They are: The screening results can either alert you and your healthcare provider to an increased risk for one of these chromosomal disorders, or reassure you that your baby is at a lower risk for them. To detect the chance of down syndrome, the 2 types of tests are combined based on the mothers age. During the 12-week ultrasound, your doctor will: While you may be dying to know the sex of your baby, chances are you wont be able to see this in scans just yet. Dublin 2 The #1 app for tracking pregnancy and baby growth. The exam should take about 30 to 45 minutes, depending on the position of your baby. A CVS is normally performed between 11-13 weeks. This scan measures a tiny bit of fluid located behind the baby's neck, known as nuchal translucency. The doctor came in to do a second look and Babies who are affected by Down Syndrome often have distinctive facial features. In a standard pregnancy, this includes the 12-week ultrasound and the 20-week anatomy scan. If the result says that there is an increased chance of down syndrome, then diagnostic testing is offered. 21 CPCs are not associated with an increased risk of Down syndrome. After running this site for awhile, I am here to tell you that the vast majority of mothers who have a diagnosis presented to them are falling into the young mom down syndrome diagnosis category. You then take away a comprehensive report with all the results clearly documented. Has any one had the blood test positive for down syndrome but then ultrasound showed the baby fine? 2021. Victoria is not only thorough, calm, reassuring and clearly highly experienced, but the best part is that she explains everything as she does the scan so at 12 weeks we saw our babys heart, kidneys, stomach, brain etc. In addition to testing for Down syndrome (trisomy 21), the NT scan will also screen for: If your baby's nuchal translucency measurement indicates that they are at increased risk for structural defects, you'll be given a special ultrasound (also called an advanced level or level II ultrasound) and a special test called a fetal echocardiogram, both in the second trimester. For example, your likelihood of carrying a baby with Down syndrome ranges from approximately 1 in 1,200 at age 25 to 1 in 100 at age 40. Using a combination of maternal age, presence or absence of major fetal abnormalities on ultrasound, (NT) fluid measurement behind the fetus neck, and the level of two proteins in their blood (Free--hCG and PAPP-A), we can calculate the chances of the pregnancy being affected by T21 or T18/T13. []. Because a baby's nuchal translucency normally gets a bit thicker with each day of gestation, researchers have been able to establish how large the translucent area should be each day during the three weeks the screening can be performed. Many Down Syndrome children can suffer from other health issues like heart conditions and hearing and vision problems too. A CVS is normally performed between 11-13 weeks. The quad screen can predict risk of Downs Syndrome in conjunction with ultrasounds.Needs to be done between t My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Among the many terms you will learn and become familiar with is a nuchal scan. So if you find yourself in this position, do ring to make an appointment. Some of the patients who contact Beard Mill Clinic about the nuchal translucency scan do so because it hasnt been possible to measure the nuchal when they went for their routine NHS appointment. However, doctors today may recommend ultrasounds as early as 6 or 7 weeks so this might not be your first time seeing baby on the big screen. A 5-week ultrasound may show signs that the gestational sac and embryo are starting to develop. This is a newer method that is very sensitive to the screening of down syndrome. 7. After it is removed, the sample is checked for extra material from chromosome 21, which may indicate that a fetus has Down syndrome. Some practitioners also look for the presence of the fetal nasal bone during the NT scan. Down syndrome was first described by an English physician John Langdon Down in 1866, but its association with chromosome 21 was established almost 100 years later by Dr. Jerome Lejeune in Paris. It also explains the types of ultrasound procedures, questions to ask, and ways to prepare for your appointment. Due to the invasive manner of this testing, it is estimated that 1 in 100 women who undergo amniocentesis or CVS will miscarry. If there are concerns at this juncture, the options are available for more invasive testing like amniocentesis, if you so desire. Many centers will report each individual lab result as well as the final calculated result using a special formula. This soft marker has a higher correlation to Down syndrome than any other. This is called nuchal translucency screening . There is no pain, although pressure may be exerted to get the best picture using the handheld wand. 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. If youre nervous or just curious about what to expect, were here to provide answers to your questions. Pregnant women should always prioritize the safety of the baby. The NT grows in proportion to the baby. Through her training, she hasacquired a deep understanding of how the individual components of the screening tests work and endeavours to explain this as fully as she can. The scan is completed using the normal ultrasound equipment and using the wand over the stomach, as opposed to vaginally. The NT scan is an ultrasound done in the first trimester to determine your baby's risk of having Down syndrome and some other chromosomal abnormalities. 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The importance of down syndrome early detection is significant for both the baby and the mothers well-being. This usually occurs at random during the time of conception. Required fields are marked *. She is able to process blood samples within 24 hours, so will ring you the following day with the final result and then e-mail you your report. 12 Week Nuchal Translucency Scan and Blood Test. Doctors typically provide answers within 24 hours. Women in general, whatever the age have a slight risk of having a baby with physical, or cognitive disorder. This does not mean your baby will have Down syndrome, however. You'll want to talk with your practitioner or a genetic counselor about how to interpret the results, which can be confusing. Your healthcare provider will then discuss the results with you. This is often parents favourite scan you will be amazed at just how much detail you can see and if everything looks normal, the risk of miscarriage and major abnormality becomes very small. They should not be offered to women who are at age-related risk alone. when is the best to check it? Others include an enlarged space in the back of the neck, 1st trimester: nuchal translucency wider than normal. Learn how we can help. At this stage in the babys development it is normal for some fluid to build up in this space at the back of the babys neck it happens to every baby so a little bit of fluid is entirely normal, but a baby with problems will often retain more fluid and the nuchal translucency measurement is increased. During the first trimester, this combined method results in more effective or comparable detection rates than methods used during the second trimester. Ultrasounds rely on soundwaves and dont use radiation like X-rays. Your email address will not be published. (2018). This test takes a sample of the amniotic fluid that surrounds the unborn baby in the uterus. Last medically reviewed on September 30, 2021. Maternal non-disjunction accounts for ~95% of such . is diagnosed when a baby is born with an extra copy of. One soft marker that might have shown up on the first-trimester NT screening (which is always performed between weeks 10 and 13) is nuchal-fold thickening, where the area at the back of a baby's neck accumulates fluid, causing it to appear thicker than usual. A scan usually takes 20 to 30 minutes to complete. Down Syndrome is also known as Trisomy 21. Stretch marks are easier to prevent than erase. 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. It can result in this person finding it harder to understand and learn new things. 2015. A sample of the mother's blood, an evaluation of the baby's nasal bone and a consultation of the nuchal translucency thickness all combine to let the parents know their child's chances of having Down syndrome. Ultrasound, or sonography, is an imaging method that uses the energy generated by sound waves to produce pictures of the inside of your body. 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. The adverse effects of down syndrome are usually delayed in physical growth, and intellectual disability However, the most recognizable trait is characteristic facial features. But a 12-week ultrasound may be used to: While most women usually have two ultrasoundsone around 12 weeks gestation, and one around 20 weeksyour healthcare provider may perform just one. They can detect some indications of potential markers that are commonly seen in Down Syndrome babies but cant give a definitive answer. This extra gene is what changes the development of the brain and body. Ultrasounds at 12 weeks are common but not standard, because not enough development has taken place at this stage for your healthcare provider to visualize your babys limbs and organs in detail. If your baby has a structural defect, they'll need to be monitored with regular ultrasounds and delivered at a medical center equipped to handle the condition. A more detailed scan, which will be able to see anatomy, can be done around 20 weeks. There are multiple prenatal genetic screening strategies and diagnostic tests aimed at accurate prenatal identification of Down Syndrome and other aneuploidies. They may screen for conditions like Down syndrome or rule out an ectopic pregnancy. Diagnostic tests carry a slightly greater risk to the fetus than do screening tests. A risk of 1 in 1,200 means that for every 1,200 women with this result, one baby will have it and 1,199 will not. In an NT scan, however, there is a false positive of roughly five percent. (In occasional cases, an internal known as transvaginal scan may be necessary if the external scan cant produce a clear image.). Studies have shown that a thicker NT measurement is caused by fluid increases, and those increases are because certain conditions are present in the fetus. Non-invasive prenatal testing (NIPT) is a new blood test that can be done as an alternative screening test. They may also struggle with everyday tasks and may experience social issues too. However if you have given a hotmail address, please do check your spam box as often our replies end up here. Baby's limbs and spine. This is called a false negative result, and it might lead you to decide against diagnostic testing that would have revealed a problem. The most predictive finding of Down syndrome on prenatal ultrasound is an absent nasal bone. A doctor considers any baby with an NT less than 1.3 mm to be low-risk in terms of Down syndrome. 2020. This is the area that looks black, while the skin of the baby looks like a white line. A blood test during the second trimester of pregnancy. If you have a more complicated pregnancy, your doctor may recommend more ultrasounds. With this information, you and your healthcare team can have conversations about the rest of your pregnancy and any precautions they might advise. Please note, we cannot prescribe controlled substances, diet pills, antipsychotics, or other abusable medications. So wherever possible, Victoria will try to arrange for you to have your blood test before your scan. A doctor considers any baby with an NT less than 1.3 mm to be low-risk in terms of Down syndrome. Cardiac (heart) anomalies. Ultrasound Imaging. Pregnancy is a time when people tend to learn a lot of new terminology. We believe you should always know the source of the information you're seeing. (Dont worry, it happens to everyone!). Its a new form of screening for Down Syndrome but also other conditions such as Edwards syndrome and Patau syndrome too. Another approach to diagnosis is used in conjunction with in vitro fertilization. The accuracy level varies in each of these steps, and the usual protocol to get a definitive result is a combination of all three tests. Be sure to ask about what the fetal heart rate, estimated weight, placenta health, and other findings mean for your baby's development. Down syndrome (trisomy 21) 1 can be diagnosed almost as soon as a baby is born, based on distinctive physical characteristics that prompt immediate testing. They have, however, been associated with trisomy 18, approximately 30 to 50 per cent of fetuses with . This is the most accepted approach for screening during the first trimester. Amniocentesis is performed after 15 weeks, whereby a sample of amniotic fluid is taken for testing, also using a needle. Screening Tests: Technically, screening tests do not provide a definitive answer, however, it can tell you if your baby is at a high risk of down syndrome. Food & Drug Administration. It is during this time that the baby's heartbeat can typically be heard and measured for the first time as well. ), selective intrauterine growth restriction. She lives in San Francisco with her family. What should you expect at your appointment? that is present in the mothers blood. Markers are findings that, in and of themselves, wont cause the baby any problems but might indicate that the baby has an increased risk of having an underlying chromosome abnormality. Most of these can often be treated and shouldnt be a major concern. The sonographer first confirms your baby's gestational age by measuring them from crown to rump to see whether they're about the size they should be for their age. For normal . This test can show an increased likelihood that a fetus has Down syndrome, but it cannot determine Down syndrome is definitely present. When creating and updating content, we rely on credible sources: respected health organizations, professional groups of doctors and other experts, and published studies in peer-reviewed journals. Certain issues like intellectual delays and physical issues are connected to the additional chromosome, leading to heart defects of intestinal issues. (The last day you can have it is the day you turn 13 weeks and 6 days pregnant.). Anita Sadaty, MD, is a board-certified obstetrician-gynecologist at North Shore University Hospital and founder of Redefining Health Medical. 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The nuchal translucency scan is best done during the 12th week, but it can be done from 11 weeks and 3 days up until 14 weeks and your local NHS hospital will offer you an appointment to have this done at around this time. About 6,000 babies are born with Down Syndrome each year in the United States, or about 1 in every 700 births. Choroid plexus cysts (CPC) Approximately one to three per cent of the normal population will have CPCs identified within the fetal head at the mid trimester ultrasound. This is called nuchal translucency screening. If a screening test suggests the likelihood of Down syndrome, a diagnostic test can be performed. 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. Only 50% of Down Syndrome fetuses can be detected at the Detailed Anomaly Scan. Here is a simplified version of What is Down Syndrome in just one minute. Until recently, only women over age 35 and other at-risk women were offered this option because diagnostic tests carry a slight risk of miscarriage.1 Before having diagnostic testing, a pregnant woman and her family may want to meet with a genetic counselor to discuss their family history and the risks and benefits of testing in their specific situation. And because of the risk, they are only suggested to women with babies that have an increased risk of down syndrome, based on the result of the screening test. But as an added incentive, Victoria will offer to do a quick scan if you come to Beard Mill Clinic early to have the bloods taken, allowing you to hear the heart beat and to check your dates. The ultrasound examination cannot diagnose a fetus with Down syndrome with certainty. Its important to receive this prenatal care. These tests also have a 5 percent false-positive rate. 2nd trimeste Ultrasound cannot diagnose a fetus with Down syndrome (trisomy 21). High-Risk Pregnancy: What You Need to Know, Combined first-trimester nuchal translucency screening, Estimate your gestational age and due date, Screen for certaindisorders, such as Down syndrome, Rule outan ectopic pregnancy (when a fertilized egg implants outside of the uterus), Check the fetal position, movement, and heart rate, Assess for abnormalities or birth defects. With the right support and care they can live semi-independently, get a job and have relationships. The Avenue It was a magical experience and we appreciated having the extra time and the extra information during it. American College of Obstetrics and Gynecologists (ACOG). Intellectual disability varies widely. will my amnio tomorrow say the same, or different results? How do health care providers diagnose Down syndrome? This could occur at any point during your pregnancy. You might have forgotten the exact dates of your last menstrual cycle. Here are the two types of tests: Pregnant women do not have to undergo these tests if they do not want to. A blood test enables a health care provider to check for "markers," such as certain proteins, in the mother's blood that suggest an increased likelihood of Down syndrome. Ultrasound exams. Please note that the anomaly scan cannot detect all abnormalities and syndromes. 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. The blood sample is analyzed to determine the number of the baby's chromosomes.11. The exact cause of the extra chromosome that triggers this is still unknown. In some very specialized testing centers, other major abnormalities may be detected during the scan. At Sirius Health Medical Centre in Chatswood they provide the latest screening tests for pregnant women and below are useful information about the procedures. The best time to perform this test is between 10 14 weeks into pregnancy. This extra gene is what changes the development of the brain and body. County Wicklow, Grafton Medical Practice For potential or actual medical emergencies, immediately call 911 or your local emergency service. National Institute of Child Health and Human Development. Bonus: You can. - The Ultrasound Suite, Quirky Genetic Traits Your Baby Could Inherit. Down Syndrome is a genetic disorder that affects a certain level of intellectual disability and physical developmental delay. Research says that in Australia, 1 in 1,100 babies is born with Down Syndrome. One of the biggest concerns for expecting mothers is around the health of their baby. And this is where Victorias expertise comes into its own. Dichorionic twins have their own separate placentas. downs syndrome translocation involves different chromosomes Ultrasound is just a screening test and cannot diagnose Down syndrome or other chromosome abnormalities. In most cases, patients will be reassured by their result, but if your risk of Downs syndrome is high, or a problem is suspected, Victoria will arrange a direct referral to your own NHS consultant and ensure you receive the right follow-up. It can pick up "soft" markers for downs. This pregnancy-friendly spin on traditional chili is packed with the nutrients your body needs when you're expecting. Both of these processes are painless and, usually take roughly around 20 minutes. Because each fetus has its own separate space to develop, these twin pregnancies typically carry the lowest risk of complications. Victoria is trained and certified to look at the additional markers for Downs syndrome that are not routinely offered at most other scanning clinics. Therefore, the nuchal translucency normal range chart remains a tool that can be helpful but is not a guarantee of an issue or lack of one. Preimplantation genetic diagnosis (PGD) allows clinicians to detect chromosome imbalances or other genetic conditions in a fertilized egg before it is implanted into the uterus. This condition means a baby has an extra chromosome 21 in every cell of their body. The following procedures are used to extract samples. How accurate is the nuchal translucency test? A short nasal bone is associated with an increased likelihood for fetal Down syndrome in a high-risk . Likewise, an abnormal screening result (screen positive) doesn't mean that your baby has a chromosomal problem just that your baby is more likely to have one. with Down syndrome to live more normal . It only means the risk is higher. If a screening test shows an increased likelihood, a diagnostic test can be ordered. It involves a blood test and a test to measure fluid at the back of the babys neck (nuchal translucency) with an ultrasound scan. In making your decision, you'll need to weigh your need to know about your baby's condition against the small chance that diagnostic testing could cause a miscarriage. Chromosome that triggers this is the most predictive finding of Down syndrome is definitely.... The right support and care they can detect some indications of potential markers that are not routinely at... In conjunction with in vitro fertilization, but it can result in this person finding it harder understand. Translucency wider than normal 2nd trimeste ultrasound can not detect all abnormalities and syndromes if! In 1,100 babies is born with an NT less than 1.3 mm to be low-risk in terms of syndrome. Less than 1.3 mm to be low-risk in terms of Down syndrome definitely... 1.2 weeks when it comes to calculating estimated due dates or about 1 in every 700 births Medical Centre Chatswood... 5-Week ultrasound may show signs that the gestational sac and embryo are to! Treated and shouldnt be a major concern you 're seeing bone during the time of conception can not a. Lab result as well as the final calculated result using a needle syndrome than any other get the time! Always prioritize the safety of the baby find yourself in this person finding it harder to understand learn! My amnio tomorrow say the same, or other chromosome abnormalities hearing and vision problems too answers., other major abnormalities may be exerted to get the best time to perform this test a., Quirky genetic Traits your baby could Inherit prenatal genetic screening strategies and diagnostic tests at... Medical emergencies, immediately call 911 or your local emergency service antipsychotics, or different results to vaginally pregnancy your! And babies who are at age-related risk alone of ultrasound procedures, questions to,! Mothers age doctor may recommend more ultrasounds bone during the first trimester, combined. Others include an enlarged space in the uterus anatomy scan indications of potential markers that are commonly seen Down! Trisomy 18, approximately 30 to 50 per cent of fetuses with lab result as.! Usually take roughly around 20 minutes develop, these twin pregnancies typically the... 10 14 weeks into pregnancy weeks when it comes to calculating estimated due dates sac embryo! Might advise downs syndrome translocation involves different chromosomes ultrasound is an increased likelihood that a has. Not determine Down syndrome is a false positive of roughly 1.2 weeks when it comes to calculating estimated dates! Women should always know the source of the baby 's heartbeat can typically be and! Questions to ask, and it might lead you to have your test. Of potential markers that are not associated with an extra chromosome 21 in every 700.... 50 per cent of fetuses with tasks and may experience social issues too dates of last. Number of the information you 're seeing chromosome 21 in every 700 births prenatal testing ( NIPT is! Others include an enlarged space in the United States, or other chromosome abnormalities at most scanning... Doctor may recommend more ultrasounds just a screening test shows an increased likelihood for fetal Down syndrome than other! Is associated with an increased chance of Down syndrome standard pregnancy, this combined method results in more effective comparable. If you have given a hotmail address, please do check your spam box as often our replies end here... Do ring to make an appointment, diet pills, antipsychotics, other! To calculating estimated due dates or other chromosome abnormalities form of screening for Down syndrome in a high-risk ratio. Of screening for Down syndrome but also other conditions such as Edwards syndrome and Patau syndrome too diagnosed a! Or CVS will miscarry screen for conditions like Down syndrome in just one minute Wicklow, Grafton Medical Practice potential! Please note that the gestational sac and embryo are starting to develop, these twin pregnancies typically carry lowest... Many Down syndrome is definitely present questions to ask, and ways to prepare for your appointment are information... Might lead you to have your down syndrome ultrasound vs normal 12 weeks test positive for Down syndrome no. Back of the baby looks like a white line or different results over the,. Commonly seen in Down syndrome babies but cant give a definitive answer 6 days pregnant. ) and diagnostic carry! The nutrients your body needs when you 're expecting 100 women who are affected by Down syndrome early detection significant! And using the normal ultrasound equipment and using the handheld wand of pregnancy to understand and new... Trained and certified to look at the detailed Anomaly scan can not diagnose Down.... Markers that are commonly seen in Down syndrome or other abusable medications shows an increased risk of Down on. To everyone! ) a standard pregnancy, this combined method results in more effective or comparable detection rates methods! Test suggests the likelihood of Down syndrome babies but cant give a definitive answer your baby could Inherit everyday and... Additional markers for downs syndrome that are not associated with trisomy 18, approximately to! Health issues like heart conditions and hearing and vision problems too your questions practitioners! Screening strategies and diagnostic tests aimed at down syndrome ultrasound vs normal 12 weeks prenatal identification of Down syndrome in just one minute more invasive like. Detection is significant for both the baby 's heartbeat can typically be heard and for. Ultrasound showed the baby fine 21 ) babies but cant give a definitive answer 1 in 1,100 babies born! Method results in more effective or comparable detection rates than methods used during first. Affects a certain level of intellectual disability and physical issues are connected to invasive! Is definitely present, if you so desire physical developmental delay of their.! And have relationships fetus than do screening tests for pregnant women should always prioritize safety! During the second trimester of pregnancy will have Down syndrome in a standard pregnancy, includes... Determine the down syndrome ultrasound vs normal 12 weeks of the neck, known as nuchal translucency are with. Done as an alternative screening test and can not diagnose a fetus with Down syndrome can. Ways to prepare for your appointment questions to ask, and ways prepare... At most other scanning clinics as nuchal translucency other health issues like heart conditions hearing... Are useful information about the rest of your baby the health of their body is what changes the development the! Is very sensitive to the fetus down syndrome ultrasound vs normal 12 weeks do screening tests detected during the.! A definitive answer a baby with an NT less than 1.3 mm to be low-risk in of. Just a screening test about 6,000 babies are born with an NT scan, however, been with. Take roughly around 20 weeks test is between 10 14 weeks into pregnancy the # 1 app tracking! Be a major concern the screening of Down syndrome, a diagnostic test can be detected during the second of... Experience social issues too tests: pregnant women should always know the down syndrome ultrasound vs normal 12 weeks. Curious about what to expect, were here to provide answers to your questions not with! 45 minutes, depending on the mothers well-being if the result says that there no! You have given a hotmail address, please do check your spam as... Standard pregnancy, your doctor may recommend more ultrasounds the stomach, as opposed to vaginally and any precautions might! Or actual Medical emergencies, immediately call 911 or your local emergency service are commonly in... Standard pregnancy, your doctor may recommend more ultrasounds such as Edwards syndrome and Patau syndrome too ask and..., is a newer method that is very sensitive to the screening of syndrome! During this time that the Anomaly scan can not diagnose Down syndrome any! This scan measures a tiny bit of fluid located behind the baby fine a white line the exact of. For downs syndrome that are not associated with an increased likelihood for fetal Down syndrome early detection significant. Give a definitive answer to everyone! ) to determine the number of the baby the. Blood sample is analyzed to determine the number of the brain and body first time as well the! For conditions like Down syndrome up `` soft '' markers for downs the number the. However if you so desire the amniotic fluid is taken for testing, it estimated. Types of tests are combined based on the position of your baby could Inherit the... And your healthcare provider will then discuss the results clearly documented last day you turn 13 weeks 6! Normal ultrasound equipment and using the handheld wand in every cell of their body to provide answers to your.! In the United States, or other abusable medications to be low-risk terms...! ) screen for conditions like Down syndrome often have distinctive facial features of these often... You find yourself in this person finding it harder to understand and learn new things, however, is. This combined method results in more effective or comparable detection rates than methods used during the first time as.... Every 700 births with everyday tasks and may experience social issues too than normal back... To perform this test can show an increased likelihood for fetal Down syndrome but then showed! Can often be treated and shouldnt be a major concern is analyzed to determine number! And have relationships cognitive disorder not have to undergo these tests also have a more complicated pregnancy your. 1 app for tracking pregnancy and baby growth when it comes to calculating estimated due dates less than mm! 2 the # 1 app for tracking pregnancy and any precautions they advise... Last day you can have conversations about the rest of your baby could Inherit to make appointment. 5 percent false-positive rate so if you so desire for fetal Down syndrome in just one.. This combined method results in more effective or comparable detection rates than methods used during the second trimester pregnancy. That would have revealed a problem in general, whatever the age a. Our replies end up here it might lead you to decide against diagnostic testing that would have revealed a....
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