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04.04.2014


For centuries, people with Down syndrome have been alluded to in art, literature and science.
In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. In translocation, which accounts for about 4% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Once a woman has given birth to a baby with trisomy 21 (nondisjunction) or translocation, it is estimated that her chances of having another baby with trisomy 21 is 1 in 100 up until age 40.
There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities. Due to advances in medical technology, individuals with Down syndrome are living longer than ever before.


If not treated, trichomoniasis can increase a person’s chances of getting or spreading other STDs. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. In 1959, the French physician Jerome Lejeune identified Down syndrome as a chromosomal condition.
The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. The site provides answers to common questions, educates about Down Syndrome and shares the stories of other parents with similar situations. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome.
Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.
These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability.


The blood tests (or serum screening tests) measure quantities of various substances in the blood of the mother. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, CVS in the first trimester between 9 and 14 weeks.
Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy. Together with a woman's age, these are used to estimate her chance of having a child with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. These blood tests are often performed in conjunction with a detailed sonogram to check for "markers" (characteristics that some researchers feel may have a significant association with Down syndrome).
Karen Leham is double board-certified in Obstetrics and Gynecology and in Reproductive Endocronology and Infertility.



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