DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

TitleDNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.
Publication TypeJournal Article
Year of Publication2012
AuthorsPalomaki, GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Volume14
Issue3
Pagination296-305
Date Published2012 Mar
ISSN1530-0366
KeywordsAdult, Case-Control Studies, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, DNA, Down Syndrome, Female, Humans, Middle Aged, Pregnancy, Prenatal Diagnosis, Reproducibility of Results, Sensitivity and Specificity, Sequence Analysis, DNA, Trisomy, United States, Young Adult
Abstract

To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13.

DOI10.1111/j.1465-3362.2010.00271.x
Alternate JournalGenet. Med.