Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening

Ultrasound in Obstetrics and Gynecology

Volumn 49, Issue 4, 2017, Pages 460-464

  Cirigliano, V ^a   Ordonez E ^a   Rueda, L ^a   Syngelaki, A ^b   Nicolaides, K H ^b  

^a SYNLAB ACADEMY   (Germany)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

cell free DNA; paired end sequencing; screening; trisomy

Indexed keywords

DNA;

ADULT; BLOOD; CELL FREE SYSTEM; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; DOWN SYNDROME; FEMALE; HIGH THROUGHPUT SEQUENCING; HUMAN; MATERNAL AGE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; SENSITIVITY AND SPECIFICITY; TRISOMY;

ADULT; CELL-FREE SYSTEM; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DNA; DOWN SYNDROME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MATERNAL AGE; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; TRISOMY;

EID: 85014218402     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.17386     Document Type: Article

References (19)

1. Chiu RWK, Chan KCA, Gao Y, Lau VYM, Zheng W, Leung TY, Foo CHF, Xie B, Tsui NBY, Lun FMF, Zee BCY, Lau TK, Cantor CR, Lo YMD. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008; 105: 20458–20463.
2. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008; 105: 16266–162271.
3. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 319.e1–9.
4. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012; 207: 374.e1–6.
5. Yeang CH, Ma GC, Hsu HW, Lin YS, Chang SM, Cheng PJ, Chen CA, Ni YH, Chen M. Genome-wide normalized score: a novel algorithm to detect fetal trisomy 21 during non-invasive prenatal testing. Ultrasound Obstet Gynecol 2014; 44: 25–30.
6. Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014; 60: 243–250.
7. Fan CH, 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
8. Yu SC, Chan KC, Zheng YW, Jiang P, Liao GJ, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RW, Lo YM. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci USA 2014; 111: 8583–8588.
9. Kim SK, Hannum G, Geis J, Tynan J, Hogg G, Zhao C, Jensen TJ, Mazloom AR, Oeth P, Ehrich M, van den Boom D, Deciu C. Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts. Prenat Diagn 2015; 35: 810–815.
10. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31: 7–15.
11. Robinson HP, Fleming JE. A critical evaluation of sonar crown rump length measurements. Br J Obstet Gynaecol 1975; 82: 702–710.
12. Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, Oeth P, van den Boom D, Deciu C. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 2015; 61: 608–616.
13. Fan CH, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem 2010; 56: 1279–1286.
14. Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011; 57: 1042–1049.
15. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249–266.
16. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 2011; 13: 913–920.
17. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667–674.
18. Benn P, Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014; 34: 778–783.
19. Wright D, Wright A, Nicolaides KH. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015; 45: 48–54.