| DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. | |
| | |
MedLine Citation:
|
PMID: 22281937 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Purpose:To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13.Methods:Sixty-two pregnancies with trisomy 18 and 12 with trisomy 13 were selected from a cohort of 4,664 pregnancies along with matched euploid controls (including 212 additional Down syndrome and matched controls already reported), and their samples tested using a laboratory-developed, next-generation sequencing test. Interpretation of the results for chromosome 18 and 13 included adjustment for CG content bias.Results:Among the 99.1% of samples interpreted (1,971/1,988), observed trisomy 18 and 13 detection rates were 100% (59/59) and 91.7% (11/12) at false-positive rates of 0.28% and 0.97%, respectively. Among the 17 samples without an interpretation, three were trisomy 18. If z-score cutoffs for trisomy 18 and 13 were raised slightly, the overall false-positive rates for the three aneuploidies could be as low as 0.1% (2/1,688) at an overall detection rate of 98.9% (280/283) for common aneuploidies. An independent academic laboratory confirmed performance in a subset.Conclusion:Among high-risk pregnancies, sequencing circulating cell-free DNA detects nearly all cases of Down syndrome, trisomy 18, and trisomy 13, at a low false-positive rate. This can potentially reduce invasive diagnostic procedures and related fetal losses by 95%. Evidence supports clinical testing for these aneuploidies.Genet Med advance online publication 26 January 2012. |
| | |
Authors:
|
Glenn E Palomaki; Cosmin Deciu; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Louis M Neveux; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Wayne W Grody; Stanley F Nelson; Jacob A Canick |
Related Documents
:
|
16962917 - Monitoring the effects and managing the side effects of anticoagulation during pregnancy. 21994897 - Microchimerism: sharing genes in illness and in health. 15006717 - The safety of antithrombotic therapy during pregnancy. 22385547 - Pregnancy during adolescence has lasting adverse effects on blood lipids: a 10-year lon... 3919617 - Mac for halothane, enflurane, and isoflurane in the new zealand white rabbit: and a tes... 3974197 - Influence of housing conditions on pregnancy outcome in cynomolgus monkeys (macaca fasc... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-1-26 |
Journal Detail:
|
Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: - ISSN: 1530-0366 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
|
Created Date: 2012-1-27 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9815831 Medline TA: Genet Med Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The development and implementation of an in-service exam for medical genetics residency programs.
Next Document: Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.