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

Genetics in Medicine

Volumn 14, Issue 3, 2012, Pages 296-305

  Palomaki, Glenn E ^a   Deciu, Cosmin ^b   Kloza, Edward M ^a   Lambert Messerlian, Geralyn M ^a   Haddow, James E ^a   Neveux, Louis M ^a   Ehrich, Mathias ^b   Van Den Boom, Dirk ^b   Bombard, Allan T ^b,c   Grody, Wayne W ^d   Nelson, Stanley F ^d   Canick, Jacob A ^a  

^a BROWN UNIVERSITY   (United States)

^b SEQUENOM INC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

clinical validation; detection rate; false positive rate; fetal DNA; massively parallel shotgun sequencing; prenatal screening; trisomy 13; trisomy 18

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; BLOOD SAMPLING; CHROMOSOME 13; CHROMOSOME 18; CLINICAL TRIAL; CONTROLLED STUDY; DNA SEQUENCE; DOWN SYNDROME; FALSE POSITIVE RESULT; FEMALE; HIGH RISK PATIENT; HUMAN; MATERNAL PLASMA; TRISOMY 13; TRISOMY 18;

ADULT; 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;

EID: 84857868297     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.73     Document Type: Article

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