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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Vydané v:	American journal of obstetrics and gynecology Ročník 206; číslo 4; s. 319.e1 - 319.e9
Hlavní autori:	Sparks, Andrew B., Struble, Craig A., Wang, Eric T., Song, Ken, Oliphant, Arnold
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York, NY Mosby, Inc 01.04.2012 Elsevier
Predmet:	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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Popis
Shrnutí:	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.
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.2012.01.030