What Causes Down Syndrome?

Down's affection is authentic as a ache that comes about because of a abiogenetic aberancy that abnormally affects the brainy capabilities and concrete appearance of an afflicted person. Individuals with this action absolutely generally acquaintance capricious degrees of medical and concrete issues. Some bodies with the ache are able to auspiciously advance moderately approved lives while others charge assiduous medical care. It affects 1 in 800 newborns and is said to be added accepted with earlier mothers. The ache cannot be prevented, about it can be apparent in utero, afore the babyish is born. There is still abundant altercation in affiliation to the ramifications of abiogenetic testing for Down'ssyndrome. It has been empiric that an estimated 90-93% of pregnancies with a Down's babies were aborted already this was articular through assorted forms of abiogenetic testing methods.

The angle for accouchement with Down's affection has decidedly bigger in contempo years. The approved activity amount for an alone with Down's affection was 25 years old in the 1980's it has now risen to 49 years of age in present times. Bodies with the ache will usually be barren abnormally males who are alone partially abundant in acutely attenuate instances. Most accouchement with Down's affection will additionally acquaintance acutely bargain cerebral abilities. However, with bare medical intervention, ancestors abutment and abstruse training the adolescent with bottomward affection can apprentice to overcome, to some extent, his or her disabilities.

What Causes Down's Syndrome

The disease as mentioned before is caused by a genetic irregularity. A normal person will have 46 chromosomes, 23 of which will be inherited from either parent. In an individual with Down's syndrome he or she will have an overall number of 47 chromosomes or essentially 1 more chromosome than is expected. This chromosomal abnormality manifests because of an extra copy of the 21st chromosome. The effect of the extra copy will vary among affected people.





The condition cannot be prevented and is said to be a randomly occurring event. However women over the age of 35 are at an increased risk of conceiving a child with Down syndrome. The risk for different age groups are listed below:

• Women who are 25 years of age will typically have a 1in 1,250 chance of having a Down's baby.

• Women who are 30 years of age will normally have. 1 in 1000 chance of having a Down's baby.

• Women who are 35 years of age will normally have 1in 400 chance of having a Down's baby.

• Women who are 40 years of age will typically have 1 in 100 chance of having a Down's baby.

• Women who are 45 years of age will normally have. 1 in 30 chance of having a Down's baby.

The odds of conceiving a child with Down's Syndrome may also be associated with a familial genetic irregularity. A person who has a balanced translocation will not show any signs of down syndrome but will have an elveated risk of conceiving a child with translocation Down syndrome. The estimated risk is 1 in 5 for the female carrier and 1 in 50 for a male carrier. In some cases where there is no unattached copy of chromosome 21 the carrier's offspring will all have Down's Syndrome. The affected parent is therefore said to be a translocation carrier. This sort of Down's syndrome is said to occur in 2-3% of all Down's syndrome cases.

Doctors found that what causes Down syndrome environmentally may be the parents' age. For example, a 25-year-old mother has a 1/3,000 chance of having a baby with Down syndrome. By age 35, her risk will have increased to 1/365 and by 45, it will be a 1/30 chance of having a baby with the genetic condition! The latest Down syndrome research suggests that older fathers are now responsible for the 50% rise in risk, when the mother is also over 40.

Even though the odds get worse as the parents age, 80% of these babies are born to women who are 35 or younger. However, that statistic can also be explained because younger women are having many more babies. Younger mothers who smoke and have a meiotic II error or who smoke and take oral contraceptives are at increased risk for having a Down child as well.

During pregnancy, there are several screening tests to examine what causes Down syndrome. Some people get blood tests like the quad screen, which reveals chromosomal disorders between the eleventh and fourteenth weeks of pregnancy. Doctors look for plasma protein-A and the human chorionic gonadotropin hormone.

This test is about 87% effective in making a Down syndrome diagnosis. Ultrasound is another method to check for abnormalities. While these tests may give parents peace of mind, they may also set off a false alarm. Even though 1/20 women test positive, most will go on to deliver healthy babies anyway.

Free Screening To Detect Down's Syndrome

A NEW way of screening for Down’s syndrome in pregnant women has been introduced at Crewe's Leighton Hospital.

It is one of the first hospitals in the North West to offer combined Nuchal Translucency (NT) screening free of charge for NHS patients.

The test is a well established means of improving the detection rate of Down’s-affected pregnancies within the first few months of pregnancy.

It involves having an ultrasound scan and blood test between 11 and 14 weeks of pregnancy.

Simon Cunningham, consultant obstetrician at Leighton, said: “The combined NT test allows for earlier detection of Down’s.

"Women who are found to have a high risk result can be offered further diagnostic testing such as chorionic villus biopsy which is available from 11 weeks or amniocentesis which is available from 15 weeks.

"Both techniques are available in the Women’s Health Unit at Leighton Hospital.

“The combined method of testing is a more accurate form of screening than the traditional quadruple test – research shows the new screening has an 86% detection rate compared to the 78% detection rate for the traditional test.

"The main benefits of the combined NT test are that it is more specific and that it allows diagnosis and investigation of Down’s syndrome earlier in the pregnancy.”

All pregnant women who book to deliver at Leighton Hospital are offered a free combined NT screen between 11-14 weeks of pregnancy.

Mr Cunningham continues: “During the appointment, biometric details are taken to increase the accuracy of the test.

"The necessary blood samples are taken and then the thickness of the Nuchal space at the back to the fetal neck is measured.

"Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average.

“Results are normally available within three to four working days and women with a high-risk result are contacted by a member of our fetal medicine screening midwifery team and offered an appointment to be counselled about their options.”

Folic acid and vitamin B12 for pregnant women may avoiding down syndrome

Folic acid (also known as vitamin B9 or folacin) and folate (the naturally occurring form), as well as pteroyl-L-glutamic acid and pteroyl-L-glutamate, are forms of the water-soluble vitamin B9. Folic acid is itself not biologically active, but its biological importance is due to tetrahydrofolate and other derivatives after its conversion to dihydrofolic acid in the liver.

Vitamin B9 (folic acid and folate inclusive) is essential to numerous bodily functions ranging from nucleotide biosynthesis to the remethylation of homocysteine. The human body needs folate to synthesize DNA, repair DNA, and methylate DNA as well as to act as a cofactor in biological reactions involving folate. It is especially important during periods of rapid cell division and growth. Both children and adults require folic acid to produce healthy red blood cells and prevent anemia. Folate and folic acid derive their names from the Latin word folium (which means "leaf"). Leafy vegetables are a principal source, although in Western diets fortified cereals and bread may be a larger dietary source.


Studies conducted by the University of Maryland Medical Center show that folic acid deficiency is the biggest problem for those lacking in vitamin B. If you are lacking in folic acid it can cause you to experience stunted growth, mental sluggishness and breathing difficulties to name a few.

A deficiency in folic acid also showed signs of causing growth problems, swelling of the tongue, gum disease, poor appetite, gastroenteritis, moodiness, forgetfulness, foggy brain and shortness of breath. The University of Maryland Medical Centre claims to have conducted extensive research to support these beliefs.

When a woman is pregnant, the growing baby needs to take a lot of folic acid from her own supply. It is quiet common for pregnant women to develop a folic acid deficiency, and in serious cases can result in spinal bifida or brain damage for the child.

Diseases everyone has heard of such as Alzheimer's, coronary disease, Down's syndrome and osteoporosis are all connected to folic acid deficiency. This is because it can result in razing homocysteine (an amino acid) levels, which can be avoided by taking a vitamin b12 supplement

If you want to avoid problems developing from a folic acid deficiency, you need to have a good look at your diet and consider a good vitamin B supplement. Vegetables like asparagus, beetroot, beef liver, whole grains, root vegetables and soy beans are high in folic acid. When you choose your vitamin B supplement find one that offers the full range of B's so you cover all your bases.

Of all the B vitamins, folic acid is the one people are mostly lacking. Taking a vitamin B supplement can help you avoid problems with appetite, growth, breathing and learning to name a few. Folic acid is detrimental during pregnancy to avoid the baby being born with problems like spinal bifida or Down syndrome. When you purchase a vitamin B product, make sure it is a complete complex that has all the types of b vitamins.


Article Source: http://EzineArticles.com/?expert=Rich_Fuller

Tips on How to Prevent Down Syndrome

Since Down syndrome is a genetic disorder, there is truly no definite preventive measure that can fully stop it from happening. However, the randomness of the occurrence can lead to the development of preventive measures that can alleviate the occurrence. Knowing the risks can also aid parents get ready for the possibility. Here are some more details.

About the Risks

The most common known risk of Down syndrome may be increasing occurrence with increasing maternal age. Although the happening is random in nature, the possibility actually increases as mothers grow older. Mothers below 25 years old has a 1 in every 1,400 births chance of producing a Down syndrome baby. At 30 years old, the figures continue to increase until the age of 45 years and above, when the chances are almost 1 in every 12 births.

The condition of the mother can also matter. Inadequate supply of folic acid, which is a B vitamin may be linked to the occurrence of Down syndrome. Mothers who have inherently low folate levels have a higher risk of having a baby with Down syndrome compared to others. The chances increase by 320%. To prevent the problem, mothers are advised to take folic acid supplements and practice screening techniques and diagnostic tests if they get pregnant at age 35 or later.

Avoiding Pregnancy

The most common way to prevent Down syndrome for parents may be to avoid pregnancy altogether once they reach the age of 35. However, for some parents, doctors recommend a family planning approach that can help indicate the possibility of occurrence. The Down syndrome birth prevalence in any given country may be estimated via the proportion of maternities during every age. Maternal and paternal ages should be considered very well to determine if there are chances of producing babies with Down syndrome.

Early Diagnosis

Parents should make it a point to undergo screening and diagnostic tests to stay ahead before other complications can arise. They can start methods at 11 to 12 weeks of pregnancy and continue up to the third trimester. Some of the known methods include ultrasound, expanded AFP screening, chorionic villus sampling, amniocentesis and nuchal translucency screening.

Women having a history of inherited translocation or having a previous pregnancy with a form of Down syndrome that is non-inherited should gain access to PGD. The technique is limited depending on the presence of normal embryos in families. Only around 1% of Down syndrome pregnancies involve women with a family history of the disorder. Biochemical, epidemiological and molecular evidence shows a link between the condition and defect in methyl and folate metabolism.

Healthier Lifestyle

Just the same as preventing any other disease, individuals should practice living healthier lives by exercising regularly, eating healthily and getting more of the nutritious vitamins and minerals. They should get enough rest per night and relieve stress by taking antioxidants and improving their social lives.

Family planning should be done even before marriage, especially for couples who are carriers of translocation, whether it is the male or female parent. Parents may try to complete their family before the age of 30. The birth prevalence can be cut by as much as 50% with the strategy. Further research and constant studies can help provide more information so keep updated through the internet, books and experts.

What, How its Happen and Type of Down Syndrome

What is Down syndrome?

Down syndrome is caused by a person having three copies of chromosome 21 instead of two copies. This is why Down syndrome is also referred to by the name Trisomy 21. The picture above shows a genetic analysis of a person with Down syndrome. You will notice that the arrow is pointing to the set of number 21 chromosomes. Instead of a pair of chromosomes, as is found in all the other chromosomes, number 21 includes three chromosomes. It is important to understand that all of the chromosomes of this person are normal. It is the fact that there is an extra chromosome that causes Down syndrome. Every cell in a person with Down syndrome will contain 47 chromosomes (with the exception of Mosaic Down syndrome which is discussed below) instead of 46 chromosomes. There are many theories about how the extra chromosome causes the effects of Down syndrome but little is currently known. Research, however, is continuing and a breakthrough may provide possible treatments to lessen the effects.

How does this happen?

During cell division to create a germ cell (either sperm or egg), a cell containing 46 chromosomes divides into two germ cells each containing 23 chromosomes. Sometimes this division does not happen properly and one cell may contain 22 chromosomes and the other may contain 24 chromosomes. This can happen if the chromosomes do not properly separate and instead "stick together." This is called nondisjunction because the chromosomes have failed to disjoin or split-up. 75% of the time it is the egg cell which carries the additional chromosomal material, 25% of the time it is the sperm cell. If the cell containing 24 chromosomes combines with a cell containing 23 chromosomes, the new cell will contain 47 chromosomes instead of 46. If the trisomy is chromosome 21, the person will have Down syndrome. Other conditions arise if the duplicated chromosome is a different chromosome. If the trisomy is chromosome 13, the person will have Patau's syndrome. If the trisomy is chromosome 18, the person will have Edward's syndrome. These conditions are rarer than Down syndrome and have their own characteristics which are different than Down syndrome.

Are there different types of Down syndrome?

There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism.

Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.

Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome.

Mosaicism is when a person has a mix of cells, some containing 46 chromosomes and some containing 47 chromosomes. This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.

Understanding Down Syndrome - Children With An Extra Copy Of Chromosome 21

It is believed that around 5 000 of the babies born in the USA each year, have Down syndrome. The syndrome is named after Dr John Langdon Down who identified the syndrome in 1866. It is caused by an extra copy of chromosome 21 in all the cells of the body.

The reason why it happens is unknown and it can occur in any family. There is no proof that is affects a specific race or sex more than the others. Mothers over 40 have a greater chance of having a Down syndrome baby than younger mothers. Having one baby with Down syndrome doesn’t mean it will affect all babies born after that, but the risk becomes higher.

Down syndrome children have specific physical features such as a round face and small chin. Many also have vision problems and tend to wear glasses. Growth is normally slowed down and they seldom grow very tall. Almond shaped eyes and an oversized tongue are other typical features. Because of the oversized tongues, speech can sometimes be difficult.

Their cognitive abilities are usually lower than those of other children and a small number are severely mentally disabled. Down syndrome children are more prone to heart diseases, ear infections and thyroid problems than other children. Treating this at a young age is necessary to prevent further illnesses later in their lives.

Caring for a child with Down syndrome has its own challenges but parents of these children often report the special bond that they have with their children and wouldn’t want it any other way. These children are loving and caring by nature. Unless there are other mental problems, they usually enjoy the company of people and should be exposed to that.

Down syndrome children will benefit from early childhood therapy such as speech and physical therapy. Life expectancy for people with Down syndrome, for many years, was around twenty to twenty five years. That has changed now and Down syndrome babies can, on average, have a life expectancy of fifty to sixty years.

These children can normally attend mainstream schools where extra assistance is available. They learn slower than other children, but many are educated enough to be able to have a regular job and a few even attend college.

Down syndrome children might have different and more challenges than many other children but with the appropriate care and love, can have full and happy lives.

By: Jared W

Pregnancy Over The Age Of 40 Risks

There are many reasons why being pregnant over the age of 40 are terrific. Statistics bear out that "mature" mothers raise children who are more likely to do well in school and lead successful, professional lives. Not to say that younger mothers can't do this but the statistics show that a higher proportion of older mother raises children who go on to be "successful" adults. This is a great benefit to those older mothers who wishes to raise a child.

Of course there are risks with conceiving at this age. One of the primary concerns your doctor will have is chromosomal problems that lead to Down syndrome. Studies indicate that your pregnancy has a 1 in 42 chance of having a baby with Down syndrome compared to the 1 in 1562 when you were in your 20s. Due to the health issues surrounding the pregnancy, your doctor will offer extra testing to determine chromosome problems your fetus may have which would be amniocentesis. Now, with this test, there is a 1 in 200 chance of losing your baby. This test is completely optional so you will have to determine the risks and benefits of this test.

Other risks that you are more prone to since you are over 40 depend on your overall health. Some studies have shown that women of a more advanced age see an increased risk of growth problems, preterm labor, preeclampsia, high blood pressure, and diabetes. You should not be too worried as your age alone does not automatically mean you or your baby will experience any of these problems but they are real risks that you will want to keep in mind. If you are in overall good health, studies have shown that your risks will not be too great when compared to a younger woman.

Try not to worry about what could go wrong too much. Though some of the risks do seem frightening, you should enjoy your pregnancy and the thought of your future baby as, again, you will be more likely to provide a stable, nurturing environment that your child needs to thrive.

By: Peter Yoo