Non-invasive prenatal diagnosis for cystic fibrosis: Detection of paternal mutations, exploration of patient preferences and cost analysis

Prenatal Diagnosis

Volumn 35, Issue 10, 2015, Pages 950-958

  Hill, Melissa ^a   Twiss, Philip ^a   Verhoef, Talitha I ^b   Drury, Suzanne ^a   Mckay, Fiona ^a   Mason, Sarah ^a   Jenkins, Lucy ^a   Morris, Stephen ^b   Chitty, Lyn S ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMPLICON; ARTICLE; CONTROLLED STUDY; COST BENEFIT ANALYSIS; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MATERNAL PLASMA; NEXT GENERATION SEQUENCING; NON INVASIVE PROCEDURE; PATIENT PREFERENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK FACTOR; CLINICAL TRIAL; COST; ECONOMICS; GENETICS; HETEROZYGOTE DETECTION; HIGH THROUGHPUT SEQUENCING; MALE; MATERNAL SERUM SCREENING TEST; MUTATION; PROCEDURES; STATISTICS AND NUMERICAL DATA;

COSTS AND COST ANALYSIS; CYSTIC FIBROSIS; FEMALE; HETEROZYGOTE DETECTION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MATERNAL SERUM SCREENING TESTS; MUTATION; PATIENT PREFERENCE;

EID: 84943348860     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4585     Document Type: Article

References (33)

1. Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6:57-65.
2. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352:1992-2001.
3. UK CF Registry. Annual Data Report 2012. UK Cystic Fibrosis Trust: Bromley; 2013.
4. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
5. Henneman L, Bramsen I, Van Os TA, et al.. Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenat Diagn 2001;21:1-9.
6. Gonzalez-Gonzalez MC, Garcia-Hoyos M, Trujillo MJ, et al.. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn 2002;22:946-8.
7. Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, et al. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. J Cyst Fibros 2008;7:505-10.
8. Nasis O, Thompson S, Hong T, et al.. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis. Clin Chem 2004;50:694-701.
9. Hill M, Suri R, Nash E, et al. Preferences for prenatal tests for cystic fibrosis: a discrete choice experiment to compare the views of adult patients, carriers of cystic fibrosis and health professionals. J Clin Med 2014;3:176-90.
10. Barrett AN, McDonnell TC, Chan KC, et al. Digital PCR analysis of maternal plasma for non-invasive detection of sickle cell anemia. Clin Chem 2012;58:1026-32.
11. Bobadilla JL, Macek M Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
12. Department of Health. NHS reference costs 2012-2013. Available from https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/261154/nhs_reference:costs_2012-13_acc.pdf Accessed October 2014.
13. Curtis L. Unit Costs of Health and Social Care 2013. PSSRU Available from http://wwwpssruacuk/project-pages/unit-costs/ Accessed October 2014.
14. UK Genetic Testing Network. Supporting genetic testing in the NHS. Third biennial report of the UKGTN. 2012. http://ukgtn.nhs.uk/fileadmin/_migrated/tt_news/news_files/UKGTN_3rd_Biennial_Report_2012_01.pdf Accessed October 2014.
15. Nakamura K, Oshima T, Morimoto T, et al. Sequence-specific error profile of Illumina sequencers. Nucleic Acids Res 2011;39:e90.
16. Lun FM, Chiu RW, Allen Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664-72.
17. Lun FM, Tsui NB, Chan KC, et al. Non-invasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A 2008;105:19920-5.
18. Lo Y, Chan K, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
19. Lam KW, Jiang P, Liao GJ, et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012;58:1467-75.
20. New MI, Tong YK, Yuen T, et al. Non-invasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014;99:E1022-30.
21. Denayer L, Welkenhuysen M, Evers-Kiebooms G, et al. Risk perception after CF carrier testing and impact of the test result on reproductive decision making. Am J Med Genet 1997;69:422-8.
22. Sawyer SM, Cerritelli B, Carter LS, et al. Changing their minds with time: a comparison of hypothetical and actual reproductive behaviors in parents of children with cystic fibrosis. Pediatrics 2006;118:e649-56.
23. Dudding T, Wilcken B, Burgess B, et al. Reproductive decisions after neonatal screening identifies cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 2000;82:F124-7.
24. Scotet V, de Braekeleer M, Roussey M, et al. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 2000;356:789-94.
25. Myring J, Beckett W, Jassi R, et al. Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples - a qualitative study. J Genet Couns 2011;20:404-17.
26. Sanderson SC, O'Neill SC, Bastian LA, et al. What can interest tell us about uptake of genetic testing? Intention and behavior amongst smokers related to patients with lung cancer. Public Health Genomics 2010;13:116-24.
27. Lerman C, Croyle RT, Tercyak KP, et al. Genetic testing: psychological aspects and implications. J Consult Clin Psychol 2002;70:784-97.
28. Ropka ME, Wenzel J, Phillips EK, et al. Uptake rates for breast cancer genetic testing: a systematic review. Cancer Epidemiol Biomarkers Prev 2006;15:840-55.
29. Hill M, Taffinder S, Chitty LS, et al. Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn 2011;31:267-73.
30. Deans Z, Hill M, Chitty LS, et al. Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet 2012;21:713-8.
31. Hill M, Compton C, Lewis C, et al. Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia 2011;18:575-83.
32. Hill M, Compton C, Karunaratna M, et al. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. J Genet Couns 2014 2012;23:1012-21.
33. Lewis C, Hill M, Skirton H, et al. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective. Eur J Hum Genet 2012;20:1127-33.