Although Down syndrome is used as a general term, several forms of this syndrome exist. Trisomy 21 is considered one of the most common genetic chromosomal disorders in the world. This year alone, approximately 6000 children within the United States will be born with this genetic disorder. Trisomy 21, also known as Down syndrome is defined as a set of physical and mental traits caused by an abnormal gene mutation that happens before birth. This genetic disorder varies in severity, causes intellectual disability and developmental delays, and can cause health problems. Although Trisomy 21 is a lifelong condition, with the proper care and support most children can grow up to have happy, healthy and productive lives.
Medical experts believe the …show more content…
The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests to all pregnant women. Screening for Down syndrome is offered as a routine part of prenatal care. Screening tests include the first trimester combined test and the integrated screening test. The first trimester combined test is done in two steps and includes a blood test and a sonogram. The blood test, also known as the 1st trimester screen, measures the levels of pregnancy-associated plasma protein A (PAPP-A) and the pregnancy hormone human chorionic gonadotropin (hCG). PAPP-A levels should increase throughout pregnancy. Decreased levels are associated with Downs. Ultrasound is used to measure the nuchal fold on the back of the fetus’ neck. When abnormalities are present, excess amounts of fluid collect in this neck tissue. Free beta-hCG and PAPP-A evaluated in combination with the nuchal translucency measurement in the first trimester is considered a sensitive screening tool for Down syndrome detection. The integrated screening test, done in the early second trimester, is also known as the quad screen. This screening test combines three serum markers: Alpha-fetoprotein (AFP), hCG, and unconjugated estriol. A fetus with Trisomy 21 reveals high hCG levels along with decreased levels of AFP and estriol. Although screening tests aren't perfect, they can help make …show more content…
There are more than 50 features of Down syndrome but not every person has all the same features. Some features are more common than others. Common facial features include: Flattened facial features, Slanted eyes with an epicanthal fold or skin that covers the inner eye. A nasal bridge that looks pushed in. Small round ears set low on the head. An irregularly shaped mouth and a protruding tongue. Body size and shape is also different among people with Down syndrome. As a child, they often grow slowly and are shorter than average as an adult. They have a short, wide neck possibly with excess fat and skin. Weak muscles throughout their body, short stocky arms and legs, small hands/feet and some also have a wide space between the big toe and second toe.
Each person with Down syndrome is unique and truly one of a kind — intellectual and developmental problems range from mild to moderate, some people are healthy while others have severe health problems. Children can have a variety of complications, some become more prominent as they get older, such as: Heart defects, Infectious diseases, Leukemia, dementia, obesity and sleep apnea. Life spans have dramatically increased for people with Down syndrome. In 1910, a baby often didn’t live to age 10. Today, someone with Downs can expect to live to age 60 and beyond, depending on the severity of health
Medical experts believe the …show more content…
The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests to all pregnant women. Screening for Down syndrome is offered as a routine part of prenatal care. Screening tests include the first trimester combined test and the integrated screening test. The first trimester combined test is done in two steps and includes a blood test and a sonogram. The blood test, also known as the 1st trimester screen, measures the levels of pregnancy-associated plasma protein A (PAPP-A) and the pregnancy hormone human chorionic gonadotropin (hCG). PAPP-A levels should increase throughout pregnancy. Decreased levels are associated with Downs. Ultrasound is used to measure the nuchal fold on the back of the fetus’ neck. When abnormalities are present, excess amounts of fluid collect in this neck tissue. Free beta-hCG and PAPP-A evaluated in combination with the nuchal translucency measurement in the first trimester is considered a sensitive screening tool for Down syndrome detection. The integrated screening test, done in the early second trimester, is also known as the quad screen. This screening test combines three serum markers: Alpha-fetoprotein (AFP), hCG, and unconjugated estriol. A fetus with Trisomy 21 reveals high hCG levels along with decreased levels of AFP and estriol. Although screening tests aren't perfect, they can help make …show more content…
There are more than 50 features of Down syndrome but not every person has all the same features. Some features are more common than others. Common facial features include: Flattened facial features, Slanted eyes with an epicanthal fold or skin that covers the inner eye. A nasal bridge that looks pushed in. Small round ears set low on the head. An irregularly shaped mouth and a protruding tongue. Body size and shape is also different among people with Down syndrome. As a child, they often grow slowly and are shorter than average as an adult. They have a short, wide neck possibly with excess fat and skin. Weak muscles throughout their body, short stocky arms and legs, small hands/feet and some also have a wide space between the big toe and second toe.
Each person with Down syndrome is unique and truly one of a kind — intellectual and developmental problems range from mild to moderate, some people are healthy while others have severe health problems. Children can have a variety of complications, some become more prominent as they get older, such as: Heart defects, Infectious diseases, Leukemia, dementia, obesity and sleep apnea. Life spans have dramatically increased for people with Down syndrome. In 1910, a baby often didn’t live to age 10. Today, someone with Downs can expect to live to age 60 and beyond, depending on the severity of health