Most people with Down syndrome have physical characteristics that look different from normal people. They have upward slanting eyes, low muscle tone, small stature and a short neck, a flat nose, and a protruding tongue. Most people with Down syndrome have poor cognitive features with mild to moderate mental disabilities. They also have an increased risk to congenital heart defects, respitory or hearing problems, Alzheimer’s disease, childhood leukemia, epilepsy and thyroid conditions. Although they do have a lower risk of some types of cancers, diabetes, and hardening of the arteries.
Approximately 1 in 750 babies are born with Down syndrome. Women under 30 have a 1 in 1000 chance of having a baby with Down syndrome while women who are 50 will have a 1 in 10 chance. The older the women gets the more often dis-conjunction happens while producing gametes.
Prenatal exams such as nuchal translucency screening, triple or quadruple screen, integrated screen, or a genetic ultrasound can tell if the baby has any physical signs of Down syndrome. These do not guarantee a diagnosis. Things that can confirm a diagnosis are chorionic villus sampling, amniocentesis, and percutaneous umbilical cord sampling can all confirm whether or not the baby has down syndrome positively by taking a karyotype of one of the cells.
There is currently no cure for Down syndrome but the goals are to try to control some of the serious symptoms and manage any medical problems. This includes check-ups, screenings, medications, and sometimes, surgery. Types of anti-seizure medications can help someone with seizures. People with thyroids often take thyroid replacement medication. When the baby is young they often have to have heart surgery because of congenital heart disease.
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Home pregnancy tests can find the presence of a pregnancy hormone (called human chorionic gonadotropin or hCG) in a sample of urine. High levels of hCG are made during pregnancy.…