The first allow you to establish a number of pathologies characteristic of chromosomal abnormalities. Invasive methods are used to make an accurate diagnosis. nine0003
ultrasound
Establishing the risk of Down syndrome in a fetus by ultrasound is called ultrasound screening. Often the method is used in combination with a biochemical analysis of the mother's blood. The accuracy of diagnosing Down syndrome on ultrasound in the second trimester of pregnancy can reach 91%. The examination is carried out at 11-13 and 16-18 weeks of pregnancy.
Invasive techniques
Invasive prenatal diagnosis can lead to a number of complications. The risk to the fetus and mother is small. However, the procedure is prescribed only if necessary, if Down's syndrome in the fetus is confirmed by ultrasound data and maternal blood tests. nine0003
Biochemical screening
The main task of screening is to identify risk groups in terms of having a child with serious illnesses, including those with chromosomal disorders.
Biochemical screening is recommended for all women in the first and second trimesters of pregnancy.
Diagnostics in the first trimester of pregnancy
In the first trimester of pregnancy, Down syndrome can be diagnosed by ultrasound, due to the presence of a number of pathologies. These include an increased thickness of the nuchal space in the fetus, reduced, compared with the norm, the size of the cerebellum and frontal lobe, impaired bone formation, heart defects, absence of the nasal bone, etc.
It is important to remember that no single marker will be considered sufficient for a reliable diagnosis of Down syndrome - there is not enough ultrasound data for this. Therefore, having received the results of the examination, you do not need to be upset ahead of time - you need to consult a specialist.
What to do if the diagnosis is confirmed?
Examination can show pathology in the fetus. It is up to the parents to decide what to do next.
If they are ready for responsibility, then, even if Down syndrome is confirmed by ultrasound and invasive research methods, parents can leave the child. Despite the peculiarities of development, he can live a long and happy life. In cases where there are too many pathologies, doctors may recommend terminating the pregnancy. However, even in this case, the decision will be made by the parents. nine0003
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Screening tests for Down syndrome in the first 24 weeks of pregnancy
Relevance
Down syndrome (also known as Down syndrome or Trisomy 21) is an incurable genetic disorder that causes significant physical and mental health problems and disability. However, there is great variation in how Trisomy Down affects people. Some individuals have severe suffering, while others have little problems and are able to lead relatively normal lives. There is no way to predict how badly each child may be affected. nine0003
Parents-to-be are given the option of taking a Down test during pregnancy to help them make decisions.
If a pregnant woman is carrying a child with Down syndrome, then a decision must be made whether to terminate or continue the pregnancy. This information offers parents the opportunity to plan for life with a Down child.
The most accurate tests to detect Down include testing of amniotic fluid (fluid around the fetus, amniocentesis required) or placental tissue (chorionic villus biopsy (CVS)) for abnormal chromosomes associated with Down. Both tests require the insertion of a needle into the mother's abdomen and increase the risk of miscarriage. Thus, the tests are not suitable to be given to all pregnant women. Instead, screening uses tests that measure markers in the mother's blood, urine, or baby's ultrasound. These screening tests are not perfect, they can miss cases of Down and also give a "high risk" result to some women whose children do not have Down. Thus, pregnancies identified as Down's "high risk" pregnancies using these screening tests require further testing by amniocentesis or CVS to confirm a Down's diagnosis.
nine0003
What we did
The aim of this review was to find out which of the screening tests done during the first 24 weeks of pregnancy are most accurate in predicting the risk of Down pregnancy. We studied 7 different urinary markers that can be used alone, in ratios, or in combination taken up to 24 weeks of gestation. This cumulatively creates 24 screening tests for Down. We found 19 studies involving 18,013 pregnant women, of which 527 were pregnancies with Down syndrome. nine0032
What we found
Evidence does not support the use of urine tests to screen for Down syndrome during the first 24 weeks of pregnancy. The amount of evidence is limited. These tests are not offered in routine clinical practice.
Other important information to consider
Urine testing itself has no side effects for the woman. However, some women who have a "high-risk" screening test result and who are undergoing amniocentesis or CVS are at risk of having a non-Down's syndrome non-parous baby (healthy miscarriage).
