Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of...

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Vydané v:	American journal of obstetrics and gynecology Ročník 207; číslo 2; s. 137.e1 - 137.e8
Hlavní autori:	Norton, Mary E., Brar, Herb, Weiss, Jonathan, Karimi, Ardeshir, Laurent, Louise C., Caughey, Aaron B., Rodriguez, M. Hellen, Williams, John, Mitchell, Michael E., Adair, Charles D., Lee, Hanmin, Jacobsson, Bo, Tomlinson, Mark W., Oepkes, Dick, Hollemon, Desiree, Sparks, Andrew B., Oliphant, Arnold, Song, Ken
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York, NY Mosby, Inc 01.08.2012 Elsevier
Predmet:	Adolescent Adult Algorithms aneuploidy detection Biological and medical sciences cell-free fetal DNA Chromosome aberrations Chromosomes, Human, Pair 18 - genetics Chromosomes, Human, Pair 21 - genetics DNA - blood Down syndrome Down Syndrome - diagnosis Female Gynecology. Andrology. Obstetrics Humans Medical genetics Medical sciences Middle Aged noninvasive prenatal diagnosis Obstetrics and Gynecology Predictive Value of Tests Pregnancy Prenatal Diagnosis - methods Prospective Studies Risk Assessment Sensitivity and Specificity trisomy Trisomy - diagnosis Trisomy - genetics Young Adult aneuploidy detection noninvasive prenatal diagnosis Down syndrome trisomy cell-free fetal DNA Chromosomal aberration Trisomy Multicenter study Gynecology Aneuploidy Obstetrics Pregnancy Chromosome E18 Cohort study Non invasive method Fetus Detection Edwards syndrome
ISSN:	0002-9378, 1097-6868, 1097-6868
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Shrnutí:	We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject. Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100% (95% confidence interval [CI], 95.5–100%) and a false-positive rate of 0.03% (95% CI, 0.002–0.20%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4% (95% CI, 86.5–99.9%) and a false-positive rate of 0.07% (95% CI, 0.02–0.25%). Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18.
Bibliografia:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0002-9378 1097-6868 1097-6868
DOI:	10.1016/j.ajog.2012.05.021