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Diagnosing Down Syndrome

Down Syndrome is usually diagnosed shortly after birth or during a pregnancy. Either way, the diagnosis is almost always a shock. Learn what makes doctors suspect the diagnosis of Down syndrome and what testing is needed to confirm this diagnosis.

Making the 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.

Biggest Challenge in Down Syndrome
The diagnosis of Down syndrome often comes with many challenges - medical, emotional and social.

Karyotypes and Down Syndrome
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.

CVS testing - Prenatal Testing for Down Syndrome
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.

Ultrasound Findings 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.

Testing for Down Syndrome
Learning that your child has Down syndrome can be one of the most confusing times of your life. Learn what makes a doctor suspect that your child has Down syndrome and what tests can be done to confirm this diagnosis.

How Did You Receive the Diagnosis of Down Syndrome?
How did you receive the news that your child had Down syndrome? Share your story with others.

Prenatal Testing for Down Syndrome
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.

Down Syndrome and Pregnancy - Prenatal Testing for Down Syndrome

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.

Who Should See a Genetic Counselor?
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.

Fluorescent In Situ Hybridization or FISH Analysis and Diagnosing Down Syndrome
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.

Maternal Age Related Risks for Down Syndrome and Other 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.

Screening for Down Syndrome in Pregnancy
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.

Maternal Age, Chromosomes and 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.

Maternal Age Related Risks to have a Child with Down Syndrome or Othe…
The chance to have a child with Down syndrome (due to trisomy 21) increases as a woman gets older. To use this chart, look at the age you will be at the time of delivery and read across. The first number is your risk to have a child with Trisomy 21 and the second number is your risk to have a child with any trisomy.

Prenatal Testing for Down Syndrome - What You Need to Know to Make a Decision
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.

How is Down Syndrome Diagnosed?
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.

More About Diagnosing 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 or diagnostic testing.

How is a Karyotype Test Done?
A step by step guide to how a karyotype test is done.

Dealing with the News That Your Child Has Down Syndrome
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.

Dealing with 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.

Dealing with the News - The First Few Days
Those first few days after learning your baby has Down Syndrome can be tough. This article gives you some hints and tips on how to take care of yourself and those around you.

6 Things Every New Parent of A Child With Down Syndrome Should Be told
6 Things Every New Parent of A Child With Down Syndrome Should Be told

Dealing As a Couple with Your Child’s Diagnosis of Down Syndrome

5 Basic Things You Should Know About Raising a Child with Down Syndrome

New Pregnancy after Having a Child with Down Syndrome
These are common fears that may arise when families decide with a new pregnancy after having a child with Down syndrome.

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