{"id":1622,"date":"2022-03-21T11:18:05","date_gmt":"2022-03-21T11:18:05","guid":{"rendered":"https:\/\/drshellysingh.com\/blog\/?p=1622"},"modified":"2025-12-17T11:45:50","modified_gmt":"2025-12-17T11:45:50","slug":"downs-syndrome-day","status":"publish","type":"post","link":"https:\/\/drshellysingh.com\/blog\/downs-syndrome-day\/","title":{"rendered":"Downs Syndrome Day"},"content":{"rendered":"

21st March is celebrated as Down\u2019s syndrome day . Let us know a little about this .\u00a0<\/span><\/p>\n

What is Down\u2019s Syndrome ?
\n<\/span>A genetic syndrome characterized by mild to moderate intellectual disabilities , a particular kind of facial features- flattened face and nose , almond shaped slanting eyes , small ears and mouth , thyroid disease, heart disease , intestinal problems and sometimes Epilepsy , Leukemia and Alzheimer\u2019s disease .<\/p>\n

It occurs in about 1:500 births and risks increase with increasing maternal age .\u00a0<\/span><\/p>\n

There is an extra copy of chromosome 21 , hence the name Trisomy 21 .\u00a0<\/span><\/p>\n

What tests are done to detect Down\u2019s syndrome ?\u00a0<\/span><\/p>\n

There are 2 kinds of tests- screening tests and diagnostic tests.\u00a0<\/span><\/p>\n

Screening tests tell us your risk of having a baby with Down\u2019s syndrome ( along with Trisomy 13 and 18) whereas diagnostic tests either confirm or rule out the diagnosis .\u00a0<\/span><\/p>\n

Screening tests may be 1 st trimester or 2 nd trimester .
\n<\/span>1 st trimester screening tests involve an ultrasound called the NT NB scan which is done at 11-14 weeks . It is clubbed with a blood test that tests for 2 proteins called B HCG and PAPP-A . These biochemical markers are taken at 10-14 weeks. An assessment of risk of Down\u2019s syndrome is made taking these cumulative factors along with your age .\u00a0<\/span><\/p>\n

The second trimester screening involves assessment of 4 proteins in maternal blood ( quadruple test) along with a level 2 or anomaly ultrasound scan which specifically looks for some structural markers in the baby\u2019s organs for Down\u2019s syndrome .\u00a0<\/span><\/p>\n

The result will show as low risk or high risk . In case you are at high risk for the same , you may get the diagnostic tests done . Or there is also the option of a secondary screening test called NIPT . Consult your doctor for the best option for you .<\/p>\n

Are there any risks to your baby with these screening tests ?
\n<\/span>No .<\/p>\n

What diagnostic tests are done to confirm or rule out the diagnosis ?
\n<\/span>The diagnostic tests available are amniocentesis ( done at 16-20 weeks) that involves taking a bit of the amniotic fluid around the baby under ultrasound guidance and sending it for genetic testing for abnormal chromosomes .\u00a0<\/span><\/p>\n

The other test is CVS( Chorionic villous sampling that involves taking some placental tissue at 10-13 weeks and sending it for genetic testing .\u00a0<\/span><\/p>\n

Do diagnostic tests have risks?
\n<\/span>In good hands the risks are low . There are however risks of miscarriage .1:200 with CVS and 1:300-1:600 with Amniocentesis.\u00a0<\/span><\/p>\n

What choices do you have ?
\n<\/span>The choices are totally yours . You may decide to continue with a pregnancy even if proven to be a Down\u2019s baby or you may decide to terminate pregnancy . The options of going in for screening tests and diagnostic tests ,should the screening tests be high risk are again yours to make . However do talk to your obstetritian regarding all the choices available .\u00a0<\/span><\/p>\n

This Down\u2019s syndrome day let\u2019s be a little more educated , a little more aware and empowered . This article is a small step in that direction .<\/p>\n","protected":false},"excerpt":{"rendered":"

21st March is celebrated as Down\u2019s syndrome day . Let us know a little about this .\u00a0 What is Down\u2019s Syndrome ? A genetic syndrome characterized by mild to moderate intellectual disabilities , a particular kind of facial features- flattened face and nose , almond shaped slanting eyes , small ears and mouth , thyroid… Continue reading →<\/span><\/a><\/span><\/p>\n","protected":false},"author":2,"featured_media":1624,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[43],"tags":[],"class_list":["post-1622","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-syndome"],"yoast_head":"\nDowns Syndrome Day - Insights by Dr. Shelly Singh<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/drshellysingh.com\/blog\/downs-syndrome-day\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Downs Syndrome Day - Insights by Dr. Shelly Singh\" \/>\n<meta property=\"og:description\" content=\"21st March is celebrated as Down\u2019s syndrome day . 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