Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening

Clinics in Perinatology

Volumn 41, Issue 4, 2014, Pages 957-966

  Wagner, Amy J ^a   Mitchell, Michael E ^a   Tomita Mitchell, Aoy ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Aneuploidy; Cell free DNA; Noninvasive prenatal testing; Screening

Indexed keywords

ALPHA FETOPROTEIN; CELL FREE FETAL DNA; CHORIONIC GONADOTROPIN BETA SUBUNIT; DNA; ESTRIOL; INHIBIN A; MESSENGER RNA; UNCLASSIFIED DRUG;

AMNION FLUID; ANEUPLOIDY; BLOOD SAMPLING; COUNSELING; DIAGNOSTIC ACCURACY; DISEASE MARKER; DNA SEQUENCE; DOWN SYNDROME; FIRST TRIMESTER PREGNANCY; GENE; GENE EXPRESSION; GENETIC SCREENING; GESTATIONAL AGE; HAPLOTYPE; HUMAN; MATERNAL PLASMA; MICROARRAY ANALYSIS; NEURAL TUBE DEFECT; NON INVASIVE PROCEDURE; PLAC4 GENE; PRENATAL SCREENING; RELIABILITY; REVIEW; SECOND TRIMESTER PREGNANCY; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 18; TRISOMY 21; BLOOD; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; FEMALE; PREDICTIVE VALUE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; TRISOMY;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DNA; DOWN SYNDROME; FEMALE; GENETIC TESTING; HUMANS; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 84910116657     PISSN: 00955108     EISSN: 15579840     Source Type: Journal    
DOI: 10.1016/j.clp.2014.08.013     Document Type: Review

References (61)

1. Wald N.J., Huttly W.J., Hackshaw A.K. Antenatal screening for Down's syndrome with the quadruple test. Lancet 2003, 361(9360):835-836.
2. Malone F.D., D'Alton M.E., Society for Maternal-Fetal Medicine First-trimester sonographic screening for Down syndrome. Obstet Gynecol 2003, 102(5 Pt 1):1066-1079.
3. Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. NEngl J Med 2005, 353(19):2001-2011.
4. Thompson & Thompson genetics in medicine 2007, Saunders Elsevier, Philadelphia. 7th edition. R.L. Nassbaum, R.R. McInnes, H.F. Willard (Eds.).
5. Graves J.C., Miller K.E., Sellers A.D. Maternal serum triple analyte screening in pregnancy. Am Fam Physician 2002, 65(5):915-920.
6. Lambert-Messerlian G.M., Canick J.A. Clinical application of inhibin a measurement: prenatal serum screening for Down syndrome. Semin Reprod Med 2004, 22(3):235-242.
7. ACOG Committee on Practice Bulletins ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007, 109(1):217-227.
8. Antsaklis A., Papantoniou N., Xygakis A., et al. Genetic amniocentesis in women 20-34 years old: associated risks. Prenat Diagn 2000, 20(3):247-250.
9. Evans M.I., Andriole S. Chorionic villus sampling and amniocentesis in 2008. Curr Opin Obstet Gynecol 2008, 20(2):164-168.
10. Lo Y.M., Corbetta N., Chamberlain P.F., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350(9076):485-487.
11. Illanes S., Denbow M., Kailasam C., et al. Early detection of cell-free fetal DNA in maternal plasma. Early Hum Dev 2007, 83(9):563-566.
12. Ashoor G., Poon L., Syngelaki A., et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012, 31(4):237-243.
13. Lo Y.M., Tein M.S., Lau T.K., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998, 62(4):768-775.
14. Zhong X.Y., Laivuori H., Livingston J.C., et al. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol 2001, 184(3):414-419.
15. Suzuki N., Kamataki A., Yamaki J., et al. Characterization of circulating DNA in healthy human plasma. Clin Chim Acta 2008, 387(1-2):55-58.
16. Lui Y.Y., Chik K.W., Chiu R.W., et al. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem 2002, 48(3):421-427.
17. Lo Y.M., Zhang J., Leung T.N., et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999, 64(1):218-224.
18. Hui L., Vaughan J.I., Nelson M. Effect of labor on postpartum clearance of cell-free fetal DNA from the maternal circulation. Prenat Diagn 2008, 28(4):304-308.
19. Smid M., Galbiati S., Vassallo A., et al. No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet 2003, 112(5-6):617-618.
20. Benn P., Cuckle H., Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013, 42(1):15-33.
21. Dhallan R., Guo X., Emche S., et al. Anon-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 2007, 369(9560):474-481.
22. Lo Y.M. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 2009, 116(2):152-157.
23. Sifakis S., Papantoniou N., Kappou D., et al. Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights. JPerinat Med 2012, 40(4):319-327.
24. Fan H.C., Quake S.R. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007, 79(19):7576-7579.
25. Lo Y.M., Lun F.M., Chan K.C., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 2007, 104(32):13116-13121.
26. Bianchi D.W., Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?. Clin Chem 2014, 60(1):78-87.
27. Canick J.A., Kloza E.M., Lambert-Messerlian G.M., et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012, 32(8):730-734.
28. Bianchi D.W., Platt L.D., Goldberg J.D., et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012, 119(5):890-901.
29. Norton M.E., 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 2012, 207(2):137.e1-137.e8.
30. Zimmermann B., Hill M., Gemelos G., et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012, 32(13):1233-1241.
31. Morain S., Greene M.F., Mello M.M. Anew era in noninvasive prenatal testing. NEngl J Med 2013, 369(6):499-501.
32. Dewey F.E., Grove M.E., Pan C., et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014, 311(10):1035-1045.
33. Sparks A.B., Wang E.T., Struble C.A., et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012, 32(1):3-9.
34. Ghanta S., Mitchell M.E., Ames M., et al. Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms. PLoS One 2010, 5(10):e13184.
35. Sehnert A.J., Rhees B., Comstock D., 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(7):1042-1049.
36. Chen E.Z., Chiu R.W., Sun H., et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011, 6(7):e21791.
37. Chiu R.W., Chan K.C., Gao Y., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008, 105(51):20458-20463.
38. Lo Y.M., Tsui N.B., Chiu R.W., et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007, 13(2):218-223.
39. Chiu R.W., Akolekar R., Zheng Y.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401.
40. Ehrich M., Deciu C., Zwiefelhofer T., 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):205.e1-205.e11.
41. Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011, 13(11):913-920.
42. Ashoor G., Syngelaki A., Wagner M., et al. 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(4):322.e1-322.e5.
43. Sparks A.B., Struble C.A., Wang E.T., et al. 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(4):319.e1-319.e9.
44. Verweij E.J., van den Oever J.M., de Boer M.A., et al. Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: a systematic review. Fetal Diagn Ther 2012, 31(2):81-86.
45. Lau T.K., Chan M.K., Lo P.S., et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. JMatern Fetal Neonatal Med 2012, 25(10):1856-1859.
46. Nicolaides K.H., Syngelaki A., Ashoor G., et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012, 207(5):374.e1-374.e6.
47. Dan S., Wang W., Ren J., et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 2012, 32(13):1225-1232.
48. Gil M.M., Quezada M.S., Bregant B., et al. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013, 42(1):34-40.
49. Bianchi D.W., Parker R.L., Wentworth J., et al. DNA sequencing versus standard prenatal aneuploidy screening. NEngl J Med 2014, 370(9):799-808.
50. Gil M.M., Akolekar R., Quezada M.S., et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014, 35(3):156-173.
51. Gregg A.R., Gross S.J., Best R.G., et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013, 15(5):395-398.
52. Benn P., Borell A., Chiu R., et al. Position statement from the aneuploidy screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn 2013, 33(7):622-629.
53. Devers P.L., Cronister A., Ormond K.E., et al. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. JGenet Couns 2013, 22(3):291-295.
54. American College of Obstetricians and Gynecologists Committee on Genetics Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012, 120(6):1532-1534.
55. Wapner R.J., Levy B. The impact of new genomic technologies in reproductive medicine. Discov Med 2014, 17(96):313-318.
56. Benn P.A., Chapman A.R. Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol 2010, 22(2):128-134.
57. Greely H.T. Get ready for the flood of fetal gene screening. Nature 2011, 469(7330):289-291.
58. Skotko B.G., Kishnani P.S., Capone G.T., Down Syndrome Diagnosis Study Group Prenatal diagnosis of Down syndrome: how best to deliver the news. Am J Med Genet A 2009, 149A(11):2361-2367.
59. Cleary-Goldman J., Morgan M.A., Malone F.D., et al. Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstet Gynecol 2006, 107(1):11-17.
60. Skotko B.G. Prenatally diagnosed Down syndrome: mothers who continued their pregnancies evaluate their health care providers. Am J Obstet Gynecol 2005, 192(3):670-677.
61. Skotko B.G., Capone G.T., Kishnani P.S., Down Syndrome Diagnosis Study Group Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. Pediatrics 2009, 124(4):e751-e758.