Can 4d ultrasound detect down syndrome
Can Ultrasound pick up Down's Syndrome?
One of the biggest concerns for expecting mothers is around the health of their baby. Fortunately there are a number of different scans and tests available to help predict the overall wellness of their baby. This is so they can prepare themselves for when the baby is born and if the baby will need any further medical attention after birth. On the contrary, if a pregnancy screens low risk for abnormalities, it puts the parents minds at ease knowing that their baby is healthy and safe.
Down Syndrome occurs in 1 of 546 births in Ireland. Down Syndrome is diagnosed when a baby is born with an extra copy of chromosome 21. The exact cause of the extra chromosome that triggers this is still unknown. This extra gene is what changes the development of the brain and body. It can result in this person finding it harder to understand and learn new things. They may also struggle with everyday tasks and may experience social issues too. Babies who are affected by Down Syndrome often have distinctive facial features. Many Down Syndrome children can suffer from other health issues like heart conditions and hearing and vision problems too. Most of these can often be treated and shouldn’t be a major concern. For most people with Down Syndrome, they will live a good quality of life and go on to live until they are 60 plus. With the right support and care they can live semi-independently, get a job and have relationships.
First Trimester Screening
All women who are pregnant have a small risk of their baby being born with Down Syndrome, however maternal age is a factor when considering risk. The older the mother, the higher the chances are of having a baby with Down Syndrome. Using a combination of maternal age, presence or absence of major fetal abnormalities on ultrasound, Nuchal Translucency (NT) – fluid measurement behind the fetus’ neck, and the level of two proteins in their blood (Free-ß-hCG and PAPP-A), we can calculate the chances of the pregnancy being affected by T21 or T18/T13.
The best time to perform this test is between 10 – 14 weeks into pregnancy. The model that we use at The Ultrasound Suite (along with the Bray Women’s Health Centre) is by taking a maternal blood specimen at 10 weeks and an ultrasound scan (which is usually done at 12 weeks). The biochemistry results can then be made available at the time of the NT scan and the combined test result can be calculated at the time of the appointment. This test will pick up 94% of cases affected by Down Syndrome.
Non Invasive Prenatal Testing (Nipt)
This form of testing analyses cell-free fetal DNA that is present in the mother’s blood. It’s a new form of screening for Down Syndrome but also other conditions such as Edwards syndrome and Patau syndrome too. It can also test for X and Y chromosome conditions. This blood test can be performed from 9 weeks onwards and must be performed in conjunction with a dating ultrasound. NIPT has the highest accuracy rate for assessing fetal trisomy risk and can identify more than 99% of fetuses with Trisomy 21.
Detailed Anomaly Scan
A Detailed Anomaly Scan usually takes place around 19 – 23 weeks into the pregnancy. It creates a 2 dimensional black and white image that checks for major physical anomalies in the baby. This scan is probably the most important scan that takes place during a pregnancy as the fetus is the perfect size for all the organs to be assessed to see whether the baby has an obvious defect such as spina bifida or a cleft palate. There are many ultrasound features that can be identified to detect if Down Syndrome is present. Please note that the anomaly scan cannot detect all abnormalities and syndromes. Only 50% of Down Syndrome fetuses can be detected at the Detailed Anomaly Scan.
Diagnostic Testing
Amniocentesis or Chorionic Villus Sampling (CVS) are procedures performed by specially trained health professionals – usually Fetal Medicine Specialists. A CVS is normally performed between 11-13 weeks. It involves taking a small sample from the placenta for testing.
Amniocentesis is performed after 15 weeks, whereby a sample of amniotic fluid is taken for testing, also using a needle. Both of these tests are done under continuous ultrasound guidance. They should not be offered to women who are at age-related risk alone. Due to the invasive manner of this testing, it is estimated that 1 in 100 women who undergo amniocentesis or CVS will miscarry. They should only be offered to women where there is a history of Down Syndrome, a previous pregnancy with a chromosomal abnormality or if any of the above mentioned ultrasound tests show a high risk for an anomaly.
Ultrasound scans aren’t a full-proof way of testing for Down syndrome in babies. They can detect some indications of potential markers that are commonly seen in Down Syndrome babies but can’t give a definitive answer. A Detailed Anomaly Scan done at 20 weeks can only detect 50% of Down Syndrome cases. First Trimester Screening, using bloods and Nuchal Translucency measurement, done between 10-14 weeks, can detect 94% of cases and Non-invasive Prenatal Testing (NIPT) from 9 weeks can detect 99% of Down Syndrome cases.
Only invasive tests (Amniocentesis and Chorionic Villus Sampling) can clinically confirm the presence of Down Syndrome in a baby. It’s important to note that up to 1 in every 100 women who receive invasive testing will miscarry. So it’s important to think it through before undergoing this form of testing.
3 questions to ask about Down syndrome testing during pregnancy | Your Pregnancy Matters
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Your Pregnancy Matters
September 10, 2019
Your Pregnancy Matters
Robyn Horsager-Boehrer, M.
D. Obstetrics and Gynecology
In July, Olympic gold medal-winning gymnast Shawn Johnson East and her husband, NFL player Andrew East, shared a personal video about their pregnancy – and their doctor's concerns that their developing baby might have Down syndrome.
Around the eight-minute mark of the video, Shawn and Andrew discuss the moment their doctor discovered two concerning findings at their 20-week ultrasound: the baby's kidneys were dilated (a little more urine visible than normal), and the umbilical cord had just two blood vessels instead of three, which is also called having a single umbilical artery.
Neither condition is rare – 3% of normal fetuses have mild increases in fluid in their kidneys and about 1% of all fetuses have a single umbilical artery.
However, having the two findings might be indicative of Down syndrome.
I was struck by her use of the word “helpless” to describe how they felt in that moment, adding to the stress they already were feeling having previously gone through a miscarriage. Shawn said that as "control freak" athletes and new parents, it was difficult to accept that there was nothing they could do to improve their baby's health. However, they could pursue genetic testing if they wanted to know for sure. They opted for testing, and the couple recently shared that their testing came back negative for genetic anomalies – their baby does not have Down syndrome.
As a maternal-fetal medicine specialist (MFM), I often see patients who have to make decisions like Shawn and Andrew did. Their story inspired me to share three basic questions to ask if your provider is concerned your baby might have Down syndrome.
1. Why do you think my baby is at risk for Down syndrome?
There are multiple reasons your doctor might be concerned about Down syndrome, the most common of which is the age of the mother.
Research has shown that as women age, their eggs tend to develop more chromosomal anomalies.
Your doctor might also be concerned if you had an abnormal screening, such as:
- Cell free fetal DNA screen. Also known as non-invasive prenatal testing or screening (NIPT/NIPS), this screening examines DNA fragments in a pregnant woman's blood for potential indicators of a genetic condition. Many patients are choosing to have this test as part of routine prenatal care in the first trimester, even if they are at low risk for Down syndrome.
- First trimester nuchal translucency screen. This ultrasound exam measures the amount of fluid at the back of the baby's neck. Excessive fluid can indicate a risk for Down syndrome. Adding in results from blood work gives you a numerical risk for having a baby with Down syndrome.
- Second trimester multiple marker screen. This test measures risk factors associated with levels of specific substances in a pregnant woman's blood that come from the placenta, the baby, or both.
- Ultrasound. As in Shawn's case, certain physical findings seen on an ultrasound might be associated with Down syndrome.
2. Do you want to know for sure before delivery?
It comes down to your level of concern about the results. I've had plenty of patients who opt for Down syndrome screening and, when the results show elevated risk, decide not to pursue diagnostic testing. That decision is completely OK.
However, you might want to have more certainty whether your child has a genetic condition and potentially which one. Some patients choose to undergo genetic testing to get more information and feel more prepared, while others prefer not to know for their own personal reasons. It's entirely the parents' choice.
If you do want to know more, we can perform further testing. Talk to your provider, who can recommend the most appropriate test. Certain diagnostic tests are available only during certain trimesters and some carry a risk of pregnancy loss.
Also, keep in mind that some tests require a longer waiting period to return results.
3. What options are available for my stage of pregnancy?
Below are the diagnostic testing options available during the first and second trimester if screening suggests an increased risk for Down syndrome. We do not screen for Down syndrome after the second trimester, but invasive testing can be performed in the third trimester if new ultrasound findings that are worrisome are found later in pregnancy.
In the first trimester, you can consider a diagnostic test such as chorionic villus sampling, which is a biopsy of placental tissue. We usually don’t recommend having another screening test after you've already had a positive one. However, I’m seeing more patients select cell free fetal DNA screening to avoid the risks of invasive testing.
If your pregnancy was considered low risk for Down syndrome but you had an abnormal NIPT, I’d recommend using this positive predictive value calculator from the National Society of Genetic Counselors to estimate the risk.
Enter the condition for which your test came back positive (such as Down syndrome) and the age you’ll be at delivery. The calculator will give you the probability that the NIPT result was right and that your baby has Down syndrome. Young women are often surprised to learn that even though their test came back abnormal, the true risk of their baby having Down syndrome is less than 50%.
In the second trimester, you can consider amniocentesis (analyzing the fluid around the baby) or fetal blood sampling. These tests provide the most complete information but do carry a small risk (less than 1 in 300 for amniocentesis) of pregnancy loss. As such, many patients who have an abnormal second trimester screen opt for less-invasive NIPT over diagnostic testing.
Dr.
Robyn Horsager-Boehrer explains step-by-step what obstetricians are looking for when they conduct 18- to 20-week ultrasounds on pregnant women. You'll see as they check for birth defects such as Down syndrome and spina bifida.
A word about abnormal ultrasound screenings
Counseling patients about abnormal ultrasound findings is more complex than discussing next steps after abnormal screening results. Recommendations in this scenario must be tailored to the specific abnormality the provider sees.
Some abnormalities, such as mild fluid collections in the kidneys and a small or absent nose bone are considered soft markers for Down syndrome, which means the trait is associated with but not necessarily indicative of the condition. Some of these markers are more indicative of a higher risk of Down syndrome, such as increased fluid buildup in the back of the neck.
If you have your full ultrasound report and want to learn more, consider entering the findings in this Down syndrome risk calculator from Perinatology.
Here, you can use the cumulative findings to estimate the risk for the condition and help you decide whether to pursue genetic testing.
We typically don’t suggest another round of non-invasive testing when we see major anomalies unless we have a good idea of which genetic condition might be affecting the baby. Diagnostic testing for total number of chromosomes, as well as changes like small additions or deletions, will gives you more information in the setting of fetal abnormalities.
However, rapid advances in non-invasive testing are changing recommendations. If you're concerned, talk with an MFM about next steps that might include advanced diagnostic testing.
Like Shawn Johnson East, you might be nervous or worried about your pregnancy due to positive results from a Down syndrome screening. Whether you want to know more or you'd prefer not to pursue further testing, you can reach out to us for information, answers, and support at any point during your pregnancy.
To visit with an maternal-fetal medicine specialist, call 214-645-8300 or request an appointment online
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More Articles
Signs of Down syndrome visible on 4D ultrasound
Pregnancy control was very difficult before ultrasound. Undoubtedly, it was ultrasound that revolutionized obstetric medicine. The opportunity to see the baby inside the uterus and make sure of its growth and development.
Ultrasound can detect many pathologies, from problems with malformations to certain conditions. Then Signs of Down syndrome are visible on 4D ultrasound and let you know this condition from pregnancy in order to come to childbirth more prepared. nine0003
There are different types of ultrasound because the technology is constantly evolving and evolving. Today, in addition to the traditional 2D or two-dimensional ultrasound, a 3D or three-dimensional ultrasound is added, which allows you to see the volume of the child. And among the latest generation of ultrasound is 4D ultrasound, which shows the child in all its dimensions, adding the ability to see the movements of the child in the womb in real time.
Index
- 1 What is Down syndrome
- 2 4D ultrasound
- 3 Features of Down Syndrome on 4D Ultrasound
What is Down Syndrome
Down Syndrome is a chromosomal disorder that causes mental retardation with certain physical characteristics and is accompanied by various health problems such as heart defects, hearing loss and thyroid disease .
Under normal conditions, a person has 46 chromosomes in each cell, divided into 23 pairs.
Chromosomes are parts of cells that contain genes, that is, DNA that carries genetic information from mother and father. DNA determines the personality characteristics of each person. Each pair contains one chromosome from the mother and one from the father. Those who suffer from a change in chromosome 21 have an extra copy of this chromosome, meaning they have an extra chromosome. nine0003
4D Ultrasound
Given the evolution in the development of ultrasound, 4D allows access to more information about the health of the baby in the womb. Although this ultrasound can be done any time after 12 weeks of pregnancy, it is recommended to do it between 24 and 30 weeks of gestation for the best images as the baby is developed but at the same time it has not reached its final size so it looks whole on the images (torso and limbs), and not in sections.
nine0002 On the other hand, due to the amount of amniotic fluid in the fetus, it can be seen better, because it is the fluid that allows the transmission of ultrasonic waves.
If there is too little liquid, the image will be of poorer quality.
In addition to the 4D ultrasound allows you to see the baby in three dimensions and in real time, this ultrasound does not replace the mandatory 2D ultrasound. Most likely, if an abnormality of the 21st chromosome is found, signs of Down syndrome, visible on 4D ultrasound can be observed more accurately.
Features of Down Syndrome on 4D Ultrasound
Those who come for 4D ultrasound with suspected Down Syndrome have probably already had an ultrasound at 12 weeks, where any anomaly can already be detected. It is then that the so-called nuchal fold is performed, a study in which the nuchal fold is measured, since it is an important ultrasound marker for genetic changes such as Down syndrome. This study also examines the nasal bone, ductus venosus, and tricuspid valve, as well as some fetal organs, limbs, skull, stomach, bladder, and abdomen. Probabilities are analyzed on the basis of the observed.
nine0003
Article subject:
Physical and cognitive characteristics in children with Down syndrome
signs of Down's syndrome seen on 4D ultrasound They help to confirm the diagnosis, as this ultrasound examines the child in all its dimensions, and also more clearly shows its appearance and physical features. 4D ultrasound allows you to clearly see the morphology of the fetus. It can also detect possible heart disease and congenital malformations. Even with it, you can detect a cleft lip and defects in the formation of the ears and the position of the feet, for example, the so-called "clubfoot". However, in the case of Down syndrome. this will be the enlightenment of the collar space or amniocentesis, which will be able to make a more accurate diagnosis. nine0003
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You may be interested
Diagnosis of Down's syndrome according to ultrasound, timing of the examination, signs of fetal chromosomal pathology
Down syndrome can be diagnosed already in early pregnancy according to fetal ultrasound (ultrasound) .
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.
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.
Diagnosis 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 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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