The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform

PLoS ONE

Volumn 9, Issue 10, 2014, Pages

  Jeon, Young Joo ^a,b   Zhou, Yulin ^c   Li, Yihan ^d   Guo, Qiwei ^c   Chen, Jinchun ^d   Quan, Shengmao ^e   Zhang, Ahong ^e   Zheng, Hailing ^e   Zhu, Xingqiang ^e   Lin, Jin ^e   Xu, Huan ^e   Wu, Ayang ^f   Park, Sin Gi ^a,b   Kim, Byung Chul ^g,h   Joo, Hee Jae ^a,b   Chen, Hongliang ^e   Bhak, Jong ^a,b,h,i  

^a Theragen ETEX Bio Institute   (South Korea)

^b Genome Care   (South Korea)

^c Prenatal Diagnosis Center   (China)

^d FUJIAN UNIVERSITY OF TRADITIONAL CHINESE MEDICINE   (China)

^e Xiamen Vangenes BioTech ^*  (China)

^f FUJIAN MEDICAL UNIVERSITY   (China)

^g Clinomics Inc   (South Korea)

^h Personal Genomics Institute   (South Korea)

ⁱ Ulsan National Institute of Science and Technology   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

PROTON;

ADULT; ARTICLE; CHROMOSOME MAP; COHORT ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA LIBRARY; FEASIBILITY STUDY; FEMALE; FETUS; FETUS RISK; GENETIC ANALYZER; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MATERNAL CARE; NON INVASIVE FETAL TRISOMY 18; NON INVASIVE FETAL TRISOMY 21; NON INVASIVE PROCEDURE; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PREGNANT WOMAN; PRENATAL DIAGNOSIS; RATING SCALE; SCORING SYSTEM; SEMICONDUCTOR; SEMICONDUCTOR SEQUENCE; SENSITIVITY AND SPECIFICITY; TRISOMY 18; TRISOMY 21; Z SCORE; CHROMOSOME 18; DEVICES; DNA SEQUENCE; DOWN SYNDROME; GENETICS; HIGH THROUGHPUT SEQUENCING; PREGNANCY; TRISOMY; YOUNG ADULT;

ADULT; CHROMOSOMES, HUMAN, PAIR 18; DOWN SYNDROME; FEASIBILITY STUDIES; FEMALE; FETUS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; SEMICONDUCTORS; SEQUENCE ANALYSIS, DNA; TRISOMY; YOUNG ADULT;

EID: 84908178938     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0110240     Document Type: Article

References (37)

1. Morgan S, Delbarre A, Ward P (2013) Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England. Ultrasound Obstet Gynecol 41: 526-529.
2. ACOG Committee on Practice Bulletins (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 109: 217-227.
3. Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31: 7-15.
4. Fortuny A, Borrell A, Soler A, Casals E, Costa D, et al. (1995) Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre. Prenat Diagn 15: 541-550.
5. Crandall BF, Kulch P, Tabsh K (1994) Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controls. Prenat Diagn 14: 913-919.
6. Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27: 1-7.
7. van den Berg M, Timmermans DR, Kleinveld JH, Garcia E, van Vugt JM, et al. (2005) Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons. Prenat Diagn 25: 84-90.
8. Borrell A, Casals E, Fortuny A, Farre MT, Gonce A, et al. (2004) First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study. Prenat Diagn 24: 541-545.
9. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH (2008) Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 31: 618-624.
10. Berktold L, von Kaisenberg CS, Hillemanns P, Vaske B, Schmidt P (2013) Analysis of the impact of PAPP-A, free b-hCG and nuchal translucency thickness on the advanced first trimester screening. Arch Gynecol Obstet 287: 413-420.
11. Muñoz-Cortes M, Arigita M, Falguera G, Seres A, Guix D, et al. (2012) Contingent screening for Down syndrome completed in the first trimester: a multicenter study. Ultrasound Obstet Gynecol 39: 396-400.
12. Sainz JA, Serrano R, Borrero C, Turmo E (2012) First trimester contingent test as a screening method for Down's syndrome. A prospective study in the general population. J Matern Fetal Neonatal Med 25: 2221-2224.
13. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
14. Benn P, Cuckle H, Pergament E (2013) Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 42: 15-33.
15. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, et al. (2012) Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207: 137.e1-8.
16. Chan KC, Zhang J, Hui AB, Wong N, Lau TK, et al. (2004) Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 50: 88-92.
17. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, et al. (1999) Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64: 218-224.
18. Smid M, Galbiati S, Vassallo A, Gambini D, Ferrari A, et al. (2003) No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet 112: 617-618.
19. Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, et al. (in press) Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med DOI: 10.1038/gim.2014.3.
20. McNamara CJ, Limone LA, Westover T, Miller RC (2014) Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing. Obstet Gynecol 123: 69S-70S.
21. Wang Y, Chen Y, Tian F, Zhang J, Song Z, et al. (2014) Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 60: 251-259.
22. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, et al. (2014) DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370: 799-808.
23. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A (2012) 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 206: 319.e1-9.
24. Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, et al. (2014) 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 43: 254-264.
25. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, et al. (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204: 205.e1-11.
26. Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH (2012) Chromosome-selective sequencing of maternal plasma cell-free DNA for firsttrimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 206: 322.e1-5.
27. Liao C, Yin AH, Peng CF, Fu F, Yang JX, et al. (2014) Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci U S A 111: 7415-7420.
28. Barch MJ, Knutsen T, Spurbeck JL (1997) The AGT Cytogenetics Laboratory Manual, 3rd edn. New York: Lippincott-Raven publishers.
29. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
30. Langmead B, Trapnell C, Pop M, Salzberg SL (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 10: R25.
31. Li R, Yu C, Li Y, Lam TW, Yiu SM, et al. (2009) SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25: 1966-1967.
32. Quail MA, Smith M, Coupland P, Otto TD, Harris SR, et al. (2012) A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13: 341.
33. Boland JF, Chung CC, Roberson D, Mitchell J, Zhang X, et al. (2013) The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet 132: 1153-1163.
34. Chen S, Li S, Xie W, Li X, Zhang C, et al. (2014) Performance Comparison between Rapid Sequencing Platforms for Ultra-Low Coverage Sequencing Strategy. PLoS One 9: e92192.
35. Henry GP, Britt DW, Evans MI (2008) Screening advances and diagnostic choice: the problem of residual risk. Fetal Diagn Ther 23: 308-315.
36. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. (2011) DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 13: 913-920.
37. Song K, Musci TJ, Caughey AB (2013) Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 26: 1180-1185.