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There are several other physical abnormalities that may be seen on an ultrasound examination that may be an indicator of Down syndrome. If any of the signs that the baby may have Down syndrome are present, your doctor will confirm the diagnosis using more invasive tests. In the United States, Down syndrome occurs in 1 of every 800 infants with many as 6,000 children born with Down syndrome each year. Down syndrome can be caused by one of three types of abnormal cell division involving chromosome 21.
Translocation Trisomy 21-Sometimes (in 3-4% of cases) part of chromosome 21 becomes attached (translocated) to another chromosome (usually the 13th, 14th or 15th chromosome) before or at conception. For couples who have had one child with Down syndrome due to translocation trisomy 21, there may be an increased likelihood of Down syndrome in future pregnancies. The chance of passing the translocation depends on the sex of the parent who carries the rearranged chromosome 21. In all cases of Down syndrome, but especially in cases with translocation trisomy 21, it is important for the parents to have genetic counseling in order to determine their risk. Generally, couples who have had one child with Down syndrome have a slightly increased risk (about 1%) of having a second child with Down syndrome. Parents who are carriers of the genetic translocation for Down syndrome have an increased risk depending on the type of translocation. There is no evidence of a man with Down syndrome fathering a child. While the incidence of births of children with Down syndrome increases with maternal age, more children are born to women under the age of 35 due to higher fertility rates.
In the January issue of Obstetrics & Gynecology, the American College of Obstetricians and Gynecologists released guidelines recommending screening for Down syndrome to all pregnant women during their first trimester. Diagnostic tests tend to be more expensive and have a degree of risk; screening tests are quick and easy to do.
Quad Marker Screen – Maternal blood is tested for four substances that normally come from a baby’s blood, brain, spinal fluid and amniotic fluid.
Triple Screen – During the 16th and 18th week of pregnancy a blood test can be performed which measures the quantities of three substances: Alpha-fetoprotein (AFP) which is produced by the fetus, human chorionic gonadotropin (hCG), and unconjugated estriol which is produced by the placenta. If the screening tests are positive or a high risk for Down syndrome exists, further testing might be needed. It is important to discuss the risks and benefits of testing thoroughly with your health care provider. The general health and quality of life for people with Down syndrome has improved drastically in recent years.
Assemble a team of professionals –Find a team of health care providers, teachers, and therapists that you trust to work with you in providing the best care for your child. Seek out other families – Support from those who have had similar experiences with a Down syndrome child can be very beneficial.
Don’t believe the myths about Down syndrome – Immense strides have been made in recent years with people who have Down syndrome.

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As a woman gets older, her risk for having a child with the condition increases dramatically. These are called "soft markers" because they do not necessarily mean that the baby has the condition.
During the first trimester, blood testing is done that measures a set of biochemical markers. Amniocentesis is a test whereby a long needle is inserted into the uterus and cells are taken from the amniotic fluid.
It was first described in 1866 and is named after John Langdon Down, the doctor who first identified the syndrome. It is estimated that about 85% of infants with Down syndrome survive one year and 50% of those will live longer than 50 years.
An extra chromosome (chromosome 21) originates in the development of either the sperm or the egg. While similar to simple trisomy 21, the difference is that the extra chromosome 21 is present in some, but not all cells, of the individual. The carrier (the one having the translocated chromosome) will have 45 chromosomes instead of 46 but they will have all the genetic material of a person with 46 chromosomes. If the father is the carrier, the risk is about 3 percent, with the mother as the carrier, the risk is about 12 percent.
Therefore, prenatal screening and genetic counseling are important. People with Down syndrome rarely reproduce. Screening tests do not provide conclusive answers, but rather, they provide an indication of the likelihood of the baby having Down syndrome. If the screening test is positive and a risk for Down syndrome exists, further testing may be recommended. However, screening tests have a greater chance of being wrong; there are “false-positive” (test indicates the baby has the condition when the baby really does not) and “false-negatives” (baby has the condition but the test indicates they do not). These screening tests do not provide conclusive answers but provide an indication of the likelihood of the baby having Down syndrome. In determining the results of the test, health care providers take into account the mother’s age, weight and ethnicity. If some or all of the characteristic Down syndrome features are present, the health care provider will order a chromosomal karyotype test to be done. Your health care provider will help you decide if the benefits from the results could outweigh any risks from the procedure. Mental and physical developments are usually slower in people with Down syndrome than for those without the condition.

However, children with Down syndrome would benefit from early medical assistance and developmental interventions beginning during infancy. Children with Down syndrome may benefit from speech therapy, physical therapy and occupational therapy.
Many adult patients are healthier, live longer, and participate more actively in society due to early intervention and therapy. These support groups can be found through local hospitals, physicians, schools and the Internet.
Your tax deductible contribution provides valuable education and more importantly support to women when they need it most. An abnormal measurement of pregnancy-associated plasma protein A (PAPP-A), or human chorionic gonadotropin (HCG) could be a sign of Down syndrome.
Chorionic villus sampling is a test that involves taking cells from the placenta, and percutaneous umbilical blood sampling is a test in which blood is taken from the umbilical cord.
According to the National Down Syndrome Society, there are more than 350,000 people living with Down syndrome in the United States.
When the egg and the sperm unite to form the fertilized egg, three (rather than two) chromosomes 21 are present. This is because the extra chromosome 21 material is located on a different chromosome (the translocated one). Fifteen to thirty percent of women with trisomy 21 are fertile and they have about a 50% risk of having a child with Down syndrome.
Then, an ultrasound is used to look at the nuchal translucency region under the skin behind the baby’s neck.
Infants born with Down syndrome may be of average size, but grow slowly and remain smaller than other children of the same age. Although there is no way of preventing Down syndrome, there are signs in pregnancy that can determine if a baby has it.
Lack of a nasal bone, dilation in the kidneys, and bowel or heart defects can all be signs that Down syndrome may be present.
False positives are common in blood tests, so your doctor will order more tests to help confirm and make a diagnosis. According to the Mayo Clinic, these tests are 98 percent accurate in confirming Down syndrome. In cellular mosaicism, the mixture can be seen in different cells of the same type; while with tissue mosaicism, one set of cells may have normal chromosomes and another type may have trisomy 21. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material.
They all carry a small risk of miscarriage, so are usually only performed if other signs of Down syndrome are present, or if the mother is at risk or over age 35.

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