Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma

Prenatal Diagnosis

Volumn 34, Issue 8, 2014, Pages 778-783

  Benn, Peter ^a   Cuckle, Howard ^b  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b NewYork Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; DNA;

ARTICLE; CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; DOWN SYNDROME; FALSE POSITIVE RESULT; FEMALE; FETUS; HUMAN; MATERNAL PLASMA; PRENATAL SCREENING; PRIORITY JOURNAL; STATISTICAL PARAMETERS; BLOOD; MATERNAL SERUM SCREENING TEST; PREGNANCY;

DNA; DOWN SYNDROME; FEMALE; HUMANS; MATERNAL SERUM SCREENING TESTS; PREGNANCY;

EID: 84905233420     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4366     Document Type: Article

References (24)

1. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy - current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
2. Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 2014;60:78-87.
3. Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008;105:16266-71.
4. 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 U S A 2008;105:20458-63.
5. Evans MI, Wright D, Pergament E, et al. Digital PCR for non-invasive detection of aneuploidy: power analysis equations for feasibility. Fetal Diagn Ther 2012;31:244-7.
6. Ehrich M, Deciu C, Zweifellhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e201-205e211.
7. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.
8. Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing: of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042-9.
9. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
10. Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32:3-9.
11. Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-74.
12. Ensembl release 73. 2013. http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=21 Accessed 11/21/2014.
13. Nygren AO, Dean J, Jenson TJ, et al. Quantification of fetal DNA by use of methylation-based DNA discrimination. Clin Chem 2010;56:1627-35.
14. Ashoor G, Syngelaki A, Poon LC, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013;41:26-32.
15. Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013;33:662-6.
16. Wegrzyn P, Faro C, Falcon O, et al. Placental volume measured by three-dimensional ultrasound at 11 to 13+6 weeks of gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol 2005;26:28-32.
17. Rava RP, Srinivasan A, Shnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014;60:243-50.
18. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. Brit Med J 2011;342: c7401.
19. Yu S, Jiang P, Choy KW, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLOS One 2013;8:e60968.
20. Peters D, Chu T, Yatsenko SA, et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med 2011;365:1847-8.
21. Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012;58:1148-51
22. Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal sub chromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013;92:167-76.
23. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 2013;209:415-9.
24. Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-41.