Cell-free fetal DNA: Emerging applications and future obstacles

Expert Review of Obstetrics and Gynecology

Volumn 7, Issue 6, 2012, Pages 513-515

  Oxenford, Kerry ^a   Hill, Melissa ^a,b   Chitty, Lyn ^a  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

cell free fetal DNA; noninvasive prenatal testing; prenatal testing

Indexed keywords

DNA;

ACHONDROPLASIA; ANEUPLOIDY; AUTOSOMAL RECESSIVE INHERITANCE; CELL FREE SYSTEM; CLINICAL DECISION MAKING; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DOWN SYNDROME; EDITORIAL; FALSE POSITIVE RESULT; FETUS RISK; HEMOPHILIA; HIGH RISK PREGNANCY; HUMAN; INVASIVE PROCEDURE; PATIENT COUNSELING; PATIENT EDUCATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; RISK ASSESSMENT; SEQUENCE ANALYSIS; SEX DETERMINATION; SICKLE CELL ANEMIA; STRATEGIC PLANNING; TRISOMY 18; VALIDATION PROCESS; X CHROMOSOME LINKAGE;

EID: 84870461272     PISSN: 17474108     EISSN: 17474116     Source Type: Journal    
DOI: 10.1586/eog.12.66     Document Type: Editorial

References (20)

1. Hill M, Finning K, Martin P et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin. Genet. 80(1), 68-75 (2011).
2. Daniels G, Finning K, Martin P, Massey E. Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat. Diagn. 29(2), 101-107 (2009).
3. Hill M, Lewis C, Jenkins L, Allen S, Elles RG, Chitty LS. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin. Biol. Ther. 12(Suppl. 1), S119-S126 (2012).
4. Chitty LS, Griffin DR, Meaney C et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet. Gynecol. 37(3), 283-289 (2011).
5. Finning K, Martin P, Summers J, Massey E, Poole G, Daniels G. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ 336(7648), 816-818 (2008).
6. Tsui NB, Kadir RA, Chan KC et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117(13), 3684-3691 (2011).
7. Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin. Chem. 58(6), 1026-1032 (2012).
8. Lo YM, Chan KC, Sun H et al. Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus. Sci. Transl. Med. 2(61), 61ra91 (2010).
9. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; Maternal Blood is Source to Accurately Diagnose Fetal Aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119(5), 890-901 (2012).
10. Palomaki GE, Kloza EM, Lambert-Messerlian GMH, Haddow JE et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation. Genet. Med. 13(11), 913-920 (2011).
11. Benn P, Borrell A, Cuckle H et al. 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. 32(1), 1-2 (2012).
12. 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. 14(3), 296-305 (2012).
13. Norton ME, Brar H, Weiss J et al. 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(2), 137.e1-137.e8 (2012).
14. Sayres LC, Allyse M, Cho MK. Integrating stakeholder perspectives into the translation of cell-free fetal DNA testing for aneuploidy. Genome Med. 4(6), 49 (2012).
15. Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat. Diagn. 32(8), 735-741 (2012).
16. Chitty LS, Hill M, White H, Wright D, Morris S. Non-invasive prenatal testing for aneuploidy-ready for prime time? Am. J. Obstet. Gynecol. 206(4), 269-275 (2012).
17. 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. 31(11), 1070-1076 (2011).
18. Kelly SE, Farrimond HR. Non-invasive prenatal genetic testing: a study of public attitudes. Public Health Genomics 15(2), 73-81 (2012).
19. van den Heuvel A, Chitty L, Dormandy E et al. Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia. BJOG 116(7), 880-885 (2009).
20. Fisher J. Supporting parents after disclosure of abnormal first trimester screening results. Curr. Opin. Obstet. Gynecol. 24(2), 109-113 (2012).