Down Syndrome: Most Popular Articles
These articles are the most popular over the last month.
Diagnosis of Down Syndrome
Down syndrome can be diagnosed at birth or prenatal. It is usually suspected due to some unusual physical features in an infant and confirmed by a blood test that analyzes the infants chromosomes called a karyotype. Down syndrome, or trisomy 21, can also be diagnosed prenatally through screening tests such as maternal serum screening tests or by ultraound or sonogram. Diagnostic testing such as amniocentesis and CVS is used to confirm the diagnosis.
Down syndrome can be diagnosed at birth or prenatal. It is usually suspected due to some unusual physical features in an infant and confirmed by a blood test that analyzes the infants chromosomes called a karyotype. Down syndrome, or trisomy 21, can also be diagnosed prenatally through screening tests such as maternal serum screening tests or by ultraound or sonogram. Diagnostic testing such as amniocentesis and CVS is used to confirm the diagnosis.
Maternal Age-Related Risks
The risk to have a child with a trisomy or extra chromosome goes up as a woman gets older. Down syndrome is the most common trisomy but there are other rare trisomies (trisomy 18 and trisomy 13). Use the chart below to determine your age related risk for Down syndrome and all trisomies.
The risk to have a child with a trisomy or extra chromosome goes up as a woman gets older. Down syndrome is the most common trisomy but there are other rare trisomies (trisomy 18 and trisomy 13). Use the chart below to determine your age related risk for Down syndrome and all trisomies.
Ultrasounds and Sonograms
Ultrasound is a common test done during pregnancy. It lets a doctor look at a fetus and measure how far along in your pregnancy you are. however, sometimes an ultrasound can show some markers that indicate that the baby that you are carrying may have a higher than normal chance to have Down syndrome. Read here to learn more about the link between ultrasound and Down Syndrome.
Ultrasound is a common test done during pregnancy. It lets a doctor look at a fetus and measure how far along in your pregnancy you are. however, sometimes an ultrasound can show some markers that indicate that the baby that you are carrying may have a higher than normal chance to have Down syndrome. Read here to learn more about the link between ultrasound and Down Syndrome.
Features of Down Syndrome
An overview of the features of Down syndrome and some of the medical problems that occur more frequently in people with Down syndrome.
An overview of the features of Down syndrome and some of the medical problems that occur more frequently in people with Down syndrome.
Mosaic Down Syndrome
Mosaic Down syndrome accounts for 2 to 4% of all cases of Down syndrome. But what exactly is mosaic Down syndrome, and what does it mean for a child who receives this diagnosis?
Mosaic Down syndrome accounts for 2 to 4% of all cases of Down syndrome. But what exactly is mosaic Down syndrome, and what does it mean for a child who receives this diagnosis?
Choroid Plexus Cysts
If you have just been told that your baby has a choroid plexus cysts on ultrasound, you are probably frightened and confused, but there is no need to be. Choroid plexus cysts are a common ultrasound finding and always go away over time. The bigger issue with choroid plexus cysts is that they can be a marker that your baby has a small chance to have a serious chromosome problem such as Down syndrome. Read here to learn more about this common ultrasound finding.
If you have just been told that your baby has a choroid plexus cysts on ultrasound, you are probably frightened and confused, but there is no need to be. Choroid plexus cysts are a common ultrasound finding and always go away over time. The bigger issue with choroid plexus cysts is that they can be a marker that your baby has a small chance to have a serious chromosome problem such as Down syndrome. Read here to learn more about this common ultrasound finding.
Treatment of Down Syndrome
A brief overview of the treatments for Down syndrome.
A brief overview of the treatments for Down syndrome.
Diagnosing Down Syndrome
Down syndrome is can be diagnosed shortly after birth by a blood test called a karyotype. It can also be diagnosed in pregnancy through amniocentesis or CVS both of which are used to generate a fetal karyotype. Increasingly pregnancy women are being offered screening tests - ultrasound or maternal serum screening - to estimate their risk to have a baby with Down syndrome.
Down syndrome is can be diagnosed shortly after birth by a blood test called a karyotype. It can also be diagnosed in pregnancy through amniocentesis or CVS both of which are used to generate a fetal karyotype. Increasingly pregnancy women are being offered screening tests - ultrasound or maternal serum screening - to estimate their risk to have a baby with Down syndrome.
Karyotype Testing
A step by step guide to how a karyotype test is done.
A step by step guide to how a karyotype test is done.
Down Syndrome Characteristics
Down syndrome is caused by an extra number 21 chromosome. But what does that really mean? Learn more about the characteristics that define Down syndrome here.
Down syndrome is caused by an extra number 21 chromosome. But what does that really mean? Learn more about the characteristics that define Down syndrome here.
Cause of Down Syndrome
Down syndrome is caused by having an extra chromosome number 21. But what exactly does this mean? Read this section to learn more about what is known about the cause of Down syndrome, the types of Down syndrome and the relationship between a mother's age and Down syndrome.
Down syndrome is caused by having an extra chromosome number 21. But what exactly does this mean? Read this section to learn more about what is known about the cause of Down syndrome, the types of Down syndrome and the relationship between a mother's age and Down syndrome.
First Trimester Screening
There are several prenatal serum (blood) screening tests now available to screen a pregnancy for Down syndrome. This article discusses first trimester serum screening and what it can and can't tell you.
There are several prenatal serum (blood) screening tests now available to screen a pregnancy for Down syndrome. This article discusses first trimester serum screening and what it can and can't tell you.
Quick Facts
A few pertinent statistics about Down syndrome.
A few pertinent statistics about Down syndrome.
What Your Pediatrician Sees
How is the diagnosis of Down syndrome made? This step by step guide discusses the signs, symptoms and testing that lead to a diagnosis of Down syndrome.
How is the diagnosis of Down syndrome made? This step by step guide discusses the signs, symptoms and testing that lead to a diagnosis of Down syndrome.
Down Syndrome Symptoms
An overview of the physical characteristics, medical issues, behavioral components and psychological issues seen in individuals with Down syndrome.
An overview of the physical characteristics, medical issues, behavioral components and psychological issues seen in individuals with Down syndrome.
Karyotype
The definition of karyotype.
The definition of karyotype.
Amniocentesis
An amniocentesis is an optional diagnostic test done during the second trimester of pregnancy. Read more about amniocentesis, what it tells you, and how it feels here.
An amniocentesis is an optional diagnostic test done during the second trimester of pregnancy. Read more about amniocentesis, what it tells you, and how it feels here.
downsynessential
If you are just starting to learn about Down syndrome, read this article to get a brief overview of the history, cause and characteristics of people with Down syndrome (also called trisomy 21).
If you are just starting to learn about Down syndrome, read this article to get a brief overview of the history, cause and characteristics of people with Down syndrome (also called trisomy 21).
Know Your Down Syndrome Facts
Although it is a common disorder, there are a lot of myths and misconceptions about Down syndrome. Check your facts (and misconceptions) here.
Although it is a common disorder, there are a lot of myths and misconceptions about Down syndrome. Check your facts (and misconceptions) here.
Maternal Age Risks
One of the steps in deciding about prenatal diagnosis testing in your pregnancy, is understanding your risk. This article discusses how maternal age can influence your risk to have a child with Down syndrome.
One of the steps in deciding about prenatal diagnosis testing in your pregnancy, is understanding your risk. This article discusses how maternal age can influence your risk to have a child with Down syndrome.
FISH Analysis Test
Fluorescent In Situ Hybridization or FISH analysis, is a cytogenetic technique that is often used to diagnose Down syndrome prenatally. Continue reading to learn more about this test and the pros and cons of this technique.
Fluorescent In Situ Hybridization or FISH analysis, is a cytogenetic technique that is often used to diagnose Down syndrome prenatally. Continue reading to learn more about this test and the pros and cons of this technique.
Chromosomes and Miscarriage
While Down syndrome is the most common human trisomy, other trisomies also can occur. Read here to get some information about the other trisomies seen in humans.
While Down syndrome is the most common human trisomy, other trisomies also can occur. Read here to get some information about the other trisomies seen in humans.
Duodenal Atresia
Duodenal atresia is one of several intestinal birth defects that occur more frequently in infants with Down syndrome. Read more to learn the symptoms of this highly-treatable disorder.
Duodenal atresia is one of several intestinal birth defects that occur more frequently in infants with Down syndrome. Read more to learn the symptoms of this highly-treatable disorder.
Screening Tests
There has been a large increase in the number and type of screening tests for Down syndrome available to pregnant women. Read more to learn more about the concept of screening and what it can and cannot tell you.
There has been a large increase in the number and type of screening tests for Down syndrome available to pregnant women. Read more to learn more about the concept of screening and what it can and cannot tell you.
Atlantoaxial Instability
Atlantoaxial instability or AAI is a common orthopedic problem in Down syndrome. To learn more about this problem, including its symptoms and treatments, read here.
Atlantoaxial instability or AAI is a common orthopedic problem in Down syndrome. To learn more about this problem, including its symptoms and treatments, read here.
Factors to Consider
While screening and diagnostic tests for Down syndrome have become almost routine during pregnancy, it is actually up to each couple to decide for themselves if they want any prenatal testing during a pregnancy. This article discusses some of the factors that you should consider before making a decision about prenatal testing during your pregnancy.
While screening and diagnostic tests for Down syndrome have become almost routine during pregnancy, it is actually up to each couple to decide for themselves if they want any prenatal testing during a pregnancy. This article discusses some of the factors that you should consider before making a decision about prenatal testing during your pregnancy.
Chromosome Analysis
If you have ever wondered about how Down syndrome is diagnosed, read more about karyotyping to learn more about how the actual chromosome diagnosis is made.
If you have ever wondered about how Down syndrome is diagnosed, read more about karyotyping to learn more about how the actual chromosome diagnosis is made.
Reciprocal Translocation
Definition of a reciprocal chromosome translocation and how they can cause Down syndrome.
Definition of a reciprocal chromosome translocation and how they can cause Down syndrome.
Translocation Down Syndrome
: Translocation Down syndrome occurs when two chromosomes, one of which must be a #21, join together
: Translocation Down syndrome occurs when two chromosomes, one of which must be a #21, join together
Translocation
Definition of a translocation
Definition of a translocation
Chorionic Villi Sampling - CVS
: Chorionic villi sampling is an optional test done during pregnancy to detect chromosome abnormalities
: Chorionic villi sampling is an optional test done during pregnancy to detect chromosome abnormalities
Prenatal Testing Options
If you are pregnant and considering prenatal testing, be sure to read more about what factors you should consider and what information you should know before you make a decision.
dealingnews1_ro
Those first few days after learning about the diagnosis of Down Syndrome can be tough. These articles give some hints and tips on how to take care of yourself and those around you.
Those first few days after learning about the diagnosis of Down Syndrome can be tough. These articles give some hints and tips on how to take care of yourself and those around you.
Robertsonian Translocations
Definition of a Robertsonian translocation and how they can cause Down syndrome.
Definition of a Robertsonian translocation and how they can cause Down syndrome.
Special Needs Toys
Are you confused about what toys to buy for your child with Down syndrome? Use these helpful tips to guide your search for the perfect toy.
Are you confused about what toys to buy for your child with Down syndrome? Use these helpful tips to guide your search for the perfect toy.
Chorionic Villi Sampling
A chorionic villi sampling test is an optional diagnostic test done during the first trimester of pregnancy. Read more about chorionic villi sampling, what it tells you, and how it feels here.
A chorionic villi sampling test is an optional diagnostic test done during the first trimester of pregnancy. Read more about chorionic villi sampling, what it tells you, and how it feels here.
Hypothyroidism
Hypothyroidism, an underactive thyroid gland, is surprisingly common in people with Down syndrome. read here to learn more about this condition including it's symptoms and treatment here.
Hypothyroidism, an underactive thyroid gland, is surprisingly common in people with Down syndrome. read here to learn more about this condition including it's symptoms and treatment here.
Trisomy 13
Trisomy 13 is a relatively rare chromosome abnormality that occurs in about 1 in 5,000 liveborn babies and is caused by the presence of an extra number 13 chromosome.
Trisomy 13 is a relatively rare chromosome abnormality that occurs in about 1 in 5,000 liveborn babies and is caused by the presence of an extra number 13 chromosome.
Prenatal Tests
Prenatal tests are tests done during pregnancy to detect or to screen for genetic disorders or other birth defects such as link url=http://downsyndrome.about.com/od/downsyndromebasics/a/downsynessen.htm]Down syndrome.
Prenatal tests are tests done during pregnancy to detect or to screen for genetic disorders or other birth defects such as link url=http://downsyndrome.about.com/od/downsyndromebasics/a/downsynessen.htm]Down syndrome.
Am I to blame?
A simple explanation of what causes Down syndrome.
A simple explanation of what causes Down syndrome.
The First Few Days
The first few days after learning your child's diagnosis can be frightening and emotionally overwhelming. There are some things that you can do to help you through this time
The first few days after learning your child's diagnosis can be frightening and emotionally overwhelming. There are some things that you can do to help you through this time
Anencephaly
Anencephaly is a relatively common lethal birth defect cause by a failure of neural tube development and resulting in resulting in the absence of a major portion of the brain, skull, and scalp.
Anencephaly is a relatively common lethal birth defect cause by a failure of neural tube development and resulting in resulting in the absence of a major portion of the brain, skull, and scalp.
Trisomy
Definition of trisomy
Definition of trisomy
Support and Resources
A list of resources for parents of children with Down syndrome including national support groups, local support groups, books and helpful websites.
A list of resources for parents of children with Down syndrome including national support groups, local support groups, books and helpful websites.
Genetic Counseling
While most people equate genetic counseling with prenatal testing, there are many other reasons that people should consider seeing a genetic counselor. Below is a list of some of these reasons.
While most people equate genetic counseling with prenatal testing, there are many other reasons that people should consider seeing a genetic counselor. Below is a list of some of these reasons.
What to Expect
While most babies with Down syndrome are very healthy, there are some specific issues and concerns that your pediatrician should address. Read on to learn more about the conditions and testing that your pediatrician may consider.
While most babies with Down syndrome are very healthy, there are some specific issues and concerns that your pediatrician should address. Read on to learn more about the conditions and testing that your pediatrician may consider.
Wht Does It Mean for My Child?
: Atlantotaxial instability is a condition affecting the neck bones of about 15% of people with Down
: Atlantotaxial instability is a condition affecting the neck bones of about 15% of people with Down
Neurologist
neurologist definition
neurologist definition
What to Say to New Parents
Specific phrases and sentiments that may be helpful in talking to parents of a new infant with Down syndrome.
Specific phrases and sentiments that may be helpful in talking to parents of a new infant with Down syndrome.
A Soft Marker
Choroid plexus cysts are a common finding on second trimester prenatal ultrasound. Most often, fetuses with choroid plexus cysts are perfectly healthy but there is a small association between choroid plexus cysts and chromosome problems such as Down syndrome.
Choroid plexus cysts are a common finding on second trimester prenatal ultrasound. Most often, fetuses with choroid plexus cysts are perfectly healthy but there is a small association between choroid plexus cysts and chromosome problems such as Down syndrome.
Mosaic Down Syndrome Defined
Mosaic Down Syndrome
Mosaic Down Syndrome
Hypotonia
Definition of hypotonia
Definition of hypotonia
What Not to Say
While there are specific phrases and sentiments that may be helpful in talking to parents of a new infant with Down syndrome, there are some things that you should try to avoid saying.
While there are specific phrases and sentiments that may be helpful in talking to parents of a new infant with Down syndrome, there are some things that you should try to avoid saying.
Tips for Families and Friends
Has someone you love recently had a new baby with Down syndrome? Are you trying to figure out the correct things to say and do? Here are some tips that you should read before you call.
Has someone you love recently had a new baby with Down syndrome? Are you trying to figure out the correct things to say and do? Here are some tips that you should read before you call.
Trisomy 18
Trisomy 18 is a relatively rare chromosome abnormality that occurs in about 1 in 6000 babies caused by the presence of an extra number 18 chromosome.
Trisomy 18 is a relatively rare chromosome abnormality that occurs in about 1 in 6000 babies caused by the presence of an extra number 18 chromosome.
Down Syndrome Development
Individuals with Down syndrome develop skills at a slower pace that individuals without Down syndrome. However, there are some norms of what to expect in terms of development from a child with Down Syndrome.
Individuals with Down syndrome develop skills at a slower pace that individuals without Down syndrome. However, there are some norms of what to expect in terms of development from a child with Down Syndrome.
Alpha-fetoprotein or AFP
Alpha fetoprotein or AFP is a protein produced during pregnancy that is used to screen for Down syndrome and neural tube defects such as anencephaly or spina bifida.
Alpha fetoprotein or AFP is a protein produced during pregnancy that is used to screen for Down syndrome and neural tube defects such as anencephaly or spina bifida.
What is the Connection?
Adults with Down syndrome have an increased risk of developing Alzheimers disease. Read more to learn why and what can be done about it.
Adults with Down syndrome have an increased risk of developing Alzheimers disease. Read more to learn why and what can be done about it.
Family and Friends
It can be tricky dealing with family and friends after you bring your baby home. Read here for some practical tips that just might help the situation.
It can be tricky dealing with family and friends after you bring your baby home. Read here for some practical tips that just might help the situation.
Spina Bifida
Spina bifida is a common birth defect affecting the spinal cord that occurs in about 1 in 1000 pregnancies.
Spina bifida is a common birth defect affecting the spinal cord that occurs in about 1 in 1000 pregnancies.
Screening Tests in Pregnancy
Pregnant women are offered a number of different screening tests during pregnancy, often without adequate explanation. This FAQ will briefly explain screening test results in relationship to the diagnosis of Down syndrome.
Pregnant women are offered a number of different screening tests during pregnancy, often without adequate explanation. This FAQ will briefly explain screening test results in relationship to the diagnosis of Down syndrome.
Getting Information and Suppor
Not having up to date information can cause anxiety and frustration. Use the tips here to find current information and resources to help you on your journey.
Not having up to date information can cause anxiety and frustration. Use the tips here to find current information and resources to help you on your journey.
Chromosome
chromosomes chromosome karyotype
chromosomes chromosome karyotype
Neurosurgeon
Definition of a neurosurgeon
Definition of a neurosurgeon
Ultrasound and Down Syndrome
Prenatal ultrasound, also called a sonogram, is a technique that allows healthcare providers to see or visualize an unborn baby. There are many reasons to have a prenatal ultrasound which is also sometimes called a sonogram.
Prenatal ultrasound, also called a sonogram, is a technique that allows healthcare providers to see or visualize an unborn baby. There are many reasons to have a prenatal ultrasound which is also sometimes called a sonogram.
Down Syndrome and Swine Flu
People with Down syndrome are at increased risk to get swine flu and it's associated complications. Read here to understand why, and to learn what you can do to help.
People with Down syndrome are at increased risk to get swine flu and it's associated complications. Read here to understand why, and to learn what you can do to help.
Health Issues
People with Down syndrome have special medical needs. Review the links below to get information about the different health concerns that should be addressed at specific ages.
People with Down syndrome have special medical needs. Review the links below to get information about the different health concerns that should be addressed at specific ages.
Down Syndrome Overviews
An overview of some facts and myths about Down syndrome.
An overview of some facts and myths about Down syndrome.
Syndrome
The definition of a syndrome.
The definition of a syndrome.
Cytogenetics
Definition of cytogenetics
Definition of cytogenetics