Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: A reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

BMC Pregnancy and Childbirth

Volumn 14, Issue 1, 2014, Pages

  Hill, Melissa ^a,b   Wright, David ^c   Daley, Rebecca ^a,d   Lewis, Celine ^a,b   McKay, Fiona ^a   Mason, Sarah ^a   Lench, Nicholas ^a   Howarth, Abigail ^a   Boustred, Christopher ^a   Lo, Kitty ^e   Plagnol, Vincent ^e   Spencer, Kevin ^f   Fisher, Jane ^g   Kroese, Mark ^h   Morris, Stephen ^e   Chitty, Lyn S ^a,b,d  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b Hammersmith Campus Imperial College London   (United Kingdom)

^c UNIVERSITY OF PLYMOUTH   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f HAVERING AND REDBRIDGE UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^g Antenatal Results and Choices   (United Kingdom)

^h PHG FOUNDATION   (United Kingdom)

Author keywords

Aneuploidy; Cell free fetal DNA; Non invasive prenatal testing; Prenatal diagnosis

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CLINICAL PROTOCOL; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DOWN SYNDROME; DOWN SYNDROME SCREENING; EVALUATION STUDY; FEMALE; HEALTH CARE PLANNING; HEALTH EDUCATION; HEALTH PRACTITIONER; HUMAN; MAJOR CLINICAL STUDY; MULTICENTER STUDY; NATIONAL HEALTH SERVICE; NON INVASIVE MEASUREMENT; NON INVASIVE PRENATAL TESTING; OBSERVATIONAL STUDY; PREGNANCY OUTCOME; PREGNANT WOMAN; PRENATAL SCREENING; PROGRAM ACCEPTABILITY; STUDY; TRISOMY 21; UNITED KINGDOM; BLOOD; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; CLINICAL TRIAL; ECONOMICS; FEE; GENETIC SCREENING; GENETICS; METHODOLOGY; PATIENT ATTITUDE; PATIENT EDUCATION; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; TRISOMY;

BIOLOGICAL MARKER; DNA;

BIOMARKERS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DNA; DOWN SYNDROME; ENGLAND; FEES AND CHARGES; FEMALE; GENETIC TESTING; HUMANS; PATIENT ACCEPTANCE OF HEALTH CARE; PATIENT EDUCATION AS TOPIC; PREGNANCY; PRENATAL DIAGNOSIS; RESEARCH DESIGN; SCOTLAND; STATE MEDICINE; TRISOMY;

EID: 84904273806     PISSN: None     EISSN: 14712393     Source Type: Journal    
DOI: 10.1186/1471-2393-14-229     Document Type: Article

References (53)

1. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010, 27:1-7.
2. 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.
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 U S A 2008, 105:16266-16271.
4. Lo YM, Chiu RW, Lo YMD, Chiu RWK. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem 2008, 54:461-466.
5. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401.
6. 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 2012, 57:1042-1049.
7. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. 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):e201-211.
8. Palomaki GE, Kloza EM, Lambert-Messerlian GMH 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. Genet Med 2011, 13:913-920.
9. 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(322):e321-325.
10. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012, 119:890-901.
11. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. 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.
12. 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):e311-319.
13. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. 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 2012, 207(137):e131-138.
14. Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 2013, 41:21-25.
15. Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013, 33:569-574.
16. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013, 33:409-415.
17. Benn P, Borrell A, Cuckle H, Dugoff L, Gross S, Johnson JA, Maymon R, Odibo A, Schielen P, Spencer K, Wright D, Yaron Y. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012, 32:1-2.
18. American College of Obstetricians and Gynecologists Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstet Gynecol 2012, 120:1532-1534. American College of Obstetricians and Gynecologists.
19. Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013, 15:395-398.
20. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Non-invasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013, 92:167-176.
21. Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo PS, Wang W, Zhang HY, Chen F, Choy KW. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013, 33:602-608.
22. Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, Lau ET, Tang MH, Leung TY, Lo YM, Chiu RW. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 2013, 8:e60968.
23. RAPID Website [http://www.rapid.nhs.uk].
24. Chitty LS, Hill M, White H, Wright D, Morris S. Non-invasive prenatal testing for aneuploidy-ready for prime time?. Am J Obstet Gynecol 2012, 206:269-275.
25. Deans Z, Newson AJ. Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics 2012, 38:614-618.
26. Hill M, Fisher J, Chitty LS, Morris S. Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med 2012, 14:905-913.
27. Lewis C, Hill M, Silcock C, Daley R, Chitty L. Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake. BJOG 2014, 121:582-594.
28. Sayres LC, Allyse M, Norton ME, Cho MK. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 2011, 31:1070-1076.
29. Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake. Prenat Diagn 2011, 31:1292-1299.
30. Sayres LC, Allyse M, Goodspeed TA, Cho MK. Demographic and experiential correlates of public attitudes towards cell-free fetal DNA screening. J Genet Couns 2014, Apr 14 [Epub ahead of print].
31. Allyse M, Sayres LC, Goodspeed TA, Cho MK. Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. J Perinatol 2014, 34:429-34.
32. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013, 33:542-546.
33. Morris S, Karlsen S, Chung N, Hill M, Chitty LS. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA. Plos One 2014, 9:e93559.
34. Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment. Prenat Diagn 2011, 31:3-6.
35. Myatt L, Clifton R, Roberts J, Spong C, Wapner R, Thorp J, Mercer B, Peaceman A, Ramin S, Carpenter M, Sciscione A, Tolosa J, Saade G, Sorokin Y, Anderson G. Can changes in angiogenic biomarkers between the first and second trimesters of pregnancy predict development of pre-eclampsia in a low-risk nulliparous patient population?. BJOG 2013, 120:1183-91.
36. Donalson K, Turner S, Morrison L, Liitti P, Nilsson C, Cuckle H. Maternal serum placental growth factor and alpha-fetoprotein testing in first trimester screening for Down syndrome. Prenat Diagn 2013, 33:457-461.
37. Kooij L, Tymstra T, Berg P, Kooij L, Tymstra T, Berg P. The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. Prenat Diagn 2009, 29:164-168.
38. de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM. Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 2010, 18:272-277.
39. Deans Z, Newson AJ. Should non-invasiveness change informed consent procedures for prenatal diagnosis?. Health Care Anal 2011, 19:122-132.
40. van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ Couns 2010, 78:24-28.
41. Silcock C, Liao L-M, Hill M, Chitty LS. Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?. Health Expect 2014, [Epud ahead of print].
42. Lo KK, Boustred C, Chitty LS, Plagnol V. RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics 2014, doi:10.1093/bioinformatics/btu419.
43. Illumina [http://www.verifitest.com/].
44. Lewis C, Silcock C, Chitty LS. Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake. Public Health Genomics 2013, 16:223-232.
45. Marteau TM, Dormandy E, Michie S. A measure of informed choice. Health Expect 2001, 4:99-108.
46. van den Berg M, Timmermans DR, ten Kate LP, van Vugt JM, van der Wal G. Informed decision making in the context of prenatal screening. Patient Educ Couns 2006, 63:110-117.
47. O'Connor A. User Manual - Decisional Conflict Scale (16 item statement format) [document on the Internet] Ottawa: Ottawa Hospital Research Institute, Available from http://decisionaid.ohri.ca/docs/develop/User_Manuals/UM_Decisional_Conflict.pdf 1993 (updated 2010): Accessed January 2014.
48. O'Connor AM. Validation of a decisional conflict scale. Med Decis Making 1995, 15:25-30.
49. Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psychol 1992, 31:301-306.
50. O'Connor A. User Manual - Decisional Regret Scale [document on the Internet] Ottawa: Ottawa Hospital Research Institute, Available from https://decisionaid.ohri.ca/docs/develop/User_Manuals/UM_Regret_Scale.pdf. 1996 (updated 2003): Accessed January 2014.
51. Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol 2006, 3:77-101.
52. Lewis C, Hill M, Skirton H, Chitty LS. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective. Eur J Hum Genet 2012, 20:1127-1133.
53. Hill M, Karunaratna M, Lewis C, Forya F, Chitty L. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet A 2013, 161A:1612-1618.