Discordant noninvasive prenatal testing and cytogenetic results: A study of 109 consecutive cases

Genetics in Medicine

Volumn 17, Issue 3, 2015, Pages 234-236

  Wang, Jia Chi ^a   Sahoo, Trilochan ^a,b   Schonberg, Steven ^a   Kopita, Kimberly A ^a   Ross, Leslie ^a   Patek, Kyla ^a   Strom, Charles M ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b CombiMatrix ^*  (United States)

Author keywords

false positive; noninvasive prenatal testing; positive predictive value; sensitivity; specificity

Indexed keywords

ARTICLE; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; PRENATAL SCREENING; SEX CHROMOSOME ABERRATION; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 13; TRISOMY 18; TRISOMY 21; CELL FREE SYSTEM; CHROMOSOME 18; CHROMOSOME ANALYSIS; DOWN SYNDROME; FEMALE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; SENSITIVITY AND SPECIFICITY; TRISOMY;

CELL-FREE SYSTEM; CHROMOSOMES, HUMAN, PAIR 18; CYTOGENETIC ANALYSIS; DOWN SYNDROME; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; TRISOMY;

EID: 84928470965     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.92     Document Type: Article

References (5)

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3. Meck JM, Dugan EK, Aviram A, et al. Non-invasive prenatal screening: a cytogenetic perspective. In: Oral Platform Presentations: Cytogenetics, Abstract #17, American College of Medical Genetics and Genomics 2014 Annual Meeting, Nashville, Tennessee, USA, 2014.
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