Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

Journal of Translational Medicine

Volumn 13, Issue 1, 2015, Pages

  Lebo, Roger V ^a   Novak, Robert W ^a   Wolfe, Katherine ^a   Michelson, Melonie ^a   Robinson, Haynes ^a   Mancuso, Melissa S ^a  

^a AKRON CHILDREN'S HOSPITAL   (United States)

Author keywords

cfDNA; Circulating trophoblast DNA; Discordance

Indexed keywords

CIRCULATING FETAL DNA; DNA; UNCLASSIFIED DRUG; 4',6 DIAMIDINO 2 PHENYLINDOLE; INDOLE DERIVATIVE;

AMNIOCENTESIS; AMNION CELL; ARTICLE; BLOOD SAMPLING; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CYTOGENETICS; FALSE NEGATIVE RESULT; FEMALE; FETUS; FETUS DEVELOPMENT; FETUS ECHOGRAPHY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HUMAN; KARYOTYPING; MATERNAL PLASMA; MONOSOMY X; NEWBORN; NON INVASIVE PRENATAL TEST; PRENATAL SCREENING; RECIPROCAL CHROMOSOME TRANSLOCATION; REPRODUCTIVE FITNESS; TRISOMY 18; TRISOMY 21; X CHROMOSOME; Y CHROMOSOME; BLOOD; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; DOWN SYNDROME; GENE TRANSLOCATION; GENETICS; GENOTYPE; MALE; METABOLISM; MICROARRAY ANALYSIS; MOSAICISM; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

AMNIOCENTESIS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, X; CYTOGENETIC ANALYSIS; DNA; DOWN SYNDROME; FALSE NEGATIVE REACTIONS; FEMALE; FETUS; GENOTYPE; HUMANS; INDOLES; INFANT, NEWBORN; KARYOTYPING; MALE; MICROARRAY ANALYSIS; MOSAICISM; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 84938798145     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/s12967-015-0569-y     Document Type: Article

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