A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

Prenatal Diagnosis

Volumn 33, Issue 7, 2013, Pages 707-710

  Guex, N ^a   Iseli, C ^a   Syngelaki, A ^b   Deluen, C ^c   Pescia, G ^d,e   Nicolaides, K H ^b   Xenarios, I ^a   Conrad, B ^e,f  

^a SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c FASTERIS SA   (Switzerland)

^d Aurigen   (Switzerland)

^e Genesupport   (Switzerland)

^f MCL ^*  (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALGORITHM; ANEUPLOIDY; ARTICLE; CAT CRY SYNDROME; CELL FREE SYSTEM; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME 4; CHROMOSOME 5; CHROMOSOME 6; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA MICROARRAY; DNA SEQUENCE; FEMALE; FETUS; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; KARYOTYPE; KARYOTYPE 45,X; KARYOTYPE 47,XXX; MAJOR CLINICAL STUDY; MATERNAL BLOOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; STRUCTURAL CHROMOSOME ABERRATION; TRISOMY; TRISOMY 13; TRISOMY 16; TRISOMY 18; TRISOMY 21; TRISOMY 22; TURNER SYNDROME; WOLF HIRSCHHORN SYNDROME; X CHROMOSOME ABERRATION;

ANEUPLOIDY; DNA; FEMALE; GENETIC TESTING; HUMANS; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SEX CHROMOSOME ABERRATIONS; TRISOMY;

EID: 84880039886     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4130     Document Type: Article

References (10)

1. Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008;105:266-71.
2. Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008;105:20458-63.
3. Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6:e21791.
4. Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 2010;5:e10439.
5. Bianchi DW, Platt LD, Goldberg JD. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
6. Faas BH, de Ligt J, Janssen I, et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther 2012; (Suppl 1):S19-26.
7. Choi H, Lau TK, Jiang FM, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn. 2013;33:198-200.
8. Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012;31:237-43.
9. Yandell M, Ence D. A beginner's guide to eukaryotic genome annotation. Nat Rev Genet 2012;18(13):329-42.
10. Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012;32:986-95.