Good morning/afternoon aspiring doctors. Bob and Betty are willing to start a family after achieving much success in their careers. Betty has conceived naturally, however, she is in her 40’s and is concerned about the risks her child faces due to her age.
There are many risks associated with parental-age; including the increased likelihood of being pregnant with multiples, high blood pressure, hypertension and gestational diabetes. Consequently, these risks can cause the premature delivery of a baby with a low-birth weight (The American College of Obstetricians and Gynaecologists 2015; March of Dimes 2017; Evidence Based Birth 2017). Women aged 40 are also susceptible to have a 51% chance of a spontaneous miscarriage and are two and-a-half times as likely to have a stillborn baby (Birth Injury Justice.org 2017); compared to a 22 year old with 8.7% (Birth Injury Justice.org 2017; Evidence Based Birth 2017). The miscarriage rates are higher in older women as they occur within the half of the first trimester due to genetic problems including Down syndrome; as 1 in 53 at the age of 40 have a baby with a genetic disorder, compared to 1 in 1064 at 25 (Evidence Based Birth 2017).
The increased risk of Down syndrome in 40 year old women is believed to be caused by errors which can crop up in the eggs’ genetic material as they age (Down-Syndrome Screening: A One-parent test for a Two-parent; The Atlantic 2017). Normally, there are 46 chromosomes in a cell; 23 from the egg and the
As women move to there 30s and late 40s, the risks are prematurity, fetal death, Down syndrome, and complications during birth.
B. Professor Jérôme Lejeune, a French Pediatrician and Geneticist, discovered that Down syndrome was a chromosomal abnormality in 1959.
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the
mother could have a Down Syndrome baby even though there was never any sign of
Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).
Risk of down syndrome can be evaluated by screening for presence of serum alpha –
gestational age, and other medical issues (Tin & Gupta, 2007). The question is because many
Answer: The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. To the genes when the cell division occurs is when the extra chromosome goes to find a cell and attaches
Also, Jeffrey Ecker suggests that mothers in this day and age have become less tolerant of birth risks and complications than mothers in years past. Mothers, he finds, repeatedly choose cesarean births because they are associated with less major complications, despite the fact that only about 5 percent of vaginal births experience such problems.20 Whereas a 5 percent rate of complications was simply accepted as a natural peril of life, today mothers find such perils
Down syndrome is one of the most common genetic disorders in the United States with 1 out of close to every 700 births being linked to the disorder. When identifying the cause of Down syndrome, again we have to look at the extra, very important part of chromosome 21 that occurs in all or some associated with Down syndrome. Although there is no real scientific research showing that Down syndrome is caused by environmental factors or even the parents ' activities before or during pregnancy, research has shown that it increases in
In the past this may have been considered a dangerous trend. We know that older women are likely to have more complications during pregnancy and older parents are more likely to have children with birth defects such as Down syndrome and Autism; however, we also know that money (great insurance) and modern medicine not only make it possible to detect certain defects early, but also offer parents-to-be more
known risk factor is advanced maternal age-at age 35, a woman has 1 chance in
Also, there is a greater risk of a child having Down syndrome if the mother is over 35 years old.
Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.
Typically, the nucleus of each cell stores forty-six chromosomes. Half of these chromosomes derive from each parent cell. However, in those with Down syndrome, the cells contain forty-seven chromosomes. Researchers’ knowledge of the etiology of Down syndrome has grown since it was first described in 1866 by John Langon Down (National Down Syndrome Society, 2012). According to the National Down Syndrome Association (2012), 95% of the Down syndrome cases are caused by a fault in cell division. Although it is clear that this disorder occurs because of an alteration during cell division, the cause as to why this occurs is unknown. However, the pathogenesis of this disorder is clear. The pathogenesis of this disorder begins with nondisjunction during meiosis, which is failure of the chromosomes to separate. Today, it is known that there