Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA obtained from maternal blood. We assayed cell-free DNA from a training set and a blinded validation set of pregnant women, comprising 2...

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Veröffentlicht in:American journal of obstetrics and gynecology Jg. 206; H. 4; S. 319.e1 - 319.e9
Hauptverfasser: Sparks, Andrew B., Struble, Craig A., Wang, Eric T., Song, Ken, Oliphant, Arnold
Format: Journal Article
Sprache:Englisch
Veröffentlicht: New York, NY Mosby, Inc 01.04.2012
Elsevier
Schlagworte:
Adult
aneuploidy detection
Biological and medical sciences
Case-Control Studies
Chromosome aberrations
Chromosomes, Human, Pair 18 - genetics
DNA - blood
DNA - genetics
Down syndrome
Down Syndrome - diagnosis
Female
Fetus
Gynecology. Andrology. Obstetrics
Humans
Male
Medical genetics
Medical sciences
noninvasive prenatal diagnostics
Obstetrics and Gynecology
Pregnancy
Pregnancy Trimester, First - blood
Prenatal Diagnosis - methods
Risk
Sensitivity and Specificity
trisomy
Trisomy - diagnosis
aneuploidy detection
noninvasive prenatal diagnostics
Down syndrome
trisomy
Chromosomal aberration
Trisomy
Gynecology
Aneuploidy
Obstetrics
Blood
Chromosome E18
Prenatal diagnosis
Mother
DNA
Cell
Edwards syndrome
ISSN:0002-9378, 1097-6868, 1097-6868
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Zusammenfassung:We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA obtained from maternal blood. We assayed cell-free DNA from a training set and a blinded validation set of pregnant women, comprising 250 disomy, 72 T21, and 16 T18 pregnancies. We used digital analysis of selected regions in combination with a novel algorithm, fetal-fraction optimized risk of trisomy evaluation (FORTE), to determine trisomy risk for each subject. In all, 163/171 subjects in the training set passed quality control criteria. Using a Z statistic, 35/35 T21 cases and 7/7 T18 cases had Z statistic >3 and 120/121 disomic cases had Z statistic <3. FORTE produced an individualized trisomy risk score for each subject, and correctly discriminated all T21 and T18 cases from disomic cases. All 167 subjects in the blinded validation set passed quality control and FORTE performance matched that observed in the training set correctly discriminating 36/36 T21 cases and 8/8 T18 cases from 123/123 disomic cases. Digital analysis of selected regions and FORTE enable accurate, scalable noninvasive fetal aneuploidy detection.
Bibliographie: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.2012.01.030