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The Facts About Down Syndrome

Katlyn Joy |29, June 2010


Down syndrome is the most common chromosomal disorder, and is caused when the developing fetus has an extra copy of the 21st chromosome. Pregnant women often undergo screening for Down's syndrome typically a blood test done in the first trimester, usually between 11 and 13 weeks, along with a special ultrasound to test the neck thickness of the fetus, or a nuchal translucency. Another option is a blood test without the ultrasound in the second trimester, usually between the 15th and 20th week of pregnancy. These blood tests will not provide a conclusive diagnosis of Down syndrome, it will just indicate if the pregnancy is at higher-risk for the disorder.

When a screening indicates a higher than average risk, a pregnant woman may then opt to have diagnostic test performed. Also, some women may opt to skip the screening and just have the diagnostic test. These tests, amniocentesis and chorionic villi sampling or CVS, are invasive and carry a small risk of causing a miscarriage. However, they are highly accurate at diagnosing or ruling out Down syndrome. Some may choose not to have the tests, but for those who do, often the reason is to arrange for a special delivery at a facility equipped for special needs newborns and prepare emotionally and financially .

While in most cases the tests will be reassuring, for those who find out they are carrying a child with Down syndrome it can come as a shock. Learning more about the condition, and what to expect can be of tremendous help.

Approximately 3,357 babies are born each year in the US with Down syndrome, according to the Centers for Disease Control and Prevention. The prevalence of the syndrome go up with maternal age, ranging from 1 in 1000 at age 30, 1 in 400 at 35, 1 in 100 at 40 and 1 in 30 at age 45 according to the March of Dimes.

Those with Down syndrome have varying levels of impairment. While all have some degree of intellectual impairment, most are in the mild to moderate range. Certain medical problems are associated with Down syndrome. The most common is heart problems, which occurs in almost half of the cases. Often it can be treated with medication or sometimes surgery. Other common problems include intestinal defects which happen in 12 percent of Down syndrome births and are surgically corrected, and visual problems that may require glasses or possibly surgery. Eye problems occur in about 60 percent of Down syndrome cases. Hearing loss is also quite common, but it may be temporary due to fluid build-up or require more treatment due to a defect.

Children with Down syndrome often have certain physical characteristics in common such as being of short stature, having eyes that slant upward, a smaller nose and mouth, a short neck, a nose with a flatter bridge than average, and low muscle tone.

Down syndrome children will greatly benefit from early intervention services. These may include speech therapy, physical and occupational therapy and special preschool classes. Getting help early gives children an advantage educationally as well as socially and emotionally. Sometimes parents will work with a developmental therapist who coordinates all the services the child receives and works closely with the entire family in setting goals for the child and setting up regular assessments to see how the child is developing and growing.

While having a Down syndrome child may be scary and overwhelming at times, being prepared and getting connected to a support group of families dealing with Down syndrome can be empowering and comforting.

A good place for parents to start is with the National Down Syndrome Society,, 1-800-221-4602.

Katlyn Joy is a freelance writer, and just graduated with a Master's of Arts in Creative Writing. She is mom to seven children, and lives in Denver, Colorado.

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Wordpress Themes Jul 10, 2010 09:48:18 AM ET

Good fill someone in on and this mail helped me alot in my college assignement. Thank you seeking your information.

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