| Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome. | |
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MedLine Citation:
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PMID: 20216321 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To compare the number and types of chromosome abnormalities prenatally diagnosed and the number of invasive procedures between current prenatal testing pathways and a pathway where noninvasive prenatal diagnosis for Down syndrome replaces Down syndrome screening tests. METHODS: Numbers and types of chromosome abnormalities for each referral category were extracted from prenatal diagnostic testing reports routinely collected in Victoria, Australia, in 2006 and 2007. These data were then applied to the proposed implementation strategy. RESULTS: If noninvasive prenatal diagnosis for Down syndrome had replaced Down syndrome screening tests in 2006 and 2007, in Victoria, there would have been 25 (7%) additional Down syndrome diagnosed, 6896 (84%) fewer invasive procedures, and 231 (56%) non-Down syndrome chromosome abnormalities no longer detected. These include trisomy 13, trisomy 18, sex chromosome abnormalities, balanced and unbalanced rearrangements, polyploidy, and mosaic results. CONCLUSIONS: The potential loss of information about chromosome abnormalities other than Down syndrome with noninvasive prenatal diagnosis compared with full karyotyping with traditional prenatal diagnosis should be considered when planning for the implementation of new technologies. |
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Authors:
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Marleen R Susman; David J Amor; Evelyne Muggli; Alice M Jaques; Jane Halliday |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 12 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-05-12 Completed Date: 2010-08-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 298-303 Citation Subset: IM |
Affiliation:
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Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. marleen.susman@mcri.edu.au |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Australia Chromosome Aberrations Chromosome Disorders / genetics Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Down Syndrome / diagnosis*, genetics Female Humans Karyotyping / methods Mass Screening Population Groups / genetics Prenatal Diagnosis / methods* Sex Chromosome Aberrations Syndrome Trisomy Victoria |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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