Copy-number variation and false positive prenatal aneuploidy screening results

New England Journal of Medicine

Volumn 372, Issue 17, 2015, Pages 1639-1645

  Snyder, Matthew W ^a   Simmons, LaVone E ^b   Kitzman, Jacob O ^a   Coe, Bradley P ^a   Henson, Jessica M ^b   Daza, Riza M ^a   Eichler, Evan E ^a   Shendure, Jay ^a   Gammill, Hilary S ^b,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c USA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; CELL FREE SYSTEM; CHROMOSOME 18; CHROMOSOME DUPLICATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; FALSE POSITIVE RESULT; FEMALE; HUMAN; INCIDENCE; NON INVASIVE PROCEDURE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRENATAL ANEUPLOIDY; PRENATAL SCREENING; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; BLOOD; CHROMOSOME 13; CHROMOSOME 21; CHROMOSOME DISORDERS; LABORATORY DIAGNOSIS; PREGNANCY; PRENATAL DIAGNOSIS; STATISTICAL MODEL;

ADULT; ANEUPLOIDY; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; DNA; DNA COPY NUMBER VARIATIONS; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; MODELS, STATISTICAL; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84928473928     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1408408     Document Type: Article

References (21)

1. Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med 2015;372:1675-7.
2. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
3. Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206(4):322.e1-322.e5.
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(5):374.e1-374.e6.
5. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808.
6. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589-97.
7. Mennuti MT, Cherry AM, Morrissette JJD, 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.
8. Lau TK, Jiang FM, Stevenson RJ, et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013;33:602-8.
9. Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014;60:251-9.
10. Osborne CM, Hardisty E, Devers P, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013;33:609-11.
11. Lau TK, Cheung SW, Lo PSS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol 2014;43:254-64.
12. Grati FR, Malvestiti F, Ferreira JC, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med 2014;16:620-4.
13. Mao J, Wang T, Wang BJ, et al. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clin Chim Acta 2014;433:190-3.
14. 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.
15. 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 U S A 2008;105:16266-71.
16. Chiu RWK, Chan KCA, 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.
17. 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.
18. Nygren AO, Dean J, Jensen TJ, et al. Quantification of fetal DNA by use of methylation-based DNA discrimination. Clin Chem 2010;56:1627-35.
19. Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014;60:243-50.
20. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013;92:167-76.
21. Society for Maternal-Fetal Medicine. SMFM statement: maternal serum cell-free DNA screening in low risk women (http://www.smfm.org/publications/157-smfm-statement-maternal-serum-cell-free-dna-screening-in-low-risk-women).