Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

American Journal of Obstetrics and Gynecology

Volumn 215, Issue 2, 2016, Pages 227.e1-227.e16

  Lefkowitz, Roy B ^a   Tynan, John A ^a   Liu, Tong ^a   Wu, Yijin ^a   Mazloom, Amin R ^a   Almasri, Eyad ^a   Hogg, Grant ^a   Angkachatchai, Vach ^a   Zhao, Chen ^a   Grosu, Daniel S ^a   McLennan, Graham ^a   Ehrich, Mathias ^a  

^a SEQUENOM INC   (United States)

Author keywords

cell free DNA; chromosomal copy number variant; genomewide; microdeletions; noninvasive prenatal testing; subchromosomal copy number variant

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME ABERRATION; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; FETUS KARYOTYPING; GENE LOSS; GENETIC GAIN; HUMAN; MATERNAL PLASMA; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TEST; PRENATAL SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCREENING; SENSITIVITY AND SPECIFICITY; SEX CHROMOSOME ABERRATION; SEX DETERMINATION; TRISOMY 13; TRISOMY 18; TRISOMY 21; VALIDATION STUDY; CHROMOSOME DISORDERS; DIAGNOSTIC IMAGING; DNA SEQUENCE; HIGH THROUGHPUT SEQUENCING; KARYOTYPING; MATERNAL AGE; MIDDLE AGED; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DNA COPY NUMBER VARIATIONS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KARYOTYPING; MATERNAL AGE; MIDDLE AGED; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84961857091     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2016.02.030     Document Type: Article

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