{"id":4213,"date":"2019-04-22T06:10:31","date_gmt":"2019-04-22T06:10:31","guid":{"rendered":"https:\/\/www.mybiosource.com\/learn\/?p=4213"},"modified":"2023-03-10T19:15:34","modified_gmt":"2023-03-10T19:15:34","slug":"trisomy-awareness-month","status":"publish","type":"post","link":"https:\/\/www.mybiosource.com\/learn\/trisomy-awareness-month\/","title":{"rendered":"Trisomy awareness month"},"content":{"rendered":"<div class=\"flex-1 overflow-hidden\">\n<div class=\"react-scroll-to-bottom--css-ntpsl-79elbk h-full dark:bg-gray-800\">\n<div class=\"react-scroll-to-bottom--css-ntpsl-1n7m0yu\">\n<div class=\"flex flex-col items-center text-sm dark:bg-gray-800\">\n<div class=\"w-full border-b border-black\/10 dark:border-gray-900\/50 text-gray-800 dark:text-gray-100 group bg-gray-50 dark:bg-[#444654]\">\n<div class=\"text-base gap-4 md:gap-6 m-auto md:max-w-2xl lg:max-w-2xl xl:max-w-3xl p-4 md:py-6 flex lg:px-0\">\n<div class=\"relative flex w-[calc(100%-50px)] flex-col gap-1 md:gap-3 lg:w-[calc(100%-115px)]\">\n<div class=\"flex flex-grow flex-col gap-3\">\n<div class=\"min-h-[20px] flex flex-col items-start gap-4 whitespace-pre-wrap\">\n<div class=\"markdown prose w-full break-words dark:prose-invert light\">\n<table style=\"background-color: #e3dcdc;\">\n<tbody>\n<tr>\n<td width=\"460\">\n<h3 style=\"padding-left: 80px;\"><strong><u>Table of Contents<\/u><\/strong><\/h3>\n<p style=\"padding-left: 40px;\"><a href=\"#1\">\u2022 <strong>Introduction: What is Trisomy?<\/strong><\/a><br \/>\n<a href=\"#2\">\u2022 <strong>Some of the Indications of Trisomy\u00a0disorders during pregnancy<\/strong><\/a><br \/>\n<a href=\"#3\">\u2022 <strong>Trisomy Awareness Month: Purpose and Ways to get involved<\/strong><\/a><br \/>\n<a href=\"#4\">\u2022 <strong>Trisomy 21 &#8211; Down Syndrome: Types, Symptoms and Features\u00a0<\/strong><\/a><br \/>\n<a href=\"#5\">\u2022 <strong>Trisomy 18<\/strong> &#8211; <strong>Edwards Syndrome: Prevalence and Common Problems<\/strong><\/a><br \/>\n<a href=\"#6\">\u2022<strong> Trisomy 13<\/strong> &#8211;<strong> Patau Syndrome: Rare genetic disorder and associated medical problems<\/strong><\/a><br \/>\n<a href=\"#7\"><strong>\u2022 Conclusion: Importance of early intervention and support for individuals with Trisomy disorders<\/strong><\/a><\/p>\n<p>&nbsp;<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"react-scroll-to-bottom--css-ntpsl-1n7m0yu\">\n<hr \/>\n<p><span id=\"urn:enhancement-7d5010e2-82e2-46fb-9576-b2d2e53edf0d\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">Trisomy<\/span> is a chromosomal disorder when the affected individual has an additional chromosome, i.e, 47 chromosomes instead of 46. This abnormality is caused by the improper egg maturation and occurs spontaneously during conception. The random errors during <span id=\"urn:enhancement-79e2637f-ea10-4807-b9ac-380717bec9ee\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/cell-division\" style=\"background-color: #ffffff;\">cell division<\/span> seriously impact the future development of the unborn baby with health problems ranging from mild intellectual and developmental disabilities to severe physical and cognitive problems. One of the major risk factors of <span id=\"urn:enhancement-0795a938-2875-4f46-a174-701d2349668f\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">trisomy<\/span> is the maternal age as women in their late 30s and 40s are more likely to have infants with <span id=\"urn:enhancement-7be3f567-63b8-41df-aa2d-cce0b12e4c20\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">trisomy<\/span>. One of the well-known types is <span id=\"urn:enhancement-3e1ebb38-452f-44da-a57a-727e1bdaa10b\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy-21\" style=\"background-color: #ffffff;\">trisomy 21<\/span>, also known as Down syndrome. The less frequent types are Edward syndrome (<span id=\"urn:enhancement-e361795e-f1bf-429a-9f90-cac45d864b3c\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy-18\" style=\"background-color: #ffffff;\">trisomy 18<\/span>), and Patau syndrome (<span id=\"urn:enhancement-c659e313-50fe-41ea-b5ce-165fb80e9c5e\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy-13\" style=\"background-color: #ffffff;\">trisomy 13<\/span>). However, a <span id=\"urn:enhancement-8516816a-3639-4798-b3b7-530085a94c5f\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">trisomy<\/span> can be detected during prenatal diagnostic testing but could also be identified after the birth of the baby with a blood test.<\/p>\n<p id=\"2\">The prenatal tests used to detect <span id=\"urn:enhancement-301e5bc1-78f0-4822-bb64-99f1f99bf640\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">trisomy<\/span> disorders can include ultrasound scans, maternal serum screening, amniocentesis, non-invasive prenatal testing (NIPT) and chorionic villi sampling. Some of the indications of <span id=\"urn:enhancement-8c7dfa02-e6a1-4bf9-856d-9d8c61132b20\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy\" style=\"background-color: #ffffff;\">trisomy<\/span> disorders during pregnancy include;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<ul>\n<li>Excess amniotic fluid enveloping the infant<\/li>\n<li>The baby appears to be small for its gestational age<\/li>\n<li>The baby is not as active as expected<\/li>\n<li>Only one umbilical cord artery is detected<\/li>\n<li>Congenital defects such as heart abnormalities can be identified during ultrasound scans<\/li>\n<\/ul>\n<p id=\"3\">The Trisomy Awareness Month in March now involves many organizations who try to raise awareness about the cause, treatment of these genetic disorders and the challenges they pose to the families. For those interested in more information about National Trisomy Awareness month, please visit <a href=\"https:\/\/www.nichd.nih.gov\/newsroom\/resources\/spotlight\/031513-trisomy#more\">nichd.nih.gov<\/a>. Alternative ways an individual could get involved in the awareness month is by reaching out to families having a child living with Trisomy Disorder and learning more about their life or by teaching others about the disorder.<\/p>\n<p>&nbsp;<\/p>\n<p id=\"4\">Trisomy 21 \u2013 Down Syndrome<\/p>\n<p>It is also known as Trisomy 21, as affected individuals have three copies of chromosome 21 instead of two. One of the most common trisomy is Down syndrome and according to the <span id=\"urn:enhancement-f8752fa4-4c49-4d0e-86ca-0a17e17d5b84\" class=\"textannotation disambiguated wl-organization\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/centers-for-disease-control-and-prevention\">Centers for Disease Control and Prevention<\/span> (CDC), Down syndrome occurs about 1 in 700 live births in the United States annually. There are three types of this disorder and the most common one is Standard Trisomy 21 when either the father\u2019s sperm or the mother\u2019s egg contains the extra chromosome. In the case of Mosaic Down Syndrome, the extra chromosome spontaneously occurs as the embryo develops. The <span id=\"urn:enhancement-cb3b8170-8db6-4842-a1f0-eaace53ab555\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/translocation\">Translocation<\/span> Down Syndrome is inheritable and accounts for around 5% of the cases.<\/p>\n<p><em>\u2018Because Down Syndrome is associated with mild to moderate intellectual disability, early intervention is essential to maximizing the potential of each child\u2019, says Karen Leydiker, a board-certified genetic counselor in CHOC\u2019s Metabolic Clinic.<\/em><\/p>\n<p>Some of the features of Down syndrome include;<\/p>\n<ul>\n<li>Relatively short limbs<\/li>\n<li>Flattened face<\/li>\n<li>Small teeth<\/li>\n<li>Physical growth delays<\/li>\n<li>Language and Hearing deficits<\/li>\n<li>Mild to severe intellectual disability<\/li>\n<li>Outwardly slanted eyes<\/li>\n<li>Flat ears set low on the head<\/li>\n<\/ul>\n<p>The <span id=\"urn:enhancement-40faf9db-3a5f-4a7f-b5cd-e3211c0858b5\" class=\"textannotation disambiguated wl-organization\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/nih\">NIH<\/span> had launched DS-Connect, a Down Syndrome Registry which is a powerful resource to facilitate information sharing among people with Down Syndrome, their family members, researchers and support groups. It also helps support recruitment for clinical studies on Down syndrome and interested individuals can contact the researchers about participating. For more details about DS-Connect, click <a href=\"https:\/\/dsconnect.nih.gov\">here<\/a>.<\/p>\n<p>&nbsp;<\/p>\n<p id=\"5\">Trisomy 18 (Edwards Syndrome)<\/p>\n<p>This is caused by the error in cell division, known as meiotic disjunction, which can disrupt the normal development of the infant in significant ways. The prevalence is estimated to be about 1 out of every 2,500 pregnancies in the United States and 1 in 6,000 live births. Unlike Down syndrome, Trisomy 18 presents more medical complications that can be life-threatening in the early years of their life. It is estimated that around 50% of the infants carried to full term will be born alive although baby boys will experience higher mortality rates.<\/p>\n<p>Some of the common problems associated with Trisomy 18 include;<\/p>\n<ul>\n<li>Heart defects<\/li>\n<li>Kidney problems<\/li>\n<li>Severe developmental delays<\/li>\n<li>Esophagus not connected to the stomach<\/li>\n<li>Pocket of fluid on the brain<\/li>\n<li>Small head (<span id=\"urn:enhancement-fc558e5f-9520-440d-b8b2-f204c59a603c\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/microcephaly\">microcephaly<\/span>)<\/li>\n<li>Delayed growth<\/li>\n<\/ul>\n<p>For those interested in getting the latest news and updates about <span id=\"urn:enhancement-3e53657c-7d04-4140-9b17-49009a914caf\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/trisomy-18\">Trisomy 18<\/span>, to get involved or to connect with other families, visit <a href=\"https:\/\/www.trisomy18.org\/get-involved\/connect-with-other-families\/\">Trisomy18 Foundation<\/a>.<\/p>\n<p>&nbsp;<\/p>\n<p id=\"6\">Trisomy 13 (Patau syndrome)<\/p>\n<p>This is a rare genetic disorder that is estimated to affect around 1 in every 5,000 births and occurs because of an additional copy of chromosome 13 in some or all of the cells in the body. It severely disrupts the normal development of the baby who continues to grow slowly in the womb, have a low birth weight and about 80% of them will be born with severe heart defects. Often, the brain does not divide into two halves in a condition known as holoprosencephaly which can result in features such as cleft lip and palate, absence of one or both the eyes, problems with the development of the nasal passages and abnormally small eyes. Additional problems can include;<\/p>\n<ul>\n<li>Severe Intellectual disability<\/li>\n<li>Skin missing from the scalp<\/li>\n<li>Ear malformations<\/li>\n<li>Small head (<span id=\"urn:enhancement-cf26ab36-7ae2-42f6-8755-d4ccfb2683ed\" class=\"textannotation disambiguated wl-thing\" itemid=\"https:\/\/data.wordlift.io\/wl1503301\/entity\/microcephaly\">microcephaly<\/span>)<\/li>\n<li>Abnormal cysts in the kidneys<\/li>\n<li>Abdominal wall defect<\/li>\n<li>Abnormally small penis in boys and enlarged clitoris in girls<\/li>\n<\/ul>\n<p>Because of various life-threatening medical problems, these infants tend to die within their initial days or weeks of life and only around 10% of them continue to live past their first year. However, around 5 to 10% of babies with the less severe forms of the syndrome could continue to live for more than a year.<\/p>\n<p>&nbsp;<\/p>\n<p id=\"7\">Genetic Counseling<\/p>\n<p>Couples expecting a baby with a genetic problem could benefit from meeting genetic counselors which is not only limited to parents but also open to family and friends who may have questions or need to learn more about the condition. Genetic counseling could also involve a discussion about genetic tests, information about relevant patient support groups and advice if your child is affected by an inherited condition or if the couple wants to have another child.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Table of Contents \u2022 Introduction: What is Trisomy? \u2022 Some of the Indications of Trisomy\u00a0disorders during pregnancy \u2022 Trisomy Awareness Month: Purpose and Ways to get involved \u2022 Trisomy 21 &#8211; Down Syndrome: Types, Symptoms and Features\u00a0 \u2022 Trisomy 18 &#8211; Edwards Syndrome: Prevalence and Common Problems \u2022 Trisomy 13 &#8211; Patau Syndrome: Rare genetic [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"off","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[31],"tags":[],"class_list":["post-4213","post","type-post","status-publish","format-standard","hentry","category-news"],"_links":{"self":[{"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/posts\/4213","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/comments?post=4213"}],"version-history":[{"count":0,"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/posts\/4213\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/media?parent=4213"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/categories?post=4213"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.mybiosource.com\/learn\/wp-json\/wp\/v2\/tags?post=4213"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}