Current controversies in prenatal diagnosis 1: Should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?

Prenatal Diagnosis

Volumn 34, Issue 1, 2014, Pages 6-11

  Bianchi, Diana W ^a,d   Oepkes, Dick ^b,d   Ghidini, Alessandro ^c,d  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Department of Obstetrics and Gynecology   (United States)

^d 17th International Conference on Prenatal Diagnosis and Therapy ^*  (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; DIAGNOSTIC ACCURACY; DNA SCREENING; DOWN SYNDROME; FALSE POSITIVE RESULT; FETAL WELL BEING; FETUS DEATH; FETUS MALFORMATION; FETUS WASTAGE; GESTATIONAL AGE; HIGH RISK POPULATION; HUMAN; LABORATORY DIAGNOSIS; NON INVASIVE PROCEDURE; NUCHAL TRANSLUCENCY MEASUREMENT; OBSTETRICIAN; PREDICTIVE VALUE; PREGNANCY OUTCOME; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; SCREENING TEST; SPONTANEOUS ABORTION; TRISOMY 21; UNITED STATES;

ADULT; ANEUPLOIDY; ANXIETY; DNA; DOWN SYNDROME; FALSE NEGATIVE REACTIONS; FEMALE; GENETIC TESTING; HUMANS; MASS SCREENING; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84891558177     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4229     Document Type: Article

References (33)

1. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
2. Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel sequencing DNA sequencing of cell-free DNA from maternal blood. Clin Chem 2011;57:1042-49.
3. 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;204:205e1-11.
4. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.
5. 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 2012;14:295-305.
6. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma sequencing. Obstet Gynecol 2012;119:890-901.
7. Sparks AB, Struble ET, Wang ET, et al. 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.
8. 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 2012;e1-8.
9. Wei W Ph.D., Director, BGI Health, Personal Communication, May 29, 2013.
10. 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 2012;32:1-2.
11. Benn P, Borell A, Chiu R, et al. Position statement from the Aneuploidy Screening Committee on behalf of the International Society for Prenatal Diagnosis. Prenat Diagn 2013;33:622-9.
12. Devers PL, Cronister A, Ormond KE, et al. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Counsel 2013;22:291-5.
13. The American College of Obstetricians and Gynecologists Committee of Genetics and the Society for Maternal Fetal Medicine Publications Committee. Committee Opinion Number 545. December 2012.
14. Langlois S, Brock J, Wilson RD, et al. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. JOGC No. 287, February 2013, pages 177-81.
15. Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013. doi:10.1038/gim.2013.29
16. www.jsog.or.jp/news/pdf/guidelineforNIDT_20130309.pdf
17. Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma. Prenat Diagn 2013;569-74.
18. Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013;33:580-3.
19. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
20. Brar H, Wang E, Struble C, Musci TJ, Norton ME. The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy. J Matern Fetal Neonatal Med 2013;26:143-5.
21. Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.e 1-6.
22. Nicolaides KH, Wright D, Poon LC, et al. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013;42:41-50.
23. 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;14:905-13.
24. Boon EMJ, Faas BHW. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn 2013;33:563-8.
25. Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;1-8.
26. Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013;1-5.
27. Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis.
28. Ohno M, Caughey A. The role of noninvasive prenatal testing as a diagnostic versus a screening tool - a cost effectiveness analysis. Prenat Diagn 2013;1-6.
29. Gil MM, Quezada MS, Bregant B, et al. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42:34-40.
30. Verweij EJ, Oepkes D, de Boer MA. Changing attitudes towards termination of pregnancy for trisomy 21 with non-invasive prenatal trisomy testing: a population-based study in Dutch pregnant women. Prenat Diagn 2013;33:397-99.
31. Agarwal A, Sayres LC, Cho MK, et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 2013;33:521-31.
32. Norton ME, Rose NC, Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol 2013;121:847-50.
33. Snyder MW, Simmons LE, Kitzman JO, et al. Noninvasive fetal genome sequencing: a primer. Prenat Diagn 2013;33:547-54.