Cell-free DNA testing: Inadequate implementation of an outstanding technique

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 5, 2015, Pages 508-511

  Borrell, A ^a   Stergiotou, I ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANEUPLOIDY; CELL FREE SYSTEM; FEMALE; FINANCIAL MANAGEMENT; FIRST TRIMESTER PREGNANCY; GENETIC SCREENING; GENETICS; HUMAN; NEWBORN; ORGANIZATION AND MANAGEMENT; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; TRENDS;

ANEUPLOIDY; CELL-FREE SYSTEM; DNA; FEMALE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MARKETING OF HEALTH SERVICES; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 84928478811     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14795     Document Type: Note

References (35)

1. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS,. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-487.
2. Lo YM, Chiu RW,. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem 2008; 54: 461-466.
3. 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: 16266-16271.
4. 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.
5. 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.
6. Bianchi DW, Rava RP, Sehnert AJ,. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 371: 578.
7. Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P,. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014; 211: 527.e1-17.
8. Buchanan A, Sachs A, Toler T, Tsipis J,. NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenat Diagn 2014; 34: 850-857.
9. 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.
10. Devaney SA, Palomaki GE, Scott JA, Bianchi DW,. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306: 627-636.
11. Merriam-Webster Medical Dictionary Online. http://www.merriam-webster.com/dictionary/noninvasive [Accessed 5 January 2015 ].
12. Palomaki GE, Kloza EM, Lambert-Messerlian GM, van den Boom D, Ehrich M, Deciu C, Bombard AT, Haddow JE,. Circulating cell free DNA testing: are some test failures informative? Prenat Diagn 2015; 35: 289-293.
13. Vora NL, O'Brien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol 2014; 123: 1097-1099.
14. Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P,. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015; 212: 332.e1-9.
15. Quezada MS, Del Mar Gil M, Francisco C, Oròsz G, Nicolaides KH,. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol 2015; 45: 36-41.
16. Takoudes T, Hamar B,. Performance of non-invasive prenatal testing when fetal cell-free DNA is absent. Ultrasound Obstet Gynecol 2015; 45: 112.
17. Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, Hall MP, Dodd M, Lacroute P, Stosic M, Chopra N, Hunkapiller N, Prosen DE, McAdoo S, Demko Z, Siddiqui A, Hill M, Rabinowitz M,. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014; 124: 210-218.
18. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B,. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1: 1287-1293.
19. Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D'Alton ME,. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006; 108: 1067-1072.
20. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP,. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience. Obstet Gynecol 2008; 111: 589-595.
21. Odibo AO, Dicke JM, Gray DL, Oberle B, Stamilio DM, Macones GA, Crane JP,. Evaluating the rate and risk factors for fetal loss after chorionic villus sampling. Obstet Gynecol 2008; 112: 813-819.
22. Akolekar R, Bower S, Flack N, Bilardo CM, Nicolaides KH,. Prediction of miscarriage and stillbirth at 11-13 weeks and the contribution of chorionic villus sampling. Prenat Diagn 2011; 31: 38-45.
23. Dungan J, Ginsberg N, Shulman L,. Reassessing the safety of chorionic villus sampling. Prenat Diagn 2014; 34 (Suppl 1): 26.
24. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F,. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 16-26.
25. Okun N, Teitelbaum M, Huang T, Dewa CS, Hoch JS,. The price of performance: a cost and performance analysis of the implementation of cell-free fetal DNA testing for Down syndrome in Ontario, Canada. Prenat Diagn 2014; 34: 350-356.
26. Benn P, Cuckle H, Pergament E,. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013; 42: 15-33.
27. Lewis C, Choudhury M, Chitty LS,. 'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing. Prenat Diagn 2014. DOI: 10.1002/pd.4488. [Epub ahead of print]
28. Benn P, Borrell A, Chiu R, Cuckle H, Dugoff L, Faas B, Gross S, Johnson J, Maymon R, Norton M, Odibo A, Schielen P, Spencer K, Huang T, Wright D, Yaron Y,. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2013; 33: 622-629.
29. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012; 120: 1532-1534.
30. Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Yeo G, Raine-Fenning N,; ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet Gynecol 2014; 44: 122-123.
31. Cuckle H, Benn P, Pergament E,. Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis. Prenat Diagn 2013; 33: 636-642.
32. Beulen L, Grutters JP, Faas BH, Feenstra I, van Vugt JM, Bekker MN,. The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis. Eur J Obstet Gynecol Reprod Biol 2014; 182C: 53-61.
33. Lo KK, Boustred C, Chitty LS, Plagnol V,. RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics 2014; 30: 2965-2967.
34. Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, Kallikas I, Velissariou V, Sismani C, Patsalis PC,. Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature. Biomed Res Int 2013; 2013: 346762.
35. Rodríguez-Revenga L, Vallespín E, Madrigal I, Palomares M, Mur A, García-Miñaur S, Santos F, Mori MÁ, Lapunzina P, Mila M, Nevado J,. A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. Gene 2013; 521: 82-86.