Curtin University researchers have found a new non-invasive test for Down syndrome could increase detection rates and significantly reduce the need for invasive diagnostic procedures, which can cause miscarriages.<\/p>\n
Professor Peter O\u2019Leary, Deputy Director at Curtin\u2019s Centre for Population Health Research, said Down syndrome was the most common chromosome abnormality in humans.<\/p>\n
\u201cExpectant mothers are offered a screening test in their first trimester to estimate the risk of their fetus having Down syndrome. Those found to have a high risk are offered diagnostic testing,\u201d Professor O\u2019Leary said.<\/p>\n
\u201cThe current diagnostic tests, such as amniocentesis, are invasive and carry a small risk of miscarriage.<\/p>\n
\u201cOur study sought to analyse how cost-effective it would be to include a new non-invasive prenatal test as a second-tier test to provide a more accurate risk estimate, prior to offering invasive testing.\u201d<\/p>\n
The study reviewed 32,478 single baby pregnancies screened between January 2005 and December 2006 in Western Australia and found by including the new non-invasive test, the number of invasive diagnostic procedures and procedure-related miscarriages would have been reduced in high-risk women by 88 per cent.<\/p>\n
\u201cCurrently, 75 per cent of women choose to have invasive diagnostic testing following a high-risk result,\u201d Professor O\u2019Leary said.<\/p>\n
\u201cOur study found that if all pregnant women identified as high-risk, adopted this non-invasive testing method, up to seven additional cases of the genetic disorder could be confirmed during pregnancy over two years.<\/p>\n
\u201cWe also found that implementing this new testing method would increase the cost of prenatal screening for Down syndrome to the public health system by less than 10 per cent.\u201d<\/p>\n
The new, non-invasive test is currently available only in the private health sector in Australia.<\/p>\n
The study titled Prenatal screening for Down syndrome in Australia: Costs and benefits of current and novel screening strategies<\/i> is available online at http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajo.12117\/pdf<\/a> or http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24090461<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":" Curtin University researchers have found a new non-invasive test for Down syndrome could increase detection rates and significantly reduce the need for invasive diagnostic procedures, which can cause miscarriages.<\/p>\n","protected":false},"author":4275,"featured_media":0,"template":"","meta":{"_acf_changed":false,"_oasis_is_in_workflow":0,"_oasis_original":0,"_oasis_task_priority":"","_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","wds_primary_category":0,"wds_primary_research-areas":0,"footnotes":""},"categories":[4],"tags":[],"research-areas":[],"class_list":["post-18220","media-release","type-media-release","status-publish","hentry","category-research"],"acf":{"post_options":{"":null,"additional_content":{"title":"Notes to the Editor","content":" Down syndrome occurs in one in every 350 pregnancies in Western Australia. It occurs at conception, affects all ethnic and social groups and there is no cure.<\/p>\n Down syndrome is caused by a third copy of chromosome 21.<\/p>\n