Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma

Journal of Obstetrics and Gynaecology Canada

Volumn 35, Issue 2, 2013, Pages 177-181

  Langlois, Sylvie ^a   Brock, Jo Ann ^a   Douglas Wilson, R ^a   Audibert, François ^a   Carroll, June ^a   Cartier, Lola ^b   Gagnon, Alain ^a   Johnson, Jo Ann ^a   MacDonald, William ^a   Murphy Kaulbeck, Lynn ^a   Okun, Nanette ^a   Pastuck, Melanie ^c   Senikas, Vyta ^a  

^a CCGC ^*  (Canada)

^b Canadian Coast Guard College   (Canada)

^c NONE   (Canada)

Author keywords

Cell free fetal DNA; Down syndrome; Non invasive prenatal diagnosis; Prenatal screening; Trisomy 13; Trisomy 18

Indexed keywords

CELL FREE FETAL DNA; DNA; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL DECISION MAKING; DISEASE ASSOCIATION; DISEASE MARKER; DOWN SYNDROME; HUMAN; MATERNAL BLOOD; NON INVASIVE MEASUREMENT; NON INVASIVE PRENATAL TESTING; OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; PATIENT COUNSELING; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; RISK ASSESSMENT; RISK FACTOR; SCREENING TEST; SEQUENCE ANALYSIS; SYSTEMATIC REVIEW; TRISOMY 13; TRISOMY 18;

EID: 84879494122     PISSN: 17012163     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1701-2163(15)31025-2     Document Type: Article

References (21)

1. Avent N.D., Chitty L.S. Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound. Prenat Diagn 2006, 26:598-603.
2. Minon J.M., Gerard C., Senterre J.M., Schaaps J.P., Foidart J.M. Routine fetal RHD genotyping with maternal plasma: a four-year experience in Belgium. Transfusion 2008, 48:373-381.
3. 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. Br Med J 2008, 336:816-818.
4. Wright C.F., Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009, 15:139-151.
5. Fan H.C., Blumenfeld Y.J., Chitkara U., Hudgins L., Quake S.R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. PNAS 2008, 105:16266-16271.
6. Chiu R.W.K., Chan K.C.A., Gao Y., Lau V.Y.M., Zheng W., Leung T.Y., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. PNAS 2008, 105:20458-20463.
7. Chiu R.W.K., Sun H., Akolekar R., Clouser C., Lee C., McKernan K., et al. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem 2010, 56:459-463.
8. Chiu R.W.K., Akolekar R., Zheng Y.W.L., Leung T.Y., Sun H., Chan K.C.A., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401.
9. Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., Ehrich M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011, 13:913-9120.
10. Ehrich M., Deciu C., Zwiefelhofer T., Tynan J.A., Cagasan L., Tim R., et al. 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(3):205e1-2011.
11. Lau T.K., Chan F., Pan X., Pooh R.K., Jiang F., Li Y., et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012, 25(8):1370-1374.
12. Sehnert A.J., Rhees B., Comstock D., de Feo E., Heilek G., Burke J., et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011, 57:1042-1049.
13. Sparks A.B., Struble E.T., Wang E.T., Song K., Oliphant A. Non-invasive 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. e1-9.
14. Ashoor G., Syngelaki A., Wagner M., Birdir C., Nicolaides K.H. 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. e1-5.
15. Bianchi D.W., Platt L.D., Goldberg J.D., Abuhamad A.Z., Sehnert A., Rava R.P. Genome-wide fetal aneuploidy detection by maternal plasma. Obstet Gynecol 2012, 119(5):890-901.
16. Norton M.E., Brar H., Weiss J., Karimi A., Laurent L.C., Caughey A.B., 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 2012, 207:e1-8.
17. Chen E.Z., Chiu R.W., Sun H., Akolekar R., Chan K.C., Leung T.Y., et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 2011, 6:e21791.
18. Palomaki G.E., Deciu C., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., 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 2012, 14(3):295-305.
19. Nicolaides K.H., 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(5):374. e1-6.
20. Benn P., Borrell A., Cuckle H., Dugoff L., Gross S., Johnson J., 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 2012, 32:1-2.
21. Woolf S.H., Battista R.N., Angerson G.M., Logan A.G. Eel W Canadian Task Force on Preventive Health Care. New grades for recommendations from the Canadian Task Force on Preventive Health Care. CMAJ 2003, 169:207-208.