{"id":129,"date":"2019-03-12T04:37:48","date_gmt":"2019-03-12T04:37:48","guid":{"rendered":"https:\/\/shreeanshfetalcare.com\/blog\/?p=129"},"modified":"2019-03-12T04:37:48","modified_gmt":"2019-03-12T04:37:48","slug":"what-is-down-syndrome","status":"publish","type":"post","link":"https:\/\/shreeanshfetalcare.com\/blog\/what-is-down-syndrome\/","title":{"rendered":"What is Down Syndrome?"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. This genetic disorder, which varies in severity, causes lifelong intellectual disability and developmental delays, with characteristic facial features and in some people, it causes heart defects and other health problems.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-134\" src=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683-800x534.jpg\" alt=\"\" width=\"800\" height=\"534\" srcset=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683-800x534.jpg 800w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683-320x213.jpg 320w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683-560x374.jpg 560w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683-640x427.jpg 640w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/IMG_9412-1024x683.jpg 1024w\" sizes=\"auto, (max-width: 800px) 100vw, 800px\" \/><\/p>\n<p><span style=\"font-weight: 400;\"> Down syndrome is the most common genetic disorder and the cause of learning disabilities in children. Down syndrome occurs in about 1 in 800 newborns. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases, as a woman gets older.<\/span><\/p>\n<p><span style=\"color: #ff6600;\"><b>Genetic basis of Down syndrome<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the occurrence of Down syndrome. This type of error accounts for 95% of cases of the Down syndrome. In rest of 5% cases, it may be due to translocation error where a part of chromosome 21 becomes attached (translocated) on to another chromosome. These children have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-132\" src=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-800x450.jpg\" alt=\"\" width=\"800\" height=\"450\" srcset=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-800x450.jpg 800w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-1160x653.jpg 1160w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-320x180.jpg 320w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-560x315.jpg 560w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-640x360.jpg 640w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406-1120x630.jpg 1120w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/DOWN-SYNDROME-GUIDE-Causes-722x406.jpg 1440w\" sizes=\"auto, (max-width: 800px) 100vw, 800px\" \/><\/p>\n<p><b><span style=\"color: #ff6600;\">Is it inherited?<\/span> \u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Most of the time, it is sporadic, not inherited. It is caused by a mistake in cell division during the development of the egg, sperm or embryo.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have a translocation. \u00a0And only about one-third of these children inherited it from one of their parents.<\/span><\/p>\n<p><span style=\"color: #ff6600;\"><b>Risk Factors<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:<\/span><\/p>\n<ul>\n<li><b>Advancing Maternal Age-<\/b><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">A woman\u2019s chances of giving birth to a child with Down syndrome increases with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman\u2019s risk of conceiving a child with Down syndrome is about 1 in 350. BY age 40, the risk is about 1 in 100, and by age 45, the risk is about 1 in 30. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.<\/span><\/p>\n<ul>\n<li><b>Having had one child with Down syndrome-<\/b><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Typically, a woman who has one child with Down syndrome has about a 1% chance of having another child with Down syndrome.<\/span><\/p>\n<ul>\n<li><b>Being carriers of the genetic translocation for Down syndrome-<\/b><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Both men and women can pass the genetic translocation for Down syndrome on to their children.<\/span><\/p>\n<p><span style=\"color: #ff6600;\"><b>Symptoms<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">Down syndrome symptoms vary from person to person and can range from mild to severe. No matter the severity of the condition, persons with Down syndrome have a widely- recognized appearance. Common physical signs include:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Flattened facial features<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Small head<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Short neck<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Protruding tongue<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Upward slanting eyes, unusual for the child\u2019s ethnic group<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Unusually shaped or small ears<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Poor muscle tone<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Broad, short hands with a single crease in the palm<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Relatively short fingers and small hands and feet<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Children may also have delayed mental and social development. \u00a0Common Problems may include-\u00a0 impulsive behavior, Poor Judgment, Short attention span and slow learning.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-133\" src=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-800x800.png\" alt=\"\" width=\"800\" height=\"800\" srcset=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-800x800.png 800w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-320x320.png 320w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-560x560.png 560w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-90x90.png 90w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-640x640.png 640w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622-180x180.png 180w, https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/down-syndrome-symptoms-5b48ed4c46e0fb0054c53622.png 1001w\" sizes=\"auto, (max-width: 800px) 100vw, 800px\" \/><span style=\"color: #ff6600;\"><b>Complications or health problems associated with Down syndrome-<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">Children With Down syndrome can have a variety of complications, some of which become more prominent as they get older, such as:<\/span><\/p>\n<ul>\n<li><b>Heart defects-<\/b><span style=\"font-weight: 400;\"> About half the children with Down syndrome are born with some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy.<\/span><\/li>\n<li><b>Leukemia-<\/b><span style=\"font-weight: 400;\">Young Children with Down syndrome have an increased risk of leukemia.<\/span><\/li>\n<li><b> Infectious diseases- <\/b><span style=\"font-weight: 400;\">Because of abnormalities in their immune systems, those with Down syndrome are much more at risk of infectious diseases, such as pneumonia.<\/span><\/li>\n<li><b> Dementia- <\/b><span style=\"font-weight: 400;\">People with Down syndrome have a greatly increased risk of dementia. Having Down syndrome also increases the risk of developing Alzheimer\u2019s disease.<\/span><\/li>\n<\/ul>\n<ul>\n<li><b> Other problems-<\/b><span style=\"font-weight: 400;\"> Down syndrome may also be associated with other health conditions, including gastrointestinal blockage, thyroid problems, seizures, ear infections, hearing loss, skeletal problems, and poor vision.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff6600;\"><b>Tests and diagnosis<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age.<\/span><\/p>\n<ul>\n<li><b>Screening tests-<\/b><span style=\"font-weight: 400;\"> can indicate the likelihood a mother is carrying a baby with Down syndrome. <\/span><\/li>\n<li><b>Diagnostic tests- <\/b><span style=\"font-weight: 400;\">can identify whether your baby has Down syndrome or not.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff6600;\"><b>Screening tests during pregnancy<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">Screening for Down syndrome is offered as a routine part of antenatal care. This test can identify the pregnancies, which are at higher risk of having children with Down syndrome, and they can help you make decisions about more-specific diagnostic tests and the course of the pregnancy.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The first trimester combined test, which is done in two steps, includes:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">\u00a0<\/span><b>Blood Test- <\/b><span style=\"font-weight: 400;\">This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.<\/span><\/li>\n<li><span style=\"font-weight: 400;\"> \u00a0<\/span><b>Ultrasound<\/b><span style=\"font-weight: 400;\">&#8211; Ultrasound is done at 11-14 Weeks (NT scan) for measurement of nuchal translucency, nasal bone, tricuspid regurgitation, and ductus venous Doppler.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Using your age and the results of the blood test and the ultrasound, we can estimate your risk of having a baby with Down syndrome.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">When a Women comes late (after 14 weeks), screening test includes blood test (quadruple test) along with USG for soft markers upto 15-20 weeks.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-130 aligncenter\" src=\"https:\/\/shreeanshfetalcare.com\/blog\/wp-content\/uploads\/2019\/03\/6667704_orig.gif\" alt=\"\" width=\"469\" height=\"318\" \/><\/p>\n<p><span style=\"color: #ff6600;\"><b>Cell-Free Fetal DNA analysis (NIPT)<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">The cell-free fetal DNA test checks for fetal DNA circulating in the mother\u2019s blood. This test is usually recommended for women who have a higher risk of having a baby with Down syndrome or in response to risk detected by one of the previous tests. The mother\u2019s blood can be tested during pregnancy after 10 weeks gestation.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">This test appears to be much more specific than other screening methods for Down syndrome. If this screening test indicates a high risk of Down syndrome, a more invasive diagnostic test may be used to determine whether your baby actually has Down syndrome.<\/span><\/p>\n<p><span style=\"color: #ff6600;\"><b>Diagnostic tests during pregnancy<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">If your screening test results are positive or you\u2019re at high risk of having a baby with Down syndrome, you might consider for more testing to confirm the diagnosis.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Diagnostic tests that can identify Down syndrome include:<\/span><\/p>\n<ul>\n<li><b>\u00a0Amniocentesis-<\/b> <span style=\"font-weight: 400;\">A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother\u2019s uterus. This Sample is then used to analyze the chromosomes of the fetus. It is performed in the second trimester, after 16 weeks of pregnancy.<\/span><\/li>\n<li><b>Chorionic villus sampling (CVS)-<\/b> <span style=\"font-weight: 400;\">in CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. Typically performed in the first trimester, after 11 weeks of pregnancy.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff6600;\"><b>Management<\/b><\/span><\/p>\n<p><span style=\"font-weight: 400;\">If your child has Down syndrome, you\u2019ll likely rely on a team of specialists that, depending on your child\u2019s particular need, will provide your child medical care and help him or her develop skills as fully as possible.<\/span><\/p>\n<p><b>There is no cure For Down syndrome.<\/b><\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"post-excerpt\">Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. This genetic disorder, which varies in severity, causes lifelong intellectual disability&hellip;<\/div>\n","protected":false},"author":1,"featured_media":131,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-129","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/posts\/129","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/comments?post=129"}],"version-history":[{"count":4,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/posts\/129\/revisions"}],"predecessor-version":[{"id":138,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/posts\/129\/revisions\/138"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/media\/131"}],"wp:attachment":[{"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/media?parent=129"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/categories?post=129"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/shreeanshfetalcare.com\/blog\/wp-json\/wp\/v2\/tags?post=129"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}