27.10.2015

Down syndrome pregnancy at age 40

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. Yes, this page is loaded with the Down Syndrome risk factors that may be used to estimate the chances of having a baby with Down Syndrome.
Truth is, that irrespective of what risk factor for Down Syndrome you work out, the bottom line is that you either will or wont give birth to a child with Down Syndrome.
Total risk of chromosomal damage in baby from all sources including Down Syndrome risk, is approximately double the probability of Down Syndrome – For example, 1 in 40 becomes 1 in 20.


Harry Fisch and others, over the period 1983 to 1997, investigated 3,429 cases of Down Syndrome in relation to father’s age. The researchers found that fathers over 40 years of age, when having kids to women aged over 35 years, had twice the Down syndrome risk factor, when compared with men 24 years of age and younger also having kids to women aged over 35 years.
For mothers over 40 years of age, the researchers discovered that an increase of 50% in Down syndrome risk factor was caused by the advanced age of the father.
So, the biggest cause of Down Syndrome pregnancy is the advanced age of either or both the mother and father. Yes, if this is the fifth or more baby, the risk of Down Syndrome (Trisomy 21) is slightly increased.  Also, Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) risk are also apparently increased slightly. Females, under the age of 35 years, who smoke have an increased risk of Down Syndrome in their babies. By the time she reaches 40, assuming she has been able to give birth before, the probability of getting pregnant and having a pregnancy run to full term is quite low, around one in a hundred, according to one specialist. While Apert syndrome occurs only once in 160,000 births, the researchers think their findings may apply to 20 or so other genetic conditions [does not appear to include Down Syndrome at this time] that appear to be related to fathers above age 33 years.
Also, age and Down Syndrome pregnancy risk is the simplistic way of looking at the cause of Down Syndrome. Of mother’s with Down Syndrome, about 50% of their offspring will have Down Syndrome or another genetic condition causing developmental disability aka mental retardation.
I think I have covered everything on Down Syndrome pregnancy risk factors, but if you have any questions, please contact me. 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. The only way to know for sure whether the baby has Down Syndrome while in utero, is to do the concrete tests for Down Syndrome.
If the women were under 35 years of age, the father’s age had no effect on whether it would be a Down Syndrome pregnancy.
Glaser, et al, 2002, found in their research on Apert syndrome, that men, between the ages of 33 and 35 begin to experience a dramatic increase in fertility problems; this is also the age when women begin to experience fertility problems more markedly.
Based on our current understanding, the real cause of Down Syndrome is starting to be understood. 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 real problem is people see famous stars and so on get pregnant with IVF and think they can do it just as easily, the thought that only 1 in 20 movie stars may be successful doesn’t even occur to them. 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.
Together with a woman's age, these are used to estimate her chance of having a child with Down syndrome.
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).



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